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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:Embolism and Thrombosis
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Accession:DOID:9001268 term browser browse the term
Definition:A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream.
Synonyms:primary_id: MESH:D016769;   RDO:0005454
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Embolism and Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III ISO RGD PMID:16038715 RGD:11340219 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: therapeutic CTD PMID:9684808 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO RGD PMID:15467899 RGD:11341677 NCBI chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
JBrowse link
Arterial Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:12714830 PMID:11167855 RGD:11041657, RGD:11049507 NCBI chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Arterial thrombosis ClinVar PMID:25741868 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:plantar, foot muscle (rat) RGD PMID:22351094 RGD:8695963 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Il17a interleukin 17A IDA mouse protein in a rat model RGD PMID:24940514 RGD:9068933 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 treatment ISO RGD PMID:25482922 RGD:11530049 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Plat plasminogen activator, tissue treatment ISO associated with Antiphospholipid Syndrome RGD PMID:14630788 PMID:24806322 RGD:11541057, RGD:11541078 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:plasma (rat) RGD PMID:26857113 RGD:11073687 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO human protein in a rat model RGD PMID:17850801 RGD:8655540 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:26374946 RGD:13208952 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
Budd-Chiari syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A-I ISO protein: decreased expression: plasma (human) RGD PMID:21145806 RGD:25671435 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G F5 coagulation factor V disease_progression
susceptibility
severity
ISO ClinVar Annotator: match by term: Budd-Chiari syndrome
DNA:missense mutation:cds:R506Q (human)
associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
ClinVar Annotator: match by OMIM:600880
OMIM
ClinVar
RGD
PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 More... RGD:11537993, RGD:15036813, RGD:14700661, RGD:14700660 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr19:29,321,354...29,325,318
Ensembl chr19:29,321,344...29,325,356
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome
ClinVar Annotator: match by OMIM:600880
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
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 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
carotid artery thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:17969370 RGD:2313859 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide IMP RGD PMID:17095718 RGD:11040529 NCBI chr16:18,620,319...18,622,403
Ensembl chr16:18,620,317...18,622,403
JBrowse link
G Hmox1 heme oxygenase 1 treatment IMP associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Itga2b integrin alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr11:102,453,297...102,469,883
Ensembl chr11:102,453,297...102,470,122
JBrowse link
G Itgb3 integrin beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Klkb1 kallikrein B, plasma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr 8:45,266,688...45,294,835
Ensembl chr 8:45,266,689...45,294,859
JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr16:17,331,371...17,343,574
Ensembl chr16:17,331,371...17,343,575
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr 8:3,630,960...3,643,998
Ensembl chr 8:3,630,955...3,643,644
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:28572286 RGD:15090824 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
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 treatment ISO RGD PMID:20688738 RGD:11100028 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
cholesterol embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: marker/mechanism CTD PMID:7939511 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16773802 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
coronary thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8598867 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: therapeutic CTD PMID:1452937 PMID:8172379 PMID:15301905 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
Embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein 1b, alpha polypeptide susceptibility ISO associated with infective endocarditis;DNA:repeat:CDS:(human) RGD PMID:23611001 RGD:42722623 NCBI chr11:70,639,102...70,643,986
Ensembl chr11:70,639,122...70,642,036
JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO RGD PMID:15920147 RGD:1582578 NCBI chr14:54,431,598...54,442,456
Ensembl chr14:54,431,612...54,445,364
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:15920147 RGD:1582578 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: therapeutic CTD PMID:16148626 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
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 chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
heparin cofactor II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Heparin cofactor II deficiency
ClinVar Annotator: match by term: Thrombotic stroke
ClinVar PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 More... NCBI chr16:17,280,351...17,406,314
Ensembl chr16:17,280,351...17,406,314
JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO ClinVar Annotator: match by term: Heparin cofactor II deficiency
ClinVar Annotator: match by term: Thrombotic stroke
ClinVar Annotator: match by OMIM:612356
OMIM
ClinVar
PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 More... NCBI chr16:17,331,371...17,343,574
Ensembl chr16:17,331,371...17,343,575
JBrowse link
intracranial embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho susceptibility ISO DNA:polymorphism:promoter:-395G>A(human) RGD PMID:16973281 RGD:10403059 NCBI chr 5:150,952,607...150,993,817
Ensembl chr 5:150,952,607...150,993,817
JBrowse link
Intracranial Embolism and Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: therapeutic CTD PMID:7482654 PMID:8427107 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
intracranial sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:12269725 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
intracranial thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: therapeutic CTD PMID:8678742 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Vwf Von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
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 chemokine (C-C motif) ligand 2 ISO associated with Behcet Syndrome;protein:increased expression:serum (human) RGD PMID:16273763 RGD:8548850 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
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 severity ISO associated with liver cirrhosis;protein:increased expression:plasma (human) RGD PMID:28465646 RGD:14985237 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G Igf1r insulin-like growth factor I receptor susceptibility ISO associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) RGD PMID:24758241 RGD:14985227 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:27221722 PMID:25987440 RGD:14696705, RGD:14696749 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
pulmonary embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:2510358 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:heart right ventricle (rat) RGD PMID:16814320 RGD:11528528 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:right ventricle (rat) RGD PMID:19602618 RGD:2314488 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chr 8:94,772,180...94,782,427
Ensembl chr 8:94,772,009...94,782,427
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link
G Dab2ip disabled 2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20622881 NCBI chr 2:35,558,446...35,730,994
Ensembl chr 2:35,558,266...35,730,994
JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased secretion:plasma (rat) RGD PMID:20559433 RGD:4144858 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G F13a1 coagulation factor XIII, A1 subunit ISO RGD PMID:12958612 RGD:1581021 NCBI chr13:36,867,178...37,050,244
Ensembl chr13:36,867,178...37,050,244
JBrowse link
G F2 coagulation factor II susceptibility
no_association
ISO DNA:SNP:3' utr:19911A>G (human)
DNA:SNP:3' utr:20221C>T (human)
RGD PMID:25316662 PMID:25316662 RGD:10449427, RGD:10449427 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F5 coagulation factor V ISO RGD PMID:14996674 RGD:4892657 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:blood microparticle
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10910940 PMID:22014850 RGD:5688769 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Fgb fibrinogen beta chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chr 3:83,042,246...83,049,863
Ensembl chr 3:83,040,141...83,049,863
JBrowse link
G Fgg fibrinogen gamma chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chr 3:83,007,724...83,015,056
Ensembl chr 3:83,007,724...83,015,049
JBrowse link
G Hp haptoglobin ISO mRNA, protein:increased expression:lung, liver, serum
protein:decreased expression:blood microparticle
RGD PMID:17203959 PMID:22014850 PMID:19566548 PMID:19943874 RGD:1626365, RGD:5688769, RGD:5147425, RGD:5147419 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Klkb1 kallikrein B, plasma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr 8:45,266,688...45,294,835
Ensembl chr 8:45,266,689...45,294,859
JBrowse link
G Mertk MER proto-oncogene tyrosine kinase IAGP
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:19028587 PMID:15130911 RGD:1582496 NCBI chr 2:128,698,915...128,803,162
Ensembl chr 2:128,698,956...128,802,894
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16304337 RGD:1582630 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16304337 RGD:1582630 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19123085 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO mRNA, protein:increased expression:lung RGD PMID:17219957 RGD:2292151 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nppb natriuretic peptide type B disease_progression ISO protein:increased expression:plasma RGD PMID:23562569 RGD:7247621 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1899825 PMID:2123154 PMID:3105914 PMID:3122266 PMID:8082347 More... NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1098216 PMID:4430106 PMID:4884574 PMID:9038699 PMID:9266785 More... NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Proc protein C ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Pros1 protein S (alpha) ISO RGD PMID:12907438 RGD:1578677 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
G Serpinf2 serine (or cysteine) peptidase inhibitor, clade F, member 2 severity IMP RGD PMID:12911586 RGD:1580302 NCBI chr11:75,431,736...75,439,501
Ensembl chr11:75,431,732...75,439,591
JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740511 NCBI chr10:81,328,268...81,335,174
Ensembl chr10:81,328,731...81,335,172
JBrowse link
G Tbxas1 thromboxane A synthase 1, platelet ISO RGD PMID:12639842 RGD:1601456 NCBI chr 6:38,864,159...39,084,590
Ensembl chr 6:38,875,404...39,084,585
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7811989 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:lung RGD PMID:19915157 RGD:7240517 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2510358 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
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 ISO RGD PMID:21487926 RGD:5490120 NCBI chr 6:55,336,299...55,348,555
Ensembl chr 6:55,336,432...55,348,555
JBrowse link
G Aqp4 aquaporin 4 ISO mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G F2 coagulation factor II no_association ISO DNA:SNP: :20210G>A (human) RGD PMID:22800650 PMID:14994919 RGD:7387258, RGD:7394774 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
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 chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10342378 RGD:8655593 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:21487926 RGD:5490120 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Itga2 integrin 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 chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO RGD PMID:21487926 RGD:5490120 NCBI chr 1:172,341,210...172,374,085
Ensembl chr 1:172,341,210...172,374,085
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
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 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Nrp1 neuropilin 1 IEA MouseDO NCBI chr 8:128,358,591...128,505,476
Ensembl chr 8:128,358,604...128,503,363
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 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade 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 chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16680105 PMID:21487926 RGD:5490120 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:21487926 RGD:5490120 NCBI chr19:6,982,472...6,987,651
Ensembl chr19:6,982,473...6,987,651
JBrowse link
sagittal sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO
IEA
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
OMIM:242900
ClinVar Annotator: match by OMIM:242900
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:9536098 PMID:11799392 PMID:15523612 PMID:15880370 PMID:16199547 More... RGD:1599053 NCBI chr 1:72,536,695...72,636,790
Ensembl chr 1:72,583,251...72,633,134
JBrowse link
Thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpb2 carboxypeptidase B2 (plasma) ISO RGD PMID:14739223 RGD:1598476 NCBI chr14:75,242,287...75,283,555
Ensembl chr14:75,242,287...75,283,555
JBrowse link
G F12 coagulation factor XII (Hageman factor) IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16009717 PMID:16009717 PMID:16009717 RGD:11041771, RGD:11041771 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G F2 coagulation factor II ISO associated with infective endocarditis;protein:increased expression:blood plasma (human)
CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:polymorphism: :20210G>A(human)
CTD
RGD
PMID:14693181 PMID:11471205 PMID:15049384 PMID:21955693 RGD:1580340, RGD:40819860, RGD:6893596 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F3 coagulation factor III ISO RGD PMID:24402608 RGD:11341738 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thromboembolism
CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:mutation: :
ClinVar
CTD
RGD
PMID:14693181 PMID:20554945 PMID:25741868 PMID:31064749 PMID:11471205 More... RGD:1580340, RGD:6893596 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:20172985 NCBI chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:15634269 RGD:1582359 NCBI chr  X:75,170,344...75,382,738
Ensembl chr  X:75,172,715...75,382,615
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:83,007,724...83,015,056
Ensembl chr 3:83,007,724...83,015,049
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16564713 NCBI chr 8:13,465,374...13,494,535
Ensembl chr 8:13,465,374...13,494,490
JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide IMP RGD PMID:17095718 RGD:11040529 NCBI chr16:18,620,319...18,622,403
Ensembl chr16:18,620,317...18,622,403
JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Mertk MER proto-oncogene tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD PMID:17047157 NCBI chr 2:128,698,915...128,803,162
Ensembl chr 2:128,698,956...128,802,894
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO DNA:repeats:intron RGD PMID:10531147 RGD:5128481 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: therapeutic CTD PMID:8451030 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3718210 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Proc protein C ISO ClinVar Annotator: match by term: Thromboembolism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1868249 PMID:8052960 PMID:8093743 PMID:25741868 PMID:31064749 More... RGD:1578517 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thromboembolism
CTD
ClinVar
PMID:8052960 PMID:25741868 PMID:31064749 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO protein:decreased expression:plasma RGD PMID:12297123 PMID:12970515 RGD:1580720, RGD:1580693 NCBI chr 8:13,060,584...13,076,026
Ensembl chr 8:13,060,914...13,076,026
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:1483705 PMID:1977621 PMID:3472589 PMID:25741868 PMID:28492532 More... NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:24098750 RGD:11038685 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9118606 NCBI chr 2:164,579,519...164,585,784
Ensembl chr 2:164,579,519...164,585,447
JBrowse link
thrombophlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-M2 histocompatibility 2, M region locus 2 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr17:35,379,617...35,384,674
Ensembl chr17:35,379,617...35,385,290
JBrowse link
G Mir223 microRNA 223 ISO RGD PMID:32141571 RGD:26884338 NCBI chr  X:96,242,817...96,242,926
Ensembl chr  X:96,242,817...96,242,926
JBrowse link
G Pros1 protein S (alpha) ISO RGD PMID:12907438 RGD:1578677 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 treatment ISO RGD PMID:20111697 RGD:9685451 NCBI chr  X:164,139,342...164,188,418
Ensembl chr  X:164,139,332...164,188,420
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:11881036 PMID:21501650 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr11:108,395,297...108,414,396
Ensembl chr11:108,343,354...108,414,396
JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514058 NCBI chr12:105,563,172...105,595,244
Ensembl chr12:105,563,226...105,595,237
JBrowse link
G C5ar1 complement component 5a receptor 1 ISO associated with Anti-Glomerular Basement Membrane Disease RGD PMID:11422211 RGD:1600652 NCBI chr 7:16,246,743...16,259,540
Ensembl chr 7:16,246,743...16,259,540
JBrowse link
G Cd2 CD2 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16932337 NCBI chr 3:101,275,908...101,287,939
Ensembl chr 3:101,275,899...101,287,939
JBrowse link
G Cd40 CD40 antigen IMP RGD PMID:21914625 RGD:5490522 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand susceptibility
treatment
IMP
ISO
associated with Endotoxemia
protein:increased expression:plasma (human)
RGD PMID:21914625 PMID:15306157 PMID:27085896 RGD:5490522, RGD:11352250, RGD:11344959 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:16931792 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20978260 NCBI chr19:39,389,556...39,463,103
Ensembl chr19:39,389,556...39,463,075
JBrowse link
G Cyp3a11 cytochrome P450, family 3, subfamily a, polypeptide 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16754899 NCBI chr 5:145,854,607...145,879,854
Ensembl chr 5:145,854,426...145,879,964
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14979412 PMID:25013951 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G F10 coagulation factor X ISO CTD Direct Evidence: marker/mechanism CTD PMID:1279834 NCBI chr 8:13,037,308...13,056,676
Ensembl chr 8:13,037,308...13,056,676
JBrowse link
G F11 coagulation factor XI susceptibility ISO DNA:SNPs:intron: rs2289252,rs2036914(human) RGD PMID:22633531 PMID:19583818 RGD:11041774, RGD:11041778 NCBI chr 8:45,240,659...45,262,055
Ensembl chr 8:45,241,174...45,262,031
JBrowse link
G F2 coagulation factor II treatment
no_association
ISO
IMP
DNA:mutation: :20210G>A (human)
CTD Direct Evidence: marker/mechanism
associated with Carotid Artery Injuries
associated with Behcet Syndrome;DNA:mutation: :20210G>A (human)
CTD
RGD
PMID:1279834 PMID:10064001 PMID:11132655 PMID:17245631 PMID:21070754 More... RGD:6893603, RGD:11035267, RGD:10449423, RGD:7394765, RGD:7387314, RGD:7387259 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F2r coagulation factor II (thrombin) receptor TAS RGD PMID:14529396 RGD:1581036 NCBI chr13:95,601,780...95,618,466
Ensembl chr13:95,601,803...95,618,487
JBrowse link
G F3 coagulation factor III ISO associated with Antiphospholipid Syndrome
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11858183 PMID:25339356 PMID:9153543 RGD:11340222 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G F5 coagulation factor V ISO
IMP
associated with kidney failure, chronic;DNA:mutation: :1691G>A(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9164807 PMID:11132655 PMID:16549134 PMID:11110695 RGD:6893627, RGD:11564340 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism CTD PMID:1279834 NCBI chr  X:59,999,329...60,030,760
Ensembl chr  X:59,999,464...60,030,759
JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO RGD PMID:18983497 RGD:11040996 NCBI chr 1:171,051,169...171,065,915
Ensembl chr 1:171,051,174...171,064,935
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8473507 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Fgb fibrinogen beta chain susceptibility ISO associated with Lupus Nephritis;;DNA:polymorphism: :-455G>A (human) RGD PMID:17469143 RGD:7175506 NCBI chr 3:83,042,246...83,049,863
Ensembl chr 3:83,040,141...83,049,863
JBrowse link
G Flt3 FMS-like tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16932337 NCBI chr 5:147,330,741...147,400,489
Ensembl chr 5:147,330,741...147,400,489
JBrowse link
G Fut4 fucosyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16932337 NCBI chr 9:14,748,459...14,752,122
Ensembl chr 9:14,748,320...14,752,393
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11175853 PMID:15130911 PMID:15733062 PMID:16564713 NCBI chr 8:13,465,374...13,494,535
Ensembl chr 8:13,465,374...13,494,490
JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334511 NCBI chr11:70,639,102...70,643,986
Ensembl chr11:70,639,122...70,642,036
JBrowse link
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24213632 NCBI chr 3:82,092,427...82,145,946
Ensembl chr 3:82,092,427...82,145,789
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15367830 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Hmox1 heme oxygenase 1 IDA
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:19168058 PMID:15242554 RGD:1598405 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hrg histidine-rich glycoprotein ISO DNA, protein:missense mutation, decreased expression:exon, plasma:p.G85E (429G>A) (human) RGD PMID:9414276 RGD:1599656 NCBI chr16:22,951,072...22,961,659
Ensembl chr16:22,951,072...22,961,656
JBrowse link
G Il10 interleukin 10 IAGP RGD PMID:12765335 RGD:1598469 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO associated with Behcet Syndrome;DNA:snp:cds:c.807C>T (human) RGD PMID:14563646 PMID:12412731 RGD:1582298, RGD:1582300 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Jak2 Janus kinase 2 IAGP associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) RGD PMID:22467227 RGD:15039391 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Klf4 Kruppel-like factor 4 (gut) ISO CTD Direct Evidence: therapeutic CTD PMID:25339356 NCBI chr 4:55,527,137...55,532,475
Ensembl chr 4:55,527,143...55,532,466
JBrowse link
G Klkb1 kallikrein B, plasma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr 8:45,266,688...45,294,835
Ensembl chr 8:45,266,689...45,294,859
JBrowse link
G Lrp8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor IMP associated with Antiphospholipid Syndrome RGD PMID:21119114 RGD:6483062 NCBI chr 4:107,802,200...107,876,840
Ensembl chr 4:107,801,869...107,876,840
JBrowse link
G Mas1 MAS1 oncogene ISO CTD Direct Evidence: therapeutic CTD PMID:25339356 NCBI chr17:12,838,841...12,868,150
Ensembl chr17:12,841,079...12,868,143
JBrowse link
G Mertk MER proto-oncogene tyrosine kinase IAGP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15130911 PMID:15130911 RGD:1582496 NCBI chr 2:128,698,915...128,803,162
Ensembl chr 2:128,698,956...128,802,894
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1607insG (rs11292517) (human) RGD PMID:20616161 RGD:7207048 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1607insG (rs11292517) (human) RGD PMID:20616161 RGD:7207048 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1612insA (rs35068180) (human) RGD PMID:20616161 RGD:7207048 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Arteriovenous Fistula;DNA:snp:promoter:g.-1562C>A (rs34016235) (human) RGD PMID:20616161 RGD:7207048 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :677C>T (human) RGD PMID:10780318 RGD:10449414 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G P2ry1 purinergic receptor P2Y, G-protein coupled 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334511 NCBI chr 3:61,002,785...61,008,982
Ensembl chr 3:61,002,795...61,008,982
JBrowse link
G P2ry12 purinergic receptor P2Y, G-protein coupled 12 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17334511 PMID:12897207 PMID:19692114 RGD:1580187, RGD:6480647 NCBI chr 3:59,216,271...59,262,985
Ensembl chr 3:59,216,272...59,262,871
JBrowse link
G Pde3a phosphodiesterase 3A, cGMP inhibited ISO CTD Direct Evidence: marker/mechanism CTD PMID:17482796 NCBI chr 6:141,249,269...141,506,862
Ensembl chr 6:141,249,269...141,507,448
JBrowse link
G Pf4 platelet factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8282825 PMID:9446652 PMID:11588041 PMID:15795722 NCBI chr 5:90,772,435...90,773,383
Ensembl chr 5:90,772,435...90,773,383
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO RGD PMID:15834429 RGD:1580861 NCBI chr 9:99,038,402...99,140,235
Ensembl chr 9:99,036,654...99,140,621
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2123154 PMID:12677255 PMID:19348381 PMID:22352330 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO protein:increased activity:extracellular region (rat)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:2106299 PMID:2133253 PMID:2795766 PMID:4884574 PMID:8657906 More... RGD:2325698 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Podxl podocalyxin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22016802 NCBI chr 6:31,519,493...31,563,937
Ensembl chr 6:31,519,488...31,563,981
JBrowse link
G Proc protein C treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8967151 PMID:9164807 PMID:11132655 PMID:18376272 PMID:8073406 RGD:11250413 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:10706858 PMID:11132655 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
G Ptger3 prostaglandin E receptor 3 (subtype EP3) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17242161 NCBI chr 3:157,566,821...157,644,758
Ensembl chr 3:157,566,892...157,645,888
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20350286 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Selp selectin, platelet ISO CTD Direct Evidence: marker/mechanism CTD PMID:10544909 NCBI chr 1:164,115,264...164,150,026
Ensembl chr 1:164,115,264...164,150,026
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 treatment ISO DNA:missense mutation:cds:p.F229L (human)
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:2133253 PMID:6889048 PMID:8967151 PMID:11132655 PMID:12595305 More... RGD:1580119, RGD:11035267 NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility
no_association
ISO associated with Lupus Nephritis;;DNA:insertion/deletion: :
CTD Direct Evidence: marker/mechanism
associated with Behcet Syndrome;DNA:deletion:promoter:g.-676_-674delG (human)
associated with Behcet Syndrome;protein:increased expression:plasma (human)
CTD
RGD
PMID:12677255 PMID:22352330 PMID:17469143 PMID:12632020 PMID:7495343 RGD:7175506, RGD:7394765, RGD:8547802 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25339356 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IMP RGD PMID:9845553 RGD:11059524 NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
JBrowse link
G Tbxas1 thromboxane A synthase 1, platelet ISO RGD PMID:12384182 RGD:1601457 NCBI chr 6:38,864,159...39,084,590
Ensembl chr 6:38,875,404...39,084,585
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11132655 PMID:11518727 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19691487 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase 3 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15733062 PMID:15733062 RGD:1580531 NCBI chr 2:119,797,740...119,818,104
Ensembl chr 2:119,797,733...119,818,104
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581108 NCBI chr 7:127,893,063...127,895,658
Ensembl chr 7:127,886,227...127,895,454
Ensembl chr 7:127,886,227...127,895,454
JBrowse link
G Vtn vitronectin ISO RGD PMID:15069014 RGD:1580815 NCBI chr11:78,499,120...78,502,325
Ensembl chr11:78,499,091...78,502,324
JBrowse link
G Vwf Von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3875694 PMID:22352330 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
JBrowse link
Venous Thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase) susceptibility ISO DNA:polymorphism:: RGD PMID:15735796 RGD:11100013 NCBI chr 2:26,842,496...26,864,995
Ensembl chr 2:26,842,503...26,864,979
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G B3gat2 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chr 1:23,761,926...23,847,865
Ensembl chr 1:23,761,753...23,849,158
JBrowse link
G Cd46 CD46 antigen, complement regulatory protein severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chr 1:195,038,971...195,098,784
Ensembl chr 1:195,036,826...195,092,249
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
RGD
PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... RGD:5147763, RGD:10449100 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
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
RGD
PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493 RGD:10449100, RGD:11536892 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
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 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Habp2 hyaluronic acid binding protein 2 disease_progression ISO DNA:SNP: :p.G534E (rs7080536) (human)
ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to
ClinVar
RGD
PMID:12138371 PMID:12578864 PMID:15486068 PMID:26222560 PMID:26581001 More... RGD:11353820 NCBI chr19:56,287,109...56,320,820
Ensembl chr19:56,287,137...56,320,822
JBrowse link
G Kng2 kininogen 2 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chr16:22,985,852...23,029,101
Ensembl chr16:22,985,854...23,029,482
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 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Proc protein C ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:9149031 PMID:21445774 PMID:11434940 PMID:24162787 RGD:11099984, RGD:11099988 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Pros1 protein S (alpha) ISO RGD PMID:11434940 PMID:26466767 RGD:11099984, RGD:11251678 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
G Selp selectin, platelet ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chr 1:164,115,264...164,150,026
Ensembl chr 1:164,115,264...164,150,026
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr16:17,331,371...17,343,574
Ensembl chr16:17,331,371...17,343,575
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vwf Von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
JBrowse link
Venous Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 treatment ISO RGD PMID:21095090 RGD:10449099 NCBI chr 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Apoe apolipoprotein E IMP RGD PMID:22119245 RGD:6903200 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,348,182...18,407,076
Ensembl chr16:18,348,182...18,407,076
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:vein RGD PMID:18167211 RGD:2307053 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
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 chr16:18,406,882...18,426,716
Ensembl chr16:18,406,886...18,426,852
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chr11:54,247,270...54,249,899
Ensembl chr11:54,247,271...54,249,667
JBrowse link
G Cxcl5 chemokine (C-X-C motif) ligand 5 ISO RGD PMID:7749835 RGD:5135275 NCBI chr 5:90,759,298...90,761,625
Ensembl chr 5:90,759,360...90,761,624
JBrowse link
G Dgcr8 DGCR8, microprocessor complex subunit ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,253,948...18,289,251
Ensembl chr16:18,253,948...18,289,246
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 PMID:17547733 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G F11 coagulation factor XI susceptibility ISO protein:increased activity:blood: RGD PMID:10706899 RGD:11041768 NCBI chr 8:45,240,659...45,262,055
Ensembl chr 8:45,241,174...45,262,031
JBrowse link
G F12 coagulation factor XII (Hageman factor) 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 chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G F13a1 coagulation factor XIII, A1 subunit 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 chr13:36,867,178...37,050,244
Ensembl chr13:36,867,178...37,050,244
JBrowse link
G F13b coagulation factor XIII, beta subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thrombosis, susceptibility to
CTD
ClinVar
PMID:12456499 PMID:16241947 PMID:25741868 NCBI chr 1:139,501,547...139,523,758
Ensembl chr 1:139,501,702...139,523,752
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9869612 PMID:12296757 PMID:19920886 PMID:9409269 PMID:23535565 RGD:1580342, RGD:10449430 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F3 coagulation factor III ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (human)
ClinVar Annotator: match by term: 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 chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G F7 coagulation factor VII treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14967414 PMID:16378835 RGD:11041650 NCBI chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16875063 PMID:15634269 RGD:1582359 NCBI chr  X:75,170,344...75,382,738
Ensembl chr  X:75,172,715...75,382,615
JBrowse link
G Fga fibrinogen alpha chain ISO DNA:SNP: :rs6050 (human)
protein:increased expression:peripheral blood (rat)
RGD PMID:22353194 PMID:23199547 RGD:5688756, RGD:7207783 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:12573244 PMID:15795540 PMID:25741868 PMID:31064749 NCBI chr 3:83,042,246...83,049,863
Ensembl chr 3:83,040,141...83,049,863
JBrowse link
G Gm14305 predicted gene 14305 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr 2:176,708,353...176,721,813
Ensembl chr 2:176,708,328...176,721,813
JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 1-like ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,497,386...18,566,680
Ensembl chr16:18,498,713...18,566,679
JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,620,319...18,622,403
Ensembl chr16:18,620,317...18,622,403
JBrowse link
G Gpx1 glutathione peroxidase 1 IMP RGD PMID:23426106 RGD:11352755 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Habp2 hyaluronic acid binding protein 2 ISO DNA:SNP: :p.G534E (rs7080536) (human) RGD PMID:22421107 RGD:11353820 NCBI chr19:56,287,109...56,320,820
Ensembl chr19:56,287,137...56,320,822
JBrowse link
G Hp haptoglobin ISO associated with Pulmonary Embolism;protein:increased expression:serum RGD PMID:17203959 RGD:1626365 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Il10 interleukin 10 susceptibility ISO RGD PMID:16807647 RGD:1598472 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:22318348 RGD:8655957 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:17651586 RGD:2311092 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:17651586 RGD:2311092 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:haplotype::rs2232354(human) RGD PMID:17413037 RGD:11528540 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Itga2 integrin alpha 2 no_association ISO RGD PMID:16380674 RGD:1582295 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Itgb3 integrin beta 3 susceptibility ISO associated with Behcet Syndrome; DNA:polymorphism: : RGD PMID:21813062 RGD:8693342 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Jak2 Janus kinase 2 no_association ISO DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)
CTD Direct Evidence: marker/mechanism
DNA:mutation: :p.V617F (human)
DNA:SNP: :rs10974944 (human)
CTD
RGD
PMID:20434300 PMID:23845539 PMID:17059429 PMID:23845539 RGD:10449376, RGD:10449391, RGD:10449376 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Kdr kinase insert domain protein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26600200 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Klhl22 kelch-like 22 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,759,621...17,793,382
Ensembl chr16:17,759,618...17,793,382
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,651,208...17,722,947
Ensembl chr16:17,651,208...17,732,891
JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) IDA RGD PMID:16171603 RGD:1582570 NCBI chr14:54,431,598...54,442,456
Ensembl chr14:54,431,612...54,445,364
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:20515599 PMID:16171603 RGD:2325775, RGD:1582570 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:20515599 RGD:2325775 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO
IDA
mRNA:increased expression:femoral vein (rat) RGD PMID:20515599 PMID:16920980 RGD:2325775, RGD:1582648 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
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 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO associated with orthopedic surgery;DNA:SNP::rs1799983(human) RGD PMID:23922896 RGD:11533639 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.L125V (human) RGD PMID:25846278 RGD:11541089 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,280,351...17,406,314
Ensembl chr16:17,280,351...17,406,314
JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16767100 NCBI chr 1:172,376,531...172,384,099
Ensembl chr 1:172,376,546...172,384,099
JBrowse link
G Plat plasminogen activator, tissue 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 chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: therapeutic CTD PMID:7215189 NCBI chr17:12,378,609...12,419,384
Ensembl chr17:12,378,608...12,419,385
JBrowse link
G Proc protein C ISO
IMP
DNA:missense mutation:cds:p.Q184H (human)
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar Annotator: match by term: Deep vein thrombosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :c.565C>T (rs146922325) (human)
DNA:missense mutations: :p.D297H, p.V420L (human)
DNA:silent mutation, missense mutation:cds:g.66C>T, p.R147W (human)
ClinVar
CTD
RGD
PMID:1868249 PMID:8128429 PMID:8499565 PMID:12730085 PMID:17152060 More... RGD:1578515, RGD:11100014, RGD:11099990, RGD:11099989, RGD:11035247, RGD:1578391 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Pros1 protein S (alpha) ISO DNA:missense mutation:cds:p.G295V (human)
ClinVar Annotator: match by term: Deep vein thrombosis
ClinVar
RGD
PMID:7803790 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 More... RGD:9743896 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,239,979...18,248,694
Ensembl chr16:18,239,784...18,248,732
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,127,642...18,152,408
Ensembl chr16:18,127,642...18,152,408
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 chr16:17,797,282...17,808,294
Ensembl chr16:17,797,282...17,808,293
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,621,811...18,629,938
Ensembl chr16:18,620,502...18,629,954
JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thrombosis, susceptibility to
CTD
ClinVar
PMID:15461625 NCBI chr12:103,616,675...103,631,490
Ensembl chr12:103,614,786...103,631,444
JBrowse link
G Serpina5 serine (or cysteine) peptidase inhibitor, clade A, member 5 susceptibility ISO protein:increased expression:plasma (human) RGD PMID:12139754 RGD:1580299 NCBI chr12:104,099,313...104,106,138
Ensembl chr12:104,101,113...104,106,137
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 IMP
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple
ClinVar
CTD
RGD
PMID:55783 PMID:1469094 PMID:1483705 PMID:1555650 PMID:1977621 More... RGD:11035247, RGD:11035248 NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,331,371...17,343,574
Ensembl chr16:17,331,371...17,343,575
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO DNA:deletion:promoter:g.-676_-674delG (human)
mRNA:increased expression:femoral vein (rat)
RGD PMID:14653439 PMID:26535698 PMID:9535178 RGD:1580132, RGD:11060966, RGD:8547875 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,300,825...18,348,098
Ensembl chr16:18,300,825...18,348,103
JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,580,979...18,590,671
Ensembl chr16:18,580,979...18,590,671
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:7848332 RGD:11059887 NCBI chr10:81,328,268...81,335,174
Ensembl chr10:81,328,731...81,335,172
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO
IMP
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 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
JBrowse link
G Trmt2a TRM2 tRNA methyltransferase 2A ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,248,847...18,254,772
Ensembl chr16:18,248,679...18,254,772
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,426,417...18,479,073
Ensembl chr16:18,426,384...18,479,073
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:thrombus, vein RGD PMID:23199547 RGD:7207783 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Zdhhc8 zinc finger, DHHC domain containing 8 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,220,748...18,235,153
Ensembl chr16:18,220,753...18,235,136
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 alpha 2 no_association ISO DNA:snp:cds:g.807C>T (human) RGD PMID:16157382 RGD:1582301 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14614
    disease of anatomical entity 14222
      cardiovascular system disease 3711
        vascular disease 2711
          Embolism and Thrombosis 159
            Embolism + 35
            Thromboembolism + 42
            thrombosis + 140
paths to the root