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: thrombosis
Accession: DOID:0060903
browse the term
Definition: A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. (DO)
Synonyms: exact_synonym: Blood Clot; Blood Clots; Thromboses; Thrombus
primary_id: MESH:D013927
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Ace2
angiotensin converting enzyme 2
treatment
ISO
RGD
PMID:20111697
RGD:9685451
NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:11881036 PMID:21501650
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Apoh
apolipoprotein H
ISO
RGD
PMID:24642748
RGD:10054118
NCBI chr11:108,286,123...108,305,222
Ensembl chr11:108,234,180...108,305,222
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Bdkrb2
bradykinin receptor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16514058
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
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C5ar1
complement component 5a receptor 1
ISO
associated with Anti-Glomerular Basement Membrane Disease
RGD
PMID:11422211
RGD:1600652
NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465
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Cd2
CD2 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16932337
NCBI chr 3:101,183,224...101,195,255
Ensembl chr 3:101,183,215...101,195,255
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Cd40
CD40 antigen
IMP
RGD
PMID:21914625
RGD:5490522
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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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:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16931792
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20978260
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Cyp3a13
cytochrome P450, family 3, subfamily a, polypeptide 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16754899
NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14979412 PMID:25013951
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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F10
coagulation factor X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1279834
NCBI chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676
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F11
coagulation factor XI
susceptibility
ISO
DNA:SNPs:intron: rs2289252,rs2036914(human)
RGD
PMID:22633531 PMID:19583818
RGD:11041774 , RGD:11041778
NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068
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F12
coagulation factor XII (Hageman factor)
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606
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F13b
coagulation factor XIII, beta subunit
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr 1:139,429,285...139,451,496
Ensembl chr 1:139,429,440...139,451,490
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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 PMID:17293494 PMID:15039280 PMID:12632020 PMID:22402172 PMID:21605330 More...
RGD:6893603 , RGD:11035267 , RGD:10449423 , RGD:7394765 , RGD:7387314 , RGD:7387259
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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F2r
coagulation factor II thrombin receptor
TAS
RGD
PMID:14529396
RGD:1581036
NCBI chr13:95,738,288...95,754,974
Ensembl chr13:95,738,311...95,754,995
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F3
coagulation factor III, tissue factor
ISO
associated with Antiphospholipid Syndrome CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11858183 PMID:25339356 PMID:9153543
RGD:11340222
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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F5
coagulation factor V
ISO IMP
associated with kidney failure, chronic;DNA:mutation: :1691G>A(human) ClinVar Annotator: match by term: Thrombus CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9164807 PMID:11132655 PMID:25741868 PMID:16549134 PMID:11110695
RGD:6893627 , RGD:11564340
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
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F9
coagulation factor IX
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombus
CTD ClinVar
PMID:1279834 PMID:7937052 PMID:19846852 PMID:25741868
NCBI chr X:59,044,675...59,076,120
Ensembl chr X:59,044,824...59,076,119
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Fcgr3
Fc receptor, IgG, low affinity III
ISO
RGD
PMID:18983497
RGD:11040996
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Fga
fibrinogen alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8473507
NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
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Fgb
fibrinogen beta chain
susceptibility
ISO
associated with Lupus Nephritis;;DNA:polymorphism: :-455G>A (human) ClinVar Annotator: match by term: Thrombus
ClinVar RGD
PMID:10688828 PMID:19420351 PMID:20978265 PMID:24033266 PMID:25741868 PMID:26105150 PMID:26561523 PMID:28492532 PMID:31064749 PMID:32935436 PMID:33477601 PMID:17469143 More...
RGD:7175506
NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170
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Fgg
fibrinogen gamma chain
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:21228398 PMID:24033266 PMID:25039884 PMID:25741868 PMID:26105150 PMID:28211264 PMID:28492532 PMID:29240685 PMID:30349899 PMID:30431218 PMID:30487145 PMID:30632992 PMID:31064749 PMID:31295712 PMID:31352677 PMID:31479941 PMID:32852326 PMID:33477601 PMID:35809055 PMID:35975558 PMID:37583269 More...
NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356
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Flt3
FMS-like tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16932337
NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299
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Fut4
fucosyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16932337
NCBI chr 9:14,659,755...14,663,418
Ensembl chr 9:14,659,616...14,663,689
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Gas6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11175853 PMID:15130911 PMID:15733062 PMID:16564713
NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490
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Gp1ba
glycoprotein 1b, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334511
NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862
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Gucy1a1
guanylate cyclase 1, soluble, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24213632
NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15367830
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Hmox1
heme oxygenase 1
IDA ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:19168058 PMID:15242554
RGD:1598405
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hrg
histidine-rich glycoprotein
ISO
DNA, protein:missense mutation, decreased expression:exon, plasma:p.G85E (429G>A) (human) ClinVar Annotator: match by term: Thrombus
ClinVar RGD
PMID:25741868 PMID:34355501 PMID:9414276
RGD:1599656
NCBI chr16:22,769,822...22,780,409
Ensembl chr16:22,769,822...22,780,406
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Il10
interleukin 10
IAGP
RGD
PMID:12765335
RGD:1598469
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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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 chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636
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Itgam
integrin alpha M
ISO
associated with atrial fibrillation;protein:increased expression:monocyte, granulocyte (human)
RGD
PMID:26411420
RGD:329901838
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Jak2
Janus kinase 2
IAGP
associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human)
RGD
PMID:22467227
RGD:15039391
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
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Klf4
Kruppel-like transcription factor 4 (gut)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25339356
NCBI chr 4:55,527,137...55,536,984
Ensembl chr 4:55,527,143...55,532,466
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Klkb1
kallikrein B, plasma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25339356
NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896
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Kng1
kininogen 1
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828
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Lrp8
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
IMP
associated with Antiphospholipid Syndrome
RGD
PMID:21119114
RGD:6483062
NCBI chr 4:107,659,337...107,734,037
Ensembl chr 4:107,659,066...107,734,037
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Mas1
MAS1 oncogene
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25339356
NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030
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Mertk
MER proto-oncogene tyrosine kinase
IAGP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15130911 PMID:15130911
RGD:1582496
NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814
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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...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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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
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Mmp3
matrix metallopeptidase 3
ISO
associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1612insA (rs35068180) (human)
RGD
PMID:20616161
RGD:7207048
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp9
matrix metallopeptidase 9
ISO
associated with Arteriovenous Fistula;DNA:snp:promoter:g.-1562C>A (rs34016235) (human)
RGD
PMID:20616161
RGD:7207048
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNP: :677C>T (human)
RGD
PMID:10780318
RGD:10449414
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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P2ry1
purinergic receptor P2Y, G-protein coupled 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334511
NCBI chr 3:60,910,206...60,916,403
Ensembl chr 3:60,910,216...60,916,403
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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 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292
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Pde3a
phosphodiesterase 3A, cGMP inhibited
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17482796
NCBI chr 6:141,194,995...141,452,588
Ensembl chr 6:141,194,995...141,453,174
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Pf4
platelet factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8282825 PMID:9446652 PMID:11588041 PMID:15795722
NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
ISO
RGD
PMID:15834429
RGD:1580861
NCBI chr 9:98,920,455...99,022,264
Ensembl chr 9:98,918,707...99,022,674
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:2123154 PMID:12677255 PMID:19348381 PMID:22352330
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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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 PMID:12830724 PMID:20016209 More...
RGD:2325698
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Plg
plasminogen
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868 PMID:28492532 PMID:34355501
NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272
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Podxl
podocalyxin-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22016802
NCBI chr 6:31,496,428...31,540,872
Ensembl chr 6:31,496,423...31,540,916
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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 chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
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Pros1
protein S (alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10706858 PMID:11132655
NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
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Ptger3
prostaglandin E receptor 3 (subtype EP3)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17242161
NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20350286
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Selp
selectin, platelet
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10544909
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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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 PMID:17293494 More...
RGD:1580119 , RGD:11035267
NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
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Serpind1
serine (or cysteine) peptidase inhibitor, clade D, member 1
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
susceptibility no_association
ISO
associated with Lupus Nephritis;;DNA:insertion/deletion: : ClinVar Annotator: match by term: Thrombus 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)
ClinVar CTD RGD
PMID:12677255 PMID:22352330 PMID:25741868 PMID:17469143 PMID:12632020 PMID:7495343 More...
RGD:7175506 , RGD:7394765 , RGD:8547802
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25339356
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Spta1
spectrin alpha, erythrocytic 1
IMP
RGD
PMID:9845553
RGD:11059524
NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016
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Tbxas1
thromboxane A synthase 1, platelet
ISO
RGD
PMID:12384182
RGD:1601457
NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519
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Thbd
thrombomodulin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombus
CTD ClinVar
PMID:11132655 PMID:11518727 PMID:25741868
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19691487
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tyro3
TYRO3 protein tyrosine kinase 3
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15733062 PMID:15733062
RGD:1580531
NCBI chr 2:119,628,123...119,648,585
Ensembl chr 2:119,628,214...119,648,585
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Vkorc1
vitamin K epoxide reductase complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombus
CTD ClinVar
PMID:15883587 PMID:15888487 PMID:15930419 PMID:15947090 PMID:16580898 PMID:16611310 PMID:16890578 PMID:17049586 PMID:17110455 PMID:17510308 PMID:18030307 PMID:18252229 PMID:18305455 PMID:18322281 PMID:18535201 PMID:18542936 PMID:18574025 PMID:18629445 PMID:18690342 PMID:18855533 PMID:18950464 PMID:19018719 PMID:19135231 PMID:19228618 PMID:19277427 PMID:19300499 PMID:19387626 PMID:19582440 PMID:19679631 PMID:19745563 PMID:19794411 PMID:19874474 PMID:19875892 PMID:20072124 PMID:20128861 PMID:20203262 PMID:20339978 PMID:20375999 PMID:20376629 PMID:20386359 PMID:20421126 PMID:20555338 PMID:20615525 PMID:20653676 PMID:20833655 PMID:20833980 PMID:21057703 PMID:21110013 PMID:21110192 PMID:21148049 PMID:21174619 PMID:21176721 PMID:21185752 PMID:21228733 PMID:21318593 PMID:21320153 PMID:21636598 PMID:21747589 PMID:22010099 PMID:22040439 PMID:22130800 PMID:22158446 PMID:22266406 PMID:22274142 PMID:22349464 PMID:22486182 PMID:22528326 PMID:22571356 PMID:22592842 PMID:22629463 PMID:22676192 PMID:22854539 PMID:22871975 PMID:22911785 PMID:22990331 PMID:22992668 PMID:23016521 PMID:23061746 PMID:23104259 PMID:23159639 PMID:23279643 PMID:23299853 PMID:23423913 PMID:23473641 PMID:23481074 PMID:23571513 PMID:23602689 PMID:23651023 PMID:23774101 PMID:23774941 PMID:23932037 PMID:23949431 PMID:23990957 PMID:24019055 PMID:24029542 PMID:24108193 PMID:24224579 PMID:24330000 PMID:24474498 PMID:24601977 PMID:24919870 PMID:24956252 PMID:25001883 PMID:25042728 PMID:25084205 PMID:25089947 PMID:25244877 PMID:25312789 PMID:25519826 PMID:25521356 PMID:25594941 PMID:25741868 PMID:25769357 PMID:26024874 PMID:26219158 PMID:26433837 PMID:26445138 PMID:26739746 PMID:26745506 PMID:26777610 PMID:26984978 PMID:27262824 PMID:27335128 PMID:27488176 PMID:27511999 PMID:27581200 PMID:27617219 PMID:27703968 PMID:28033245 PMID:28049362 PMID:28382498 PMID:28429387 PMID:28492532 PMID:28550460 PMID:28689179 PMID:29396738 PMID:29432897 PMID:29568565 PMID:29577257 PMID:29581108 PMID:29781049 PMID:31114289 PMID:31395958 PMID:31720756 PMID:31902949 More...
NCBI chr 7:127,492,235...127,494,833
Ensembl chr 7:127,485,399...127,494,626 Ensembl chr 7:127,485,399...127,494,626
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Vtn
vitronectin
ISO
RGD
PMID:15069014
RGD:1580815
NCBI chr11:78,389,946...78,393,151
Ensembl chr11:78,389,917...78,393,150
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Vwf
Von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombus
CTD ClinVar
PMID:3875694 PMID:12649144 PMID:14525793 PMID:15755288 PMID:15842375 PMID:16985174 PMID:17080221 PMID:17119126 PMID:17190853 PMID:18162126 PMID:18510569 PMID:19372260 PMID:19506354 PMID:20409624 PMID:20682599 PMID:21346256 PMID:22197721 PMID:22352330 PMID:22389132 PMID:23355534 PMID:23426949 PMID:24928861 PMID:25103891 PMID:25741868 PMID:25780857 PMID:26467025 PMID:26988807 PMID:27380589 PMID:27596108 PMID:28091443 PMID:28971901 PMID:29427305 PMID:29924855 PMID:30722078 PMID:30817071 PMID:31887760 PMID:31968368 PMID:32108991 PMID:32609846 PMID:33113216 PMID:33477601 PMID:33536631 PMID:33807613 PMID:34355501 PMID:34596727 PMID:34708896 PMID:34828413 PMID:35197637 PMID:35552711 More...
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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F7
coagulation factor VII
treatment
ISO
human protein in a rat model
RGD
PMID:12714830 PMID:11167855
RGD:11041657 , RGD:11049507
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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Flna
filamin, alpha
ISO
ClinVar Annotator: match by term: Arterial thrombosis
ClinVar
PMID:25741868
NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426
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Gp6
glycoprotein 6 platelet
ameliorates treatment
IMP ISO
RGD
PMID:25051961 PMID:17322098 PMID:16254207 PMID:23448972 PMID:15507524
RGD:401794404 , RGD:401824682 , RGD:401824681 , RGD:401824648 , RGD:401824646
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
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Gsn
gelsolin
ameliorates
ISO
human gene in mouse model
RGD
PMID:31002695
RGD:329333020
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
protein:increased expression:plantar, foot muscle (rat)
RGD
PMID:22351094
RGD:8695963
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Il17a
interleukin 17A
IDA
mouse protein in a rat model
RGD
PMID:24940514
RGD:9068933
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Mbl2
mannose-binding lectin (protein C) 2
treatment
ISO
RGD
PMID:25482922
RGD:11530049
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Plat
plasminogen activator, tissue
treatment
ISO
associated with Antiphospholipid Syndrome
RGD
PMID:14630788 PMID:24806322
RGD:11541057 , RGD:11541078
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
ISO
protein:increased expression:plasma (rat)
RGD
PMID:26857113
RGD:11073687
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
ISO
human protein in a rat model
RGD
PMID:17850801
RGD:8655540
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Xdh
xanthine dehydrogenase
treatment
ISO
RGD
PMID:26374946
RGD:13208952
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Apoa1
apolipoprotein A-I
ISO
protein: decreased expression: plasma (human)
RGD
PMID:21145806
RGD:25671435
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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F5
coagulation factor V
severity disease_progression susceptibility
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:R506Q (human) associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
OMIM ClinVar CTD RGD
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9518910 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:11018168 PMID:11110695 PMID:11686338 PMID:11950065 PMID:12069454 PMID:12070000 PMID:12421138 PMID:12816860 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15946211 PMID:16199547 PMID:16246256 PMID:16493002 PMID:16769590 PMID:16931580 PMID:19486170 PMID:19652888 PMID:20051284 PMID:21116184 PMID:21774968 PMID:22704462 PMID:22992668 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 PMID:27797270 PMID:28492532 PMID:28750087 PMID:30924984 PMID:31064749 PMID:31399523 PMID:34355501 PMID:29771426 PMID:26238013 PMID:9245936 PMID:16825912 More...
RGD:14700660 , RGD:11537993 , RGD:15036813 , RGD:14700661
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
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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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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F3
coagulation factor III, tissue factor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:17969370
RGD:2313859
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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Gp1bb
glycoprotein Ib, beta polypeptide
IMP
RGD
PMID:17095718
RGD:11040529
NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153
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Hmox1
heme oxygenase 1
treatment
IMP
associated with Anemia, Sickle Cell
RGD
PMID:23590132
RGD:10755698
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Itga2b
integrin alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1605806
NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948
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Itgb3
integrin beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1605806
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Klkb1
kallikrein B, plasma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25339356
NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896
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Serpind1
serine (or cysteine) peptidase inhibitor, clade D, member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11805133
NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439
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Stxbp2
syntaxin binding protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30696774
NCBI chr 8:3,680,960...3,693,998
Ensembl chr 8:3,680,955...3,693,644
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Thbd
thrombomodulin
ISO
RGD
PMID:21885846
RGD:5684980
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:28572286
RGD:15090824
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Proc
protein C
treatment
ISO
RGD
PMID:20688738
RGD:11100028
NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
ISO
protein:increased expression:neuroretina (rat)
RGD
PMID:21487926
RGD:5490120
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
ISO
ClinVar Annotator: match by term: Cerebral venous thrombosis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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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 chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Gp6
glycoprotein 6 platelet
ISO
DNA:missense mutation:CDS:c.13254T>C (human)
RGD
PMID:15306180
RGD:401793750
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
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Itgb3
integrin beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8598867
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1452937 PMID:8172379 PMID:15301905
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: SERPIND1-related condition | ClinVar Annotator: match by term: Thrombotic stroke
ClinVar
PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 More...
NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178
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Serpind1
serine (or cysteine) peptidase inhibitor, clade D, member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: SERPIND1-related condition | ClinVar Annotator: match by term: Thrombotic stroke
OMIM CTD ClinVar
PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 More...
NCBI chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439
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F2
coagulation factor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12269725
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Gpx3
glutathione peroxidase 3
no_association
ISO
DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human)
RGD
PMID:20946167
RGD:401827165
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18941937
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8678742
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Serpinc1
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6636041
NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
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Vwf
Von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3111251
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Ccl2
C-C motif chemokine ligand 2
ISO
associated with Behcet Syndrome;protein:increased expression:serum (human)
RGD
PMID:16273763
RGD:8548850
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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F2
coagulation factor II
severity
ISO
associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD
PMID:28465646
RGD:14985237
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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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 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP: :677C>T(human)
RGD
PMID:27221722 PMID:25987440
RGD:14696705 , RGD:14696749
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:25987440
RGD:14696749
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Aqp1
aquaporin 1
ISO
RGD
PMID:21487926
RGD:5490120
NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540
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Aqp4
aquaporin 4
ISO
mRNA:decreased expression:retina
RGD
PMID:21487926
RGD:5490120
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Crp
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum:
RGD
PMID:6720266
RGD:9491754
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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F2
coagulation factor II
no_association
ISO
DNA:SNP: :20210G>A (human)
RGD
PMID:22800650 PMID:14994919
RGD:7387258 , RGD:7394774
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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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 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:10342378
RGD:8655593
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Il1b
interleukin 1 beta
ISO
mRNA:increased expression:neuroretina, retinal pigment epithelium (rat)
RGD
PMID:21487926
RGD:5490120
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il6
interleukin 6
ISO
RGD
PMID:21487926
RGD:5490120
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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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 chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
RGD
PMID:21487926
RGD:5490120
NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
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Mmp2
matrix metallopeptidase 2
ISO
DNA:SNP:promoter:-1306C>T (rs243865) (human)
RGD
PMID:23791966
RGD:8657048
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Nrp1
neuropilin 1
IAGP
MouseDO
NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844
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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 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
G
Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
ISO
protein:decreased expression:vitreous humor (human)
RGD
PMID:21275514
RGD:8554901
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16680105 PMID:21487926
RGD:5490120
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
G
Vegfb
vascular endothelial growth factor B
ISO
RGD
PMID:21487926
RGD:5490120
NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019
G
F5
coagulation factor V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18382986
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10668740
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
G
Pros1
protein S (alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18382986
NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
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 chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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 chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
G
Mir223
microRNA 223
ISO
RGD
PMID:32141571
RGD:26884338
NCBI chr X:95,286,423...95,286,532
Ensembl chr X:95,286,423...95,286,532
G
Pros1
protein S (alpha)
ISO
RGD
PMID:12907438
RGD:1578677
NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif 13
treatment
ISO
RGD
PMID:21095090
RGD:10449099
NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640
G
Apoe
apolipoprotein E
IMP
RGD
PMID:22119245
RGD:6903200
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
G
Arvcf
armadillo repeat gene deleted in velocardiofacial syndrome
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826
G
Ccl2
C-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:vein
RGD
PMID:18167211
RGD:2307053
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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 chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
G
Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8120554
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
G
Cxcl5
C-X-C motif chemokine ligand 5
ISO
RGD
PMID:7749835
RGD:5135275
NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
G
Dgcr8
DGCR8, microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,071,812...18,107,115
Ensembl chr16:18,071,812...18,107,110
G
Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12670338 PMID:17547733
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
G
F11
coagulation factor XI
susceptibility
ISO
protein:increased activity:blood:
RGD
PMID:10706899
RGD:11041768
NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068
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 chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606
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 chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
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 1:139,429,285...139,451,496
Ensembl chr 1:139,429,440...139,451,490
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 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
G
F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14967414
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
G
F5
coagulation factor V
ISO
DNA:missense mutation:cds:p.R506Q (human) ClinVar Annotator: match by term: Deep venous thrombosis CTD Direct Evidence: marker/mechanism DNA:mutation: :1691G>A (human) associated with Behcet Syndrome;DNA:SNP: :1691G>A (human) associated with lupus erythematosus, systemic; DNA:polymorphism:cds:rs6025(human)
ClinVar CTD RGD
PMID:12296757 PMID:12827938 PMID:12865888 PMID:15033664 PMID:16875063 PMID:19486170 PMID:25741868 PMID:31064749 PMID:9293873 PMID:9836759 PMID:8948311 PMID:22707612 More...
RGD:6893601 , RGD:7394779 , RGD:7394762 , RGD:6893602
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
G
F7
coagulation factor VII
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14967414 PMID:16378835
RGD:11041650
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
G
F8
coagulation factor VIII
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16875063 PMID:15634269
RGD:1582359
NCBI chr X:74,213,950...74,426,342
Ensembl chr X:74,216,321...74,426,221
G
Fga
fibrinogen alpha chain
ISO
DNA:SNP: :rs6050 (human) ClinVar Annotator: match by term: Deep vein thrombosis protein:increased expression:peripheral blood (rat)
ClinVar RGD
PMID:8473507 PMID:8636415 PMID:25741868 PMID:34355501 PMID:22353194 PMID:23199547 More...
RGD:5688756 , RGD:7207783
NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
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 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170
G
Gm14305
predicted gene 14305
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr 2:176,400,146...176,413,606
Ensembl chr 2:176,400,121...176,413,606
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 chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429
G
Gp1bb
glycoprotein Ib, beta polypeptide
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153
G
Gp6
glycoprotein 6 platelet
treatment
ISO IMP
protein:increased expression:plasma (human)
RGD
PMID:25253166 PMID:16254207
RGD:401794452 , RGD:401824681
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
G
Gpx1
glutathione peroxidase 1
IMP
RGD
PMID:23426106
RGD:11352755
NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
G
Habp2
hyaluronic acid binding protein 2
ISO
DNA:SNP: :p.G534E (rs7080536) (human)
RGD
PMID:22421107
RGD:11353820
NCBI chr19:56,275,541...56,309,252
Ensembl chr19:56,275,569...56,309,254
G
Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36162953
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
G
Hp
haptoglobin
ISO
associated with Pulmonary Embolism;protein:increased expression:serum
RGD
PMID:17203959
RGD:1626365
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
G
Il10
interleukin 10
susceptibility
ISO
RGD
PMID:16807647
RGD:1598472
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:22318348
RGD:8655957
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:17651586
RGD:2311092
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:17651586
RGD:2311092
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:haplotype::rs2232354(human)
RGD
PMID:17413037
RGD:11528540
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
Itga2
integrin alpha 2
no_association
ISO
RGD
PMID:16380674
RGD:1582295
NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636
G
Itgb3
integrin beta 3
susceptibility
ISO
associated with Behcet Syndrome; DNA:polymorphism: :
RGD
PMID:21813062
RGD:8693342
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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 chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
G
Kdr
kinase insert domain protein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26600200
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
G
Klhl22
kelch-like 22
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:17,577,485...17,611,246
Ensembl chr16:17,577,482...17,611,246
G
Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:17,469,072...17,540,811
Ensembl chr16:17,469,072...17,550,755
G
Mmp14
matrix metallopeptidase 14 (membrane-inserted)
IDA
RGD
PMID:16171603
RGD:1582570
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
G
Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:20515599 PMID:16171603
RGD:2325775 , RGD:1582570
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
G
Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:20515599
RGD:2325775
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
G
Mmp9
matrix metallopeptidase 9
ISO IDA
mRNA:increased expression:femoral vein (rat)
RGD
PMID:20515599 PMID:16920980
RGD:2325775 , RGD:1582648
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
G
Pecam1
platelet/endothelial cell adhesion molecule 1
susceptibility
ISO
DNA:missense mutation:cds:p.L125V (human)
RGD
PMID:25846278
RGD:11541089
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
G
Pf4
platelet factor 4
ISO
associated with Wounds and Injuries;mRNA:increased expression:blood
RGD
PMID:32347511
RGD:329901817
NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178
G
Pigm
phosphatidylinositol glycan anchor biosynthesis, class M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16767100
NCBI chr 1:172,204,098...172,211,666
Ensembl chr 1:172,204,113...172,211,666
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 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
G
Plg
plasminogen
ISO
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis
CTD ClinVar
PMID:7215189 PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 PMID:16849641 PMID:20981092 PMID:22995991 PMID:23629776 PMID:25741868 PMID:26340456 PMID:27976734 PMID:28492532 PMID:30487145 PMID:31064749 PMID:31589614 PMID:31980526 PMID:34355501 More...
NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272
G
Ppbp
pro-platelet basic protein
ameliorates
ISO IMP
associated with Wounds and Injuries;mRNA:increased expression:blood
RGD
PMID:32347511 PMID:23550035
RGD:329901817 , RGD:401794958
NCBI chr 5:90,916,377...90,917,922
Ensembl chr 5:90,916,377...90,917,922
G
Proc
protein C
ISO IMP
DNA:missense mutation:cds:p.Q184H (human) ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous 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:7482420 PMID:8128429 PMID:8499565 PMID:8845458 PMID:8972002 PMID:12730085 PMID:17152060 PMID:24162787 PMID:25741868 PMID:25748729 PMID:28492532 PMID:31064749 PMID:31254973 PMID:32078247 PMID:32717757 PMID:34355501 PMID:35112923 PMID:35626216 PMID:8400292 PMID:10936861 PMID:22545135 PMID:25748729 PMID:23550037 PMID:15114590 More...
RGD:1578515 , RGD:11100014 , RGD:11099990 , RGD:11099989 , RGD:11035247 , RGD:1578391
NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
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 PMID:28492532 PMID:31064749 PMID:31335064 PMID:32964666 PMID:34729451 PMID:9424998 More...
RGD:9743896
NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
G
Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,057,843...18,066,558
Ensembl chr16:18,057,648...18,066,596
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:17,945,506...17,970,272
Ensembl chr16:17,945,506...17,970,272
G
Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:17,615,146...17,626,158
Ensembl chr16:17,615,146...17,626,157
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704
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 PMID:25741868
NCBI chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703
G
Serpina5
serine (or cysteine) peptidase inhibitor, clade A, member 5
susceptibility
ISO
protein:increased expression:plasma (human)
RGD
PMID:12139754
RGD:1580299
NCBI chr12:104,065,572...104,072,397
Ensembl chr12:104,067,372...104,072,396
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:1483705 PMID:1555650 PMID:1977621 PMID:2336381 PMID:3472589 PMID:6435583 PMID:8401542 PMID:8810955 PMID:22498748 PMID:23910795 PMID:24072242 PMID:24158114 PMID:25741868 PMID:26748602 PMID:27098529 PMID:28492532 PMID:28607330 PMID:29215785 PMID:30975910 PMID:31064749 PMID:36624481 PMID:23550037 PMID:23932013 More...
RGD:11035247 , RGD:11035248
NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433
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 chr16:17,149,235...17,161,438
Ensembl chr16:17,149,235...17,161,439
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 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
G
Tango2
transport and golgi organization 2
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967
G
Tbx1
T-box 1
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
G
Tbxa2r
thromboxane A2 receptor
treatment
ISO
RGD
PMID:7848332
RGD:11059887
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119
G
Trmt2a
TRM2 tRNA methyltransferase 2A
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,066,747...18,072,636
Ensembl chr16:18,066,543...18,072,636
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823
G
Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:thrombus, vein
RGD
PMID:23199547
RGD:7207783
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
G
Zdhhc8
zinc finger, DHHC domain containing 8
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr16:18,038,612...18,056,471
Ensembl chr16:18,038,617...18,053,000
G
Itga2
integrin alpha 2
no_association
ISO
DNA:snp:cds:g.807C>T (human)
RGD
PMID:16157382
RGD:1582301
NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636
G
Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
ISO
protein:decreased expression:vitreous humor (human)
RGD
PMID:20714746
RGD:8554903
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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