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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


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 IDA RGD PMID:21095090 RGD:10449099 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22119245 RGD:6903200 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:vein RGD PMID:18167211 RGD:2307053 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO DNA:polymorphism: :324G>A
ClinVar Annotator: match by term: Deep venous thrombosis		 ClinVar
RGD		 PMID:25741868 PMID:31064749 PMID:18064318 RGD:2289709 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 IEP RGD PMID:7749835 RGD:5135275 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 PMID:17547733 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G F11 coagulation factor XI susceptibility ISO protein:increased activity:blood: RGD PMID:10706899 RGD:11041768 NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G F12 coagulation factor XII susceptibility ISO DNA:polymorphism::46C>T(human)
associated with Pregnancy Complications; DNA:polymorphism::46C>T(human)		 RGD PMID:15116249 PMID:20141580 RGD:11041808, RGD:11041858 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G F13a1 coagulation factor XIII A1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.V34L(human)		 CTD
RGD		 PMID:10365735 PMID:9920839 PMID:12358922 RGD:1581032, RGD:10450745 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G F13b coagulation factor XIII B chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thrombosis, susceptibility to		 CTD
ClinVar		 PMID:12456499 PMID:16241947 PMID:25741868 NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381 		JBrowse link
G F2 coagulation factor II, thrombin ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9869612 PMID:12296757 PMID:19920886 PMID:9409269 PMID:23535565 RGD:1580342, RGD:10449430 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (human)
ClinVar Annotator: match by term: Deep venous thrombosis
CTD Direct Evidence: marker/mechanism
DNA:mutation: :1691G>A (human)
associated with Behcet Syndrome;DNA:SNP: :1691G>A (human)
associated with lupus erythematosus, systemic; DNA:polymorphism:cds:rs6025(human)		 ClinVar
CTD
RGD		 PMID:12296757 PMID:12827938 PMID:12865888 PMID:15033664 PMID:16875063 More... RGD:6893601, RGD:7394779, RGD:7394762, RGD:6893602 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G F7 coagulation factor VII treatment IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14967414 PMID:16378835 RGD:11041650 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16875063 PMID:15634269 RGD:1582359 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Fga fibrinogen alpha chain ISO
IEP		 DNA:SNP: :rs6050 (human)
protein:increased expression:peripheral blood (rat)
ClinVar Annotator: match by term: Deep vein thrombosis		 ClinVar
RGD		 PMID:8473507 PMID:8636415 PMID:25741868 PMID:34355501 PMID:22353194 More... RGD:5688756, RGD:7207783 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		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 chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		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 chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gp6 glycoprotein VI treatment ISO protein:increased expression:plasma (human) RGD PMID:25253166 PMID:16254207 RGD:401794452, RGD:401824681 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:23426106 RGD:11352755 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Habp2 hyaluronan binding protein 2 ISO DNA:SNP: :p.G534E (rs7080536) (human) RGD PMID:22421107 RGD:11353820 NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:36162953 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hp haptoglobin ISO associated with Pulmonary Embolism;protein:increased expression:serum RGD PMID:17203959 RGD:1626365 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il10 interleukin 10 susceptibility ISO RGD PMID:16807647 RGD:1598472 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 IEP protein:increased expression:serum RGD PMID:22318348 RGD:8655957 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:17651586 RGD:2311092 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta IEP RGD PMID:17651586 RGD:2311092 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:haplotype::rs2232354(human) RGD PMID:17413037 RGD:11528540 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Itga2 integrin subunit alpha 2 no_association ISO RGD PMID:16380674 RGD:1582295 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Itgb3 integrin subunit beta 3 susceptibility ISO associated with Behcet Syndrome; DNA:polymorphism: : RGD PMID:21813062 RGD:8693342 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Jak2 Janus kinase 2 no_association ISO DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)
DNA:SNP: :rs10974944 (human)
DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20434300 PMID:23845539 PMID:23845539 PMID:17059429 RGD:10449376, RGD:10449376, RGD:10449391 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26600200 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770 		JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16171603 RGD:1582570 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP
IDA		 RGD PMID:20515599 PMID:16171603 RGD:2325775, RGD:1582570 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP RGD PMID:20515599 RGD:2325775 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 HEP
ISO		 mRNA:increased expression:femoral vein (rat) RGD PMID:20515599 PMID:16920980 RGD:2325775, RGD:1582648 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility		 ISO DNA:transition:cds:g.677C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:transition: :677C>T (human)
associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)		 CTD
RGD		 PMID:19123085 PMID:10929044 PMID:12442281 PMID:10792297 PMID:22707612 RGD:1580590, RGD:10449394, RGD:6893655, RGD:6893602 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with orthopedic surgery;DNA:SNP::rs1799983(human) RGD PMID:23922896 RGD:11533639 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		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 chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pf4 platelet factor 4 ISO associated with Wounds and Injuries;mRNA:increased expression:blood RGD PMID:32347511 RGD:329901817 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16767100 NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Deep venous thrombosis		 CTD
ClinVar		 PMID:11144008 PMID:15557913 PMID:19415734 PMID:25741868 PMID:31064749 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Deep venous thrombosis		 CTD
ClinVar		 PMID:7215189 PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 More... NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
G Ppbp pro-platelet basic protein ameliorates ISO associated with Wounds and Injuries;mRNA:increased expression:blood RGD PMID:32347511 PMID:23550035 RGD:329901817, RGD:401794958 NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO DNA:missense mutation:cds:p.Q184H (human)
DNA:silent mutation, missense mutation:cds:g.66C>T, p.R147W (human)
DNA:missense mutations: :p.D297H, p.V420L (human)
DNA:missense mutation: :c.565C>T (rs146922325) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis		 CTD
ClinVar
RGD		 PMID:1868249 PMID:7482420 PMID:8128429 PMID:8499565 PMID:8845458 More... RGD:1578515, RGD:1578391, RGD:11035247, RGD:11099989, RGD:11099990, RGD:11100014 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Pros1 protein S ISO DNA:missense mutation:cds:p.G295V (human)
ClinVar Annotator: match by term: Deep venous thrombosis		 ClinVar
RGD		 PMID:7803790 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 More... RGD:9743896 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466 		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 chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Serpina10 serpin family A member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thrombosis, susceptibility to		 CTD
ClinVar		 PMID:15461625 NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544 		JBrowse link
G Serpina5 serpin family A member 5 susceptibility ISO protein:increased expression:plasma (human) RGD PMID:12139754 RGD:1580299 NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407 		JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:55783 PMID:1483705 PMID:1555650 PMID:1977621 PMID:2336381 More... RGD:11035247, RGD:11035248 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Serpine1 serpin family E member 1 ISO
IMP
IEP		 DNA:deletion:promoter:g.-676_-674delG (human)
mRNA:increased expression:femoral vein (rat)		 RGD PMID:14653439 PMID:9535178 PMID:26535698 RGD:1580132, RGD:8547875, RGD:11060966 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		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 chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tbxa2r thromboxane A2 receptor treatment IMP RGD PMID:7848332 RGD:11059887 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma:
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:18480984 PMID:18600090 PMID:17973652 PMID:12560220 RGD:11060130, RGD:11060257, RGD:11060137 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:thrombus, vein RGD PMID:23199547 RGD:7207783 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		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 chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734 		JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761 		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 chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G F5 coagulation factor V severity
susceptibility
disease_progression		 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Budd-Chiari syndrome
DNA:missense mutation:cds:R506Q (human)
associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)		 OMIM
CTD
ClinVar
RGD		 PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 More... RGD:14700660, RGD:11537993, RGD:15036813, RGD:14700661 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		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 chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition: :677C>T (human)
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)		 RGD PMID:12221667 PMID:26238013 RGD:10449395, RGD:11537993 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		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 chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
cerebral venous thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebral venous thrombosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
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 chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
Lower Extremity Deep Vein Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Behcet Syndrome;protein:increased expression:serum (human) RGD PMID:16273763 RGD:8548850 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		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 chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		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 chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:27221722 PMID:25987440 RGD:14696705, RGD:14696749 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		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 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp4 aquaporin 4 IEP mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:SNP: :20210G>A (human) RGD PMID:22800650 PMID:14994919 RGD:7387258, RGD:7394774 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F5 coagulation factor V onset
no_association		 ISO associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:1691G>A (human)
DNA:SNP:cds:1691G>A (human)		 CTD
RGD		 PMID:12022286 PMID:10511031 PMID:16113792 PMID:10634550 RGD:7394767, RGD:7394778, RGD:7394773 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:10342378 RGD:8655593 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:snp, haplotype:cds:g.807C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12928694 PMID:12928694 RGD:8686430 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:21487926 RGD:5490120 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association		 ISO DNA:SNP: :677C>T(human)
DNA:missense mutation:cds:677C>T (human)
DNA:SNP: :1298A>C(human)		 RGD PMID:10485556 PMID:24250697 PMID:23289804 RGD:7387256, RGD:10449421, RGD:10449405 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nrp1 neuropilin 1 ISS MouseDO NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutation:cds:p.L55M (human)
protein:decreased activity:serum (human)		 RGD PMID:23441121 PMID:18084236 RGD:8547547, RGD:8547555 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		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:16244763 PMID:15213845 RGD:8547742, RGD:8547805 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16680105 PMID:21487926 RGD:5490120 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vegfb vascular endothelial growth factor B IEP RGD PMID:21487926 RGD:5490120 NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944 		JBrowse link
thrombophlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir223 microRNA 223 IMP RGD PMID:32141571 RGD:26884338 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Pros1 protein S ISO RGD PMID:12907438 RGD:1578677 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr20:3,314,830...3,318,106 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 chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 0
      cardiovascular system disease 5412
        vascular disease 4012
          thrombosis 147
            Venous Thrombosis 90
              Budd-Chiari syndrome + 5
              Lower Extremity Deep Vein Thrombosis 1
              Upper Extremity Deep Vein Thrombosis 0
              cerebral venous thrombosis 2
              portal vein thrombosis 4
              post-thrombotic syndrome 0
              retinal vein occlusion + 19
              thrombophlebitis + 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 0
      cardiovascular system disease 5412
        vascular disease 4012
          Embolism and Thrombosis 171
            thrombosis 147
              Venous Thrombosis 90
                Budd-Chiari syndrome + 5
                Lower Extremity Deep Vein Thrombosis 1
                Upper Extremity Deep Vein Thrombosis 0
                cerebral venous thrombosis 2
                portal vein thrombosis 4
                post-thrombotic syndrome 0
                retinal vein occlusion + 19
                thrombophlebitis + 3
paths to the root