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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 Thrombosis
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Accession:DOID:9003871 term browser browse the term
Definition:The formation or presence of a blood clot (THROMBUS) within a vein.
Synonyms:exact_synonym: DVT;   Deep Vein Thrombosis;   Deep Venous Thrombosis;   Phlebothromboses;   deep vein thromboses;   deep venous thromboses;   phlebothrombosis;   venous thromboses
 related_synonym: venous thrombosis, susceptibility to
 primary_id: MESH:D020246
 xref: EFO:0003907;   NCI:C49343

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show annotations for term's descendants           Sort by:
Venous Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 treatment ISO RGD PMID:21095090 RGD:10449099 NCBI chrNW_004936669:3,449,259...3,478,471
Ensembl chrNW_004936669:3,456,494...3,478,512 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22119245 RGD:6903200 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:3,884,450...3,934,559
Ensembl chrNW_004936619:3,884,783...3,928,769 		JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO DNA:polymorphism: :324G>A
ClinVar Annotator: match by term: Deep venous thrombosis		 RGD
ClinVar		 PMID:18064318 PMID:25741868 PMID:31064749 RGD:2289709 NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864 		JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:4,203,792...4,209,417 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:3,977,307...4,014,490
Ensembl chrNW_004936619:3,977,144...4,014,273 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 PMID:17547733 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343 		JBrowse link
G F12 coagulation factor XII susceptibility ISO associated with Pregnancy Complications; DNA:polymorphism::46C>T(human) RGD PMID:15116249 PMID:20141580 RGD:11041808 RGD:11041858 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G F13a1 coagulation factor XIII A chain susceptibility ISO DNA:polymorphism:cds:p.V34L(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9920839 PMID:10365735 PMID:12358922 RGD:10450745 RGD:1581032 NCBI chrNW_004936534:6,199,066...6,360,374
Ensembl chrNW_004936534:6,199,066...6,361,476 		JBrowse link
G F13b coagulation factor XIII B chain ISO ClinVar Annotator: match by term: Venous thrombosis, susceptibility to ClinVar PMID:12456499 PMID:16241947 PMID:25741868 NCBI chrNW_004936567:6,712,666...6,735,539 JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9409269 PMID:9869612 PMID:12296757 PMID:19920886 PMID:23535565 RGD:10449430 RGD:1580342 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414 NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:19486170 PMID:25741868 PMID:31064749 NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844 		JBrowse link
G F7 coagulation factor VII treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:14967414 PMID:16378835 RGD:11041650 NCBI chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339 		JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:15634269 PMID:16875063 RGD:1582359 NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Deep vein thrombosis ClinVar PMID:8473507 PMID:8636415 PMID:25741868 PMID:34355501 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:12573244 PMID:15795540 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chrNW_004936576:1,306,076...1,313,485
Ensembl chrNW_004936576:1,306,109...1,313,386 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:3,691,327...3,760,906
Ensembl chrNW_004936619:3,691,074...3,761,425 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:3,627,649...3,629,129
Ensembl chrNW_004936619:3,627,999...3,628,859 		JBrowse link
G Gp6 glycoprotein VI platelet treatment ISO protein:increased expression:plasma (human) RGD PMID:16254207 PMID:25253166 RGD:401794452 RGD:401824681 NCBI chrNW_004936886:295,950...310,614
Ensembl chrNW_004936886:296,025...310,614 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:23426106 RGD:11352755 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987 		JBrowse link
G Habp2 hyaluronan binding protein 2 ISO DNA:SNP: :p.G534E (rs7080536) (human) RGD PMID:22421107 RGD:11353820 NCBI chrNW_004936486:3,987,746...4,004,632
Ensembl chrNW_004936486:3,974,035...4,004,632 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:36162953 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G Il10 interleukin 10 susceptibility ISO RGD PMID:16807647 RGD:1598472 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:22318348 RGD:8655957 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:17651586 RGD:2311092 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:17651586 RGD:2311092 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:haplotype::rs2232354(human) RGD PMID:17413037 RGD:11528540 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Itga2 integrin subunit alpha 2 no_association ISO RGD PMID:16380674 RGD:1582295 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		JBrowse link
G Itgb3 integrin subunit beta 3 susceptibility ISO associated with Behcet Syndrome; DNA:polymorphism: : RGD PMID:21813062 RGD:8693342 NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035 		JBrowse link
G Jak2 Janus kinase 2 no_association ISO CTD Direct Evidence: marker/mechanism
DNA:mutation: :p.V617F (human)
DNA:SNP: :rs10974944 (human)
DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)		 CTD
RGD		 PMID:17059429 PMID:20434300 PMID:23845539 RGD:10449376 RGD:10449391 NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26600200 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002 		JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:2,854,915...2,899,386
Ensembl chrNW_004936619:2,854,803...2,899,460 		JBrowse link
G LOC101958459 plasma serine protease inhibitor susceptibility ISO protein:increased expression:plasma (human) RGD PMID:12139754 RGD:1580299 NCBI chrNW_004936846:141,334...150,381
Ensembl chrNW_004936846:146,116...150,438 		JBrowse link
G LOC101967202 coagulation factor XI susceptibility ISO protein:increased activity:blood: RGD PMID:10706899 RGD:11041768 NCBI chrNW_004936554:3,205,539...3,223,228
Ensembl chrNW_004936554:3,205,539...3,219,311 		JBrowse link
G LOC101976500 haptoglobin ISO associated with Pulmonary Embolism;protein:increased expression:serum RGD PMID:17203959 RGD:1626365 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:2,687,004...2,780,898
Ensembl chrNW_004936619:2,687,011...2,759,294 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16171603 RGD:1582570 NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16171603 PMID:20515599 RGD:1582570 RGD:2325775 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA:increased expression:femoral vein (rat) RGD PMID:16920980 PMID:20515599 RGD:1582648 RGD:2325775 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility		 ISO DNA:transition:cds:g.677C>T (human)
CTD Direct Evidence: marker/mechanism
associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)
DNA:transition: :677C>T (human)		 RGD
CTD		 PMID:10792297 PMID:10929044 PMID:12442281 PMID:19123085 PMID:22707612 RGD:10449394 RGD:1580590 RGD:6893602 RGD:6893655 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with orthopedic surgery;DNA:SNP::rs1799983(human) RGD PMID:23922896 RGD:11533639 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.L125V (human) RGD PMID:25846278 RGD:11541089 NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093 		JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis class M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16767100 NCBI chrNW_004936740:595,932...597,964
Ensembl chrNW_004936740:596,072...597,343 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913 NCBI chrNW_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 PMID:16849641 More... NCBI chrNW_004936489:11,775,243...11,808,482
Ensembl chrNW_004936489:11,775,243...11,805,651 		JBrowse link
G Ppbp pro-platelet basic protein ameliorates ISO associated with Wounds and Injuries;mRNA:increased expression:blood RGD PMID:23550035 PMID:32347511 RGD:329901817 RGD:401794958 NCBI chrNW_004936598:1,719,501...1,720,890
Ensembl chrNW_004936598:1,719,480...1,720,911 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:1868249 PMID:7482420 PMID:8128429 PMID:8499565 PMID:8845458 More... 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 ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:7803790 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 More... NCBI chrNW_004936666:18,303...110,357
Ensembl chrNW_004936666:19,387...110,014 		JBrowse link
G Rtl10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:3,755,537...3,760,909 JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:4,130,757...4,155,885
Ensembl chrNW_004936619:4,130,748...4,155,894 		JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:2,900,536...2,915,306
Ensembl chrNW_004936619:2,903,824...2,914,518 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Venous thrombosis, susceptibility to ClinVar PMID:15461625 NCBI chrNW_004936733:2,121,875...2,129,988 JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:1483705 PMID:1555650 PMID:1977621 PMID:2336381 PMID:3472589 More... 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 ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 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 ISO mRNA:increased expression:femoral vein (rat)
DNA:deletion:promoter:g.-676_-674delG (human)		 RGD PMID:9535178 PMID:14653439 PMID:26535698 RGD:11060966 RGD:1580132 RGD:8547875 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:3,934,791...3,973,695
Ensembl chrNW_004936619:3,934,314...3,975,240 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525 		JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:7848332 RGD:11059887 NCBI chrNW_004936588:2,040,712...2,044,635
Ensembl chrNW_004936588:2,040,630...2,045,110 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: therapeutic
protein:increased expression:plasma:		 RGD
CTD		 PMID:12560220 PMID:17973652 PMID:18480984 PMID:18600090 RGD:11060130 RGD:11060137 RGD:11060257 NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:4,015,072...4,020,163
Ensembl chrNW_004936619:4,014,508...4,020,569 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:3,789,940...3,847,286
Ensembl chrNW_004936619:3,791,418...3,847,626 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:thrombus, vein RGD PMID:23199547 RGD:7207783 NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048 		JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:4,032,665...4,048,079
Ensembl chrNW_004936619:4,032,659...4,048,155 		JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936619:2,939,104...2,947,461 JBrowse link
Budd-Chiari syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO protein: decreased expression: plasma (human) RGD PMID:21145806 RGD:25671435 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G F5 coagulation factor V severity
susceptibility
disease_progression		 ISO associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
ClinVar Annotator: match by term: Budd-Chiari syndrome
Factor V Leiden;DNA:missense mutation:cds:G1691A (human)
DNA:missense mutation:cds:R506Q (human)		 RGD
OMIM
ClinVar		 PMID:11950065 PMID:16246256 PMID:16825912 PMID:19486170 PMID:24033266 More... RGD:11537993 RGD:14700660 RGD:14700661 NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844 		JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004936503:67,933...78,496 JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
DNA:transition: :677C>T (human)		 RGD PMID:12221667 PMID:26238013 RGD:10449395 RGD:11537993 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
central retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:20688738 RGD:11100028 NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
cerebral venous thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx3 glutathione peroxidase 3 no_association ISO DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) RGD PMID:18096833 PMID:19095977 RGD:401827161 RGD:401827164 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Cerebral venous thrombosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638 		JBrowse link
portal vein thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin severity ISO associated with liver cirrhosis;protein:increased expression:plasma (human) RGD PMID:28465646 RGD:14985237 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G Igf1r insulin like growth factor 1 receptor susceptibility ISO associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) RGD PMID:24758241 RGD:14985227 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:25987440 PMID:27221722 RGD:14696705 RGD:14696749 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO RGD PMID:21487926 RGD:5490120 NCBI chrNW_004936478:7,146,997...7,160,369
Ensembl chrNW_004936478:7,147,027...7,160,401 		JBrowse link
G Aqp4 aquaporin 4 ISO mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:SNP: :20210G>A (human) RGD PMID:14994919 PMID:22800650 RGD:7387258 RGD:7394774 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 onset
no_association		 ISO DNA:missense mutation:cds:1691G>A (human)
DNA:SNP:cds:1691G>A (human)
CTD Direct Evidence: marker/mechanism
associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)		 RGD
CTD		 PMID:10511031 PMID:10634550 PMID:12022286 PMID:16113792 RGD:7394767 RGD:7394773 RGD:7394778 NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844 		JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:21487926 RGD:5490120 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:snp, haplotype:cds:g.807C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12928694 RGD:8686430 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:21487926 RGD:5490120 NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility		 ISO DNA:missense mutation:cds:677C>T (human)
DNA:SNP: :1298A>C(human)
DNA:SNP: :677C>T(human)		 RGD PMID:10485556 PMID:23289804 PMID:24250697 RGD:10449405 RGD:10449421 RGD:7387256 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Nrp1 neuropilin 1 ISO MouseDO NCBI chrNW_004936574:1,694,433...1,834,720
Ensembl chrNW_004936574:1,694,336...1,834,720 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutation:cds:p.L55M (human)
protein:decreased activity:serum (human)		 RGD PMID:18084236 PMID:23441121 RGD:8547547 RGD:8547555 NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human)
protein:increased activity:plasma (human)		 RGD PMID:15213845 PMID:16244763 RGD:8547742 RGD:8547805 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16680105 PMID:21487926 RGD:5490120 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:21487926 RGD:5490120 NCBI chrNW_004936599:4,963,161...4,966,258
Ensembl chrNW_004936599:4,962,222...4,966,264 		JBrowse link
venous tributary occlusion of retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 no_association ISO DNA:snp:cds:g.807C>T (human) RGD PMID:16157382 RGD:1582301 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 0
      cardiovascular system disease 4139
        vascular disease 2903
          thrombosis 135
            Venous Thrombosis 83
              Budd-Chiari syndrome + 5
              Lower Extremity Deep Vein Thrombosis 0
              Upper Extremity Deep Vein Thrombosis 0
              cerebral venous thrombosis 2
              portal vein thrombosis 4
              post-thrombotic syndrome 0
              retinal vein occlusion + 18
              thrombophlebitis + 0
Path 2
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 0
      cardiovascular system disease 4139
        vascular disease 2903
          Embolism and Thrombosis 154
            thrombosis 135
              Venous Thrombosis 83
                Budd-Chiari syndrome + 5
                Lower Extremity Deep Vein Thrombosis 0
                Upper Extremity Deep Vein Thrombosis 0
                cerebral venous thrombosis 2
                portal vein thrombosis 4
                post-thrombotic syndrome 0
                retinal vein occlusion + 18
                thrombophlebitis + 0
paths to the root