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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 chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G APOE apolipoprotein E ISO RGD PMID:22119245 RGD:6903200 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,721,887...5,775,910
Ensembl chr19:5,755,146...5,775,109 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:vein RGD PMID:18167211 RGD:2307053 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		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 chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 ISO RGD PMID:7749835 RGD:5135275 NCBI chr 7:22,291,949...22,294,191
Ensembl chr 7:22,292,045...22,294,207 		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 chr19:2,436,534...2,441,930 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,627,924...5,657,773
Ensembl chr19:5,629,684...5,652,191 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 PMID:17547733 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		JBrowse link
G F11 coagulation factor XI susceptibility ISO protein:increased activity:blood: RGD PMID:10706899 RGD:11041768 NCBI chr 7:132,180,026...132,207,081
Ensembl chr 7:132,180,336...132,208,155 		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 chr23:79,414,074...79,438,896
Ensembl chr23:79,414,225...79,432,298 		JBrowse link
G F13A1 coagulation factor XIII A chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.V34L(human)		 RGD
CTD		 PMID:9920839 PMID:10365735 PMID:12358922 RGD:10450745 RGD:1581032 NCBI chr17:65,885,498...66,040,026
Ensembl chr17:65,885,658...66,040,040 		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 chr25:32,357,540...32,390,349
Ensembl chr25:32,357,993...32,389,973 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414 NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:19486170 PMID:25741868 PMID:31064749 NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872 		JBrowse link
G F7 coagulation factor VII treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:14967414 PMID:16378835 RGD:11041650 NCBI chr 3:91,109,864...91,122,707
Ensembl chr 3:91,110,380...91,123,327 		JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15634269 PMID:16875063 RGD:1582359 NCBI chr  X:129,090,140...129,315,343
Ensembl chr  X:129,088,611...129,312,909 		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 chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405 		JBrowse link
G FGB fibrinogen beta chain ISO ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:12573244 PMID:15795540 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 7:101,106,468...101,114,566
Ensembl chr 7:101,106,483...101,114,662 		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 chr19:5,889,395...5,959,515
Ensembl chr19:5,890,567...5,959,510 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:6,020,618...6,021,646 JBrowse link
G GP6 glycoprotein VI platelet treatment ISO protein:increased expression:plasma (human) RGD PMID:16254207 PMID:25253166 RGD:401794452 RGD:401824681 NCBI chr 6:47,614,221...47,630,020
Ensembl chr 6:47,614,384...47,624,160 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:23426106 RGD:11352755 NCBI chr22:10,754,976...10,756,617 JBrowse link
G HABP2 hyaluronan binding protein 2 ISO DNA:SNP: :p.G534E (rs7080536) (human) RGD PMID:22421107 RGD:11353820 NCBI chr 9:106,435,439...106,472,967
Ensembl chr 9:106,436,685...106,474,544 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:36162953 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G IL10 interleukin 10 susceptibility ISO RGD PMID:16807647 RGD:1598472 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:22318348 RGD:8655957 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:17651586 RGD:2311092 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:17651586 RGD:2311092 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:haplotype::rs2232354(human) RGD PMID:17413037 RGD:11528540 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G ITGA2 integrin subunit alpha 2 no_association ISO RGD PMID:16380674 RGD:1582295 NCBI chr 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051 		JBrowse link
G ITGB3 integrin subunit beta 3 susceptibility ISO associated with Behcet Syndrome; DNA:polymorphism: : RGD PMID:21813062 RGD:8693342 NCBI chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857 		JBrowse link
G JAK2 Janus kinase 2 no_association ISO DNA:SNP: :rs10974944 (human)
DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)
DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17059429 PMID:20434300 PMID:23845539 RGD:10449376 RGD:10449391 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26600200 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,211,732...5,264,953
Ensembl chr19:5,218,653...5,265,063 		JBrowse link
G LOC103233689 thromboxane A2 receptor treatment ISO RGD PMID:7848332 RGD:11059887 NCBI chr 6:3,354,358...3,365,779
Ensembl chr 6:3,355,314...3,359,761 		JBrowse link
G LPA lipoprotein(a) ISO CTD Direct Evidence: marker/mechanism CTD PMID:9164807 NCBI chr13:88,077,041...88,337,256 JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,111,512...5,195,677
Ensembl chr19:5,112,435...5,167,139 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:16171603 RGD:1582570 NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16171603 PMID:20515599 RGD:1582570 RGD:2325775 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:20515599 RGD:2325775 NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:femoral vein (rat) RGD PMID:16920980 PMID:20515599 RGD:1582648 RGD:2325775 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:transition: :677C>T (human)
DNA:transition:cds:g.677C>T (human)
associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)		 CTD
RGD		 PMID:10792297 PMID:10929044 PMID:12442281 PMID:19123085 PMID:22707612 RGD:10449394 RGD:1580590 RGD:6893602 RGD:6893655 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with orthopedic surgery;DNA:SNP::rs1799983(human) RGD PMID:23922896 RGD:11533639 NCBI chr21:119,174,829...119,196,840 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 chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396 		JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16767100 NCBI chr20:3,913,163...3,914,853
Ensembl chr20:3,913,336...3,914,607 		JBrowse link
G PLAT plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555 		JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913 NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 PMID:16849641 More... NCBI chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644 		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 chr 7:22,470,670...22,471,841
Ensembl chr 7:22,470,573...22,471,809 		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 chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531 		JBrowse link
G PROS1 protein S ISO ClinVar Annotator: match by term: Deep vein thrombosis ClinVar PMID:7803790 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 More... NCBI chr22:86,728,089...86,840,413
Ensembl chr22:86,728,339...86,840,356 		JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,611,968...5,622,414
Ensembl chr19:5,612,268...5,622,191 		JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,890,989...5,895,243 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,469,854...5,497,858 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 chr19:5,265,730...5,282,092
Ensembl chr19:5,268,630...5,282,092 		JBrowse link
G SERPINA10 serpin family A member 10 ISO ClinVar Annotator: match by term: Venous thrombosis, susceptibility to ClinVar PMID:15461625 PMID:25741868 NCBI chr24:72,059,523...72,069,989
Ensembl chr24:72,058,780...72,069,085 		JBrowse link
G SERPINA5 serpin family A member 5 susceptibility ISO protein:increased expression:plasma (human) RGD PMID:12139754 RGD:1580299 NCBI chr24:72,369,082...72,388,439
Ensembl chr24:72,381,119...72,384,903 		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 chr25:55,271,823...55,289,855 JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:4,709,896...4,724,620
Ensembl chr19:4,715,806...4,726,111 		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 chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202 		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 chr19:5,672,758...5,717,574
Ensembl chr19:5,672,180...5,701,361 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G TFPI tissue factor pathway inhibitor ISO CTD Direct Evidence: therapeutic
protein:increased expression:plasma:		 CTD
RGD		 PMID:12560220 PMID:17973652 PMID:18480984 PMID:18600090 RGD:11060130 RGD:11060137 RGD:11060257 NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858 		JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,622,542...5,627,923
Ensembl chr19:5,622,630...5,627,257 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:thrombus, vein RGD PMID:23199547 RGD:7207783 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862 		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 chr19:5,591,311...5,607,448
Ensembl chr19:5,589,090...5,607,387 		JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr19:5,302,966...5,318,084 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 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G F5 coagulation factor V disease_progression
susceptibility
severity		 ISO DNA:missense mutation:cds:R506Q (human)
ClinVar Annotator: match by term: Budd-Chiari syndrome
Factor V Leiden;DNA:missense mutation:cds:G1691A (human)
associated with hyperhomocysteinemia: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 chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872 		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 chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729 		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 chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		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 chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		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 chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531 		JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr16:1,408,453...1,424,197 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 chr 6:11,883,353...12,307,023 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 chr23:53,576,950...53,585,321 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 chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
portal vein thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:25987440 PMID:27221722 RGD:14696705 RGD:14696749 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202 		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 chr21:27,456,553...27,473,196
Ensembl chr21:27,456,259...27,470,728 		JBrowse link
G AQP4 aquaporin 4 ISO mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156 		JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377 		JBrowse link
G F5 coagulation factor V onset
no_association		 ISO DNA:missense mutation:cds:1691G>A (human)
associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:1691G>A (human)		 RGD
CTD		 PMID:10511031 PMID:10634550 PMID:12022286 PMID:16113792 RGD:7394767 RGD:7394773 RGD:7394778 NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10342378 RGD:8655593 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL6 interleukin 6 ISO RGD PMID:21487926 RGD:5490120 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snp, haplotype:cds:g.807C>T (human)		 CTD
RGD		 PMID:12928694 RGD:8686430 NCBI chr 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:21487926 RGD:5490120 NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		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:23289804 PMID:24250697 RGD:10449405 RGD:10449421 RGD:7387256 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NRP1 neuropilin 1 ISO MouseDO NCBI chr 9:32,474,787...32,632,746
Ensembl chr 9:32,474,309...32,633,101 		JBrowse link
G PON1 paraoxonase 1 susceptibility ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.L55M (human)		 RGD PMID:18084236 PMID:23441121 RGD:8547547 RGD:8547555 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		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 chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202 		JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr16:1,408,453...1,424,197 JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16680105 PMID:21487926 RGD:5490120 NCBI chr17:28,377,959...28,394,508 JBrowse link
G VEGFB vascular endothelial growth factor B ISO RGD PMID:21487926 RGD:5490120 NCBI chr 1:9,997,820...10,001,518
Ensembl chr 1:9,997,665...10,001,429 		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 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051 		JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr16:1,408,453...1,424,197 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 0
      cardiovascular system disease 4392
        vascular disease 2996
          thrombosis 142
            Venous Thrombosis 87
              Budd-Chiari syndrome + 5
              Lower Extremity Deep Vein Thrombosis 1
              Upper Extremity Deep Vein Thrombosis 0
              cerebral venous thrombosis 2
              portal vein thrombosis 3
              post-thrombotic syndrome 0
              retinal vein occlusion + 18
              thrombophlebitis + 0
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 0
      cardiovascular system disease 4392
        vascular disease 2996
          Embolism and Thrombosis 161
            thrombosis 142
              Venous Thrombosis 87
                Budd-Chiari syndrome + 5
                Lower Extremity Deep Vein Thrombosis 1
                Upper Extremity Deep Vein Thrombosis 0
                cerebral venous thrombosis 2
                portal vein thrombosis 3
                post-thrombotic syndrome 0
                retinal vein occlusion + 18
                thrombophlebitis + 0
paths to the root