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
Accession: DOID:9001268
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
For additional species annotation, visit the
Alliance of Genome Resources .
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:16038715
RGD:11340219
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9684808
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Tfpi
tissue factor pathway inhibitor
ISO
RGD
PMID:15467899
RGD:11341677
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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F7
coagulation factor VII
treatment
IMP ISO
human protein in a rat model
RGD
PMID:12714830 PMID:11167855
RGD:11041657 , RGD:11049507
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Arterial thrombosis
ClinVar
PMID:25741868
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
protein:increased expression:plantar, foot muscle (rat)
RGD
PMID:22351094
RGD:8695963
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Il17a
interleukin 17A
ISO
mouse protein in a rat model
RGD
PMID:24940514
RGD:9068933
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:25482922
RGD:11530049
NCBI chr 1:228,016,439...228,024,736
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Plat
plasminogen activator, tissue type
treatment
ISO
associated with Antiphospholipid Syndrome
RGD
PMID:14630788 PMID:24806322
RGD:11541057 , RGD:11541078
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Serpine1
serpin family E member 1
IEP
protein:increased expression:plasma (rat)
RGD
PMID:26857113
RGD:11073687
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
treatment
ISO
human protein in a rat model
RGD
PMID:17850801
RGD:8655540
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Xdh
xanthine dehydrogenase
treatment
IMP
RGD
PMID:26374946
RGD:13208952
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Apoa1
apolipoprotein A1
ISO
protein: decreased expression: plasma (human)
RGD
PMID:21145806
RGD:25671435
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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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)
OMIM ClinVar RGD
PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 PMID:26238013 PMID:9245936 PMID:16825912 PMID:29771426 More...
RGD:11537993 , RGD:15036813 , RGD:14700661 , RGD:14700660
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome
ClinVar
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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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:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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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 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
RGD
PMID:17095718
RGD:11040529
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Hmox1
heme oxygenase 1
treatment
ISO
associated with Anemia, Sickle Cell
RGD
PMID:23590132
RGD:10755698
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Itga2b
integrin subunit alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1605806
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1605806
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Klkb1
kallikrein B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25339356
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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Serpind1
serpin family D member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11805133
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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Stxbp2
syntaxin binding protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30696774
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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Thbd
thrombomodulin
ISO
RGD
PMID:21885846
RGD:5684980
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:28572286
RGD:15090824
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:20688738
RGD:11100028
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Serpinf1
serpin family F member 1
IEP
protein:increased expression:neuroretina (rat)
RGD
PMID:21487926
RGD:5490120
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7939511
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16773802
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8598867
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1452937 PMID:8172379 PMID:15301905
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Gp1ba
glycoprotein Ib platelet subunit alpha
susceptibility
ISO
associated with infective endocarditis;DNA:repeat:CDS:(human)
RGD
PMID:23611001
RGD:42722623
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Mmp14
matrix metallopeptidase 14
ISO
RGD
PMID:15920147
RGD:1582578
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:15920147
RGD:1582578
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16720380
RGD:1582655
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16148626
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
F7
coagulation factor VII
IEP
mRNA:altered expression:liver (rat)
RGD
PMID:17660074
RGD:2312312
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
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 PMID:28492532 PMID:31064749 PMID:34355501 More...
NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke
OMIM ClinVar
PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 More...
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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Kl
Klotho
susceptibility
ISO
DNA:polymorphism:promoter:-395G>A(human)
RGD
PMID:16973281
RGD:10403059
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7482654 PMID:8427107
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9403446
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
F2
coagulation factor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12269725
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18941937
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8678742
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Serpinc1
serpin family C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6636041
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Vwf
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3111251
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Igf1r
insulin-like growth factor 1 receptor
susceptibility
ISO
associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human)
RGD
PMID:24758241
RGD:14985227
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:25987440
RGD:14696749
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2510358
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
IEP
mRNA:increased expression:heart right ventricle (rat)
RGD
PMID:16814320
RGD:11528528
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn2
cellular communication network factor 2
IEP
mRNA:increased expression:right ventricle (rat)
RGD
PMID:19602618
RGD:2314488
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cx3cl1
C-X3-C motif chemokine ligand 1
treatment
IEP
RGD
PMID:23578461
RGD:9491777
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
treatment
IEP
RGD
PMID:23578461
RGD:9491777
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Dab2ip
DAB2 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20622881
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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Edn1
endothelin 1
severity
IEP
protein:increased secretion:plasma (rat)
RGD
PMID:20559433
RGD:4144858
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12670338
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F13a1
coagulation factor XIII A1 chain
ISO
RGD
PMID:12958612
RGD:1581021
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F5
coagulation factor V
ISO
RGD
PMID:14996674
RGD:4892657
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fga
fibrinogen alpha chain
IEP ISO
protein:increased expression:blood microparticle CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10910940 PMID:22014850
RGD:5688769
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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Fgb
fibrinogen beta chain
IEP
protein:increased expression:blood microparticle
RGD
PMID:22014850
RGD:5688769
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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Fgg
fibrinogen gamma chain
IEP
protein:increased expression:blood microparticle
RGD
PMID:22014850
RGD:5688769
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Hp
haptoglobin
IEP ISO
mRNA, protein:increased expression:lung, liver, serum protein:decreased expression:blood microparticle
RGD
PMID:17203959 PMID:19943874 PMID:19566548 PMID:22014850
RGD:1626365 , RGD:5147419 , RGD:5147425 , RGD:5688769
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Klkb1
kallikrein B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25339356
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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Mertk
MER proto-oncogene, tyrosine kinase
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:19028587 PMID:15130911
RGD:1582496
NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554
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Mmp2
matrix metallopeptidase 2
IDA
RGD
PMID:16304337
RGD:1582630
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
IDA
RGD
PMID:16304337
RGD:1582630
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19123085
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nos3
nitric oxide synthase 3
IEP
mRNA, protein:increased expression:lung
RGD
PMID:17219957
RGD:2292151
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nppb
natriuretic peptide B
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:23562569
RGD:7247621
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:1899825 PMID:2123154 PMID:3105914 PMID:3122266 PMID:8082347 PMID:8451030 PMID:9199818 PMID:9266785 PMID:19415734 More...
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:1098216 PMID:4430106 PMID:4884574 PMID:9038699 PMID:9266785 PMID:11041470 More...
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
RGD
PMID:10936861
RGD:11100014
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Pros1
protein S
ISO
RGD
PMID:12907438
RGD:1578677
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Serpinf2
serpin family F member 2
severity
ISO
RGD
PMID:12911586
RGD:1580302
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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Tbxa2r
thromboxane A2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7740511
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Tbxas1
thromboxane A synthase 1
IDA
RGD
PMID:12639842
RGD:1601456
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
G
Thbd
thrombomodulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7811989
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Vcam1
vascular cell adhesion molecule 1
IEP
protein:increased expression:lung
RGD
PMID:19915157
RGD:7240517
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Xdh
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2510358
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Aqp1
aquaporin 1
IEP
RGD
PMID:21487926
RGD:5490120
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
G
Aqp4
aquaporin 4
IEP
mRNA:decreased expression:retina
RGD
PMID:21487926
RGD:5490120
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Crp
C-reactive protein
ISO
protein:increased expression:serum:
RGD
PMID:6720266
RGD:9491754
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F5
coagulation factor V
onset no_association
ISO
associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:1691G>A (human) DNA:SNP:cds:1691G>A (human)
CTD RGD
PMID:12022286 PMID:10511031 PMID:16113792 PMID:10634550
RGD:7394767 , RGD:7394778 , RGD:7394773
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:10342378
RGD:8655593
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Il1b
interleukin 1 beta
IEP
mRNA:increased expression:neuroretina, retinal pigment epithelium (rat)
RGD
PMID:21487926
RGD:5490120
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il6
interleukin 6
IEP
RGD
PMID:21487926
RGD:5490120
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Itga2
integrin subunit alpha 2
susceptibility
ISO
DNA:snp, haplotype:cds:g.807C>T (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12928694 PMID:12928694
RGD:8686430
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
IEP
RGD
PMID:21487926
RGD:5490120
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
G
Mmp2
matrix metallopeptidase 2
ISO
DNA:SNP:promoter:-1306C>T (rs243865) (human)
RGD
PMID:23791966
RGD:8657048
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:SNP: :677C>T(human) DNA:missense mutation:cds:677C>T (human) DNA:SNP: :1298A>C(human)
RGD
PMID:10485556 PMID:24250697 PMID:23289804
RGD:7387256 , RGD:10449421 , RGD:10449405
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Nrp1
neuropilin 1
ISS
MouseDO
NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633
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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 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:deletion:promoter:g.-676_-674delG (human) protein:increased activity:plasma (human)
RGD
PMID:16244763 PMID:15213845
RGD:8547742 , RGD:8547805
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Serpinf1
serpin family F member 1
ISO
protein:decreased expression:vitreous humor (human)
RGD
PMID:21275514
RGD:8554901
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Vegfa
vascular endothelial growth factor A
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16680105 PMID:21487926
RGD:5490120
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vegfb
vascular endothelial growth factor B
IEP
RGD
PMID:21487926
RGD:5490120
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
G
F5
coagulation factor V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18382986
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10668740
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18382986
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9536098 PMID:11799392 PMID:15523612 PMID:15880370 PMID:15884045 PMID:16199547 PMID:16237566 PMID:16840568 PMID:17089404 PMID:17576681 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23671665 PMID:24589093 PMID:25640679 PMID:25741868 PMID:25943327 PMID:26089390 PMID:26195148 PMID:26499378 PMID:27577878 PMID:28492532 PMID:28796785 PMID:29127259 PMID:30026777 PMID:30784191 PMID:31039288 PMID:32499645 PMID:33532864 PMID:11799392 More...
RGD:1599053
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:14739223
RGD:1598476
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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F12
coagulation factor XII
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16009717 PMID:16009717 PMID:16009717
RGD:11041771 , RGD:11041771
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:24402608
RGD:11341738
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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:34355501 PMID:11471205 PMID:21955693 More...
RGD:1580340 , RGD:6893596
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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F7
coagulation factor VII
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20172985
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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F8
coagulation factor VIII
ISO
RGD
PMID:15634269
RGD:1582359
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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Fgg
fibrinogen gamma chain
ISO
ClinVar Annotator: match by term: Thromboembolism
ClinVar
PMID:25741868 PMID:31064749
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Gas6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16564713
NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
RGD
PMID:17095718
RGD:11040529
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Jak2
Janus kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19636672
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Mertk
MER proto-oncogene, tyrosine kinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17047157
NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554
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Nos3
nitric oxide synthase 3
susceptibility
ISO
DNA:repeats:intron
RGD
PMID:10531147
RGD:5128481
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8451030
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3718210
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
ClinVar Annotator: match by term: Thromboembolism CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1868249 PMID:8052960 PMID:8093743 PMID:25741868 PMID:28492532 PMID:31064749 PMID:12067914 More...
RGD:1578517
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thromboembolism
CTD ClinVar
PMID:8052960 PMID:25741868 PMID:31064749
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Proz
protein Z, vitamin K-dependent plasma glycoprotein
ISO
protein:decreased expression:plasma
RGD
PMID:12297123 PMID:12970515
RGD:1580720 , RGD:1580693
NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
G
Serpinc1
serpin family C member 1
ISO
ClinVar Annotator: match by term: Thromboembolism
ClinVar
PMID:1483705 PMID:1977621 PMID:3472589 PMID:25741868 PMID:28492532 PMID:31064749 More...
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Thbd
thrombomodulin
treatment
ISO
RGD
PMID:24098750
RGD:11038685
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Wfdc6a
WAP four-disulfide core domain 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9118606
NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144
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Mir223
microRNA 223
IMP
RGD
PMID:32141571
RGD:26884338
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Pros1
protein S
ISO
RGD
PMID:12907438
RGD:1578677
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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RT1-CE13
RT1 class I, locus CE13
ISO
associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish)
RGD
PMID:12372094
RGD:7364924
NCBI chr20:3,314,984...3,318,037
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Ace2
angiotensin I converting enzyme 2
treatment
IDA
RGD
PMID:20111697
RGD:9685451
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:11881036 PMID:21501650
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Apoh
apolipoprotein H
IDA
RGD
PMID:24642748
RGD:10054118
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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Bdkrb2
bradykinin receptor B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16514058
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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C5ar1
complement C5a receptor 1
IMP
associated with Anti-Glomerular Basement Membrane Disease
RGD
PMID:11422211
RGD:1600652
NCBI chr 1:76,948,622...76,959,826
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Cd2
Cd2 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16932337
NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026
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Cd40
CD40 molecule
ISO
RGD
PMID:21914625
RGD:5490522
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
susceptibility treatment
ISO IDA
associated with Endotoxemia protein:increased expression:plasma (human)
RGD
PMID:21914625 PMID:15306157 PMID:27085896
RGD:5490522 , RGD:11352250 , RGD:11344959
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16931792
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Cyp2c6v1
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20978260
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16754899
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14979412 PMID:25013951
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F10
coagulation factor X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1279834
NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
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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 chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437
G
F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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F2
coagulation factor II
treatment no_association
ISO IEP IDA
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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F2r
coagulation factor II (thrombin) receptor
ISO
RGD
PMID:14529396
RGD:1581036
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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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 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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F5
coagulation factor V
ISO
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 chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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F9
coagulation factor IX
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1279834
NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835
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Fcgr2a
Fc gamma receptor 2A
no_association
ISO
associated with Thrombocytopenia;DNA:polymorphism: :p.H131R (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11588041 PMID:9002937 PMID:18983497 PMID:20585032
RGD:5147983 , RGD:11040996 , RGD:5147987
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fga
fibrinogen alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8473507
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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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:24033266 PMID:25741868 PMID:28492532 PMID:31064749 PMID:17469143 More...
RGD:7175506
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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Fgg
fibrinogen gamma chain
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:10688828 PMID:15795540 PMID:21228398 PMID:24033266 PMID:25741868 PMID:26105150 PMID:28211264 PMID:28492532 PMID:29240685 PMID:30349899 PMID:30431218 PMID:30487145 PMID:30632992 PMID:31064749 PMID:31295712 PMID:31479941 More...
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Flt3
Fms related receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16932337
NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Fut4
fucosyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16932337
NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682
G
Gas6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11175853 PMID:15130911 PMID:15733062 PMID:16564713
NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
G
Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334511
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
G
Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24213632
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15367830
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:19168058 PMID:15242554
RGD:1598405
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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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 chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
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Il10
interleukin 10
ISO
RGD
PMID:12765335
RGD:1598469
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Itga2
integrin subunit 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 chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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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 chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Klf4
KLF transcription factor 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25339356
NCBI chr 5:70,278,843...70,283,751
Ensembl chr 5:70,278,972...70,283,602
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Klkb1
kallikrein B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25339356
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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Kng2
kininogen 2
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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Lrp8
LDL receptor related protein 8
ISO
associated with Antiphospholipid Syndrome
RGD
PMID:21119114
RGD:6483062
NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352
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Mas1
MAS1 proto-oncogene, G protein-coupled receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25339356
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Mertk
MER proto-oncogene, tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15130911 PMID:15130911
RGD:1582496
NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554
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Mmp1
matrix metallopeptidase 1
ISO
associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1607insG (rs11292517) (human)
RGD
PMID:20616161
RGD:7207048
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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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 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNP: :677C>T (human)
RGD
PMID:10780318
RGD:10449414
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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P2ry1
purinergic receptor P2Y1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334511
NCBI chr 2:145,241,975...145,248,186
Ensembl chr 2:145,241,849...145,248,457
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P2ry12
purinergic receptor P2Y12
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17334511 PMID:12897207 PMID:19692114
RGD:1580187 , RGD:6480647
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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Pde3a
phosphodiesterase 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17482796
NCBI chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274
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Pf4
platelet factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8282825 PMID:9446652 PMID:11588041 PMID:15795722
NCBI chr14:17,298,438...17,299,148
Ensembl chr14:17,298,308...17,299,365
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
IMP
RGD
PMID:15834429
RGD:1580861
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:2123154 PMID:12677255 PMID:19348381 PMID:22352330
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
IEP 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 chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plg
plasminogen
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868 PMID:28492532 PMID:34355501
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Podxl
podocalyxin-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22016802
NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8967151 PMID:9164807 PMID:11132655 PMID:18376272 PMID:8073406
RGD:11250413
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10706858 PMID:11132655
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Ptger3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17242161
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20350286
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Selp
selectin P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10544909
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpinc1
serpin family C member 1
treatment
ISO IDA
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 chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpine1
serpin family 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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25339356
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Spta1
spectrin, alpha, erythrocytic 1
ISO
RGD
PMID:9845553
RGD:11059524
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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Tbxas1
thromboxane A synthase 1
IDA
RGD
PMID:12384182
RGD:1601457
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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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 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19691487
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tyro3
TYRO3 protein tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15733062 PMID:15733062
RGD:1580531
NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142
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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:17110455 PMID:18252229 PMID:25741868 PMID:28492532 PMID:29581108
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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Vtn
vitronectin
ISO
RGD
PMID:15069014
RGD:1580815
NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
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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:19506354 PMID:20409624 PMID:20682599 PMID:21346256 PMID:22197721 PMID:22352330 PMID:23355534 PMID:23426949 PMID:24033266 PMID:24928861 PMID:25103891 PMID:25741868 PMID:25780857 PMID:26467025 PMID:27380589 PMID:27596108 PMID:28091443 PMID:28971901 PMID:30722078 PMID:30817071 PMID:31887760 PMID:31968368 PMID:32108991 PMID:32609846 PMID:33113216 PMID:33477601 PMID:33536631 PMID:34355501 PMID:34596727 PMID:34708896 PMID:34828413 More...
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
DNA:polymorphism::
RGD
PMID:15735796
RGD:11100013
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:10937809
RGD:11038826
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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B3gat2
beta-1,3-glucuronyltransferase 2
ISO
DNA:SNPs: :rs1304029,rs2748331(human)
RGD
PMID:28011674
RGD:14390077
NCBI chr 9:26,167,174...26,250,153
Ensembl chr 9:26,167,174...26,250,153
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Cd46
CD46 molecule
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:25684211
RGD:11352815
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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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 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:12411922 PMID:15059842 PMID:15534175 PMID:16493002 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:34355501 PMID:21464402 PMID:25665832 More...
RGD:5147763 , RGD:10449100
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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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 chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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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 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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Habp2
hyaluronan 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 PMID:26581002 PMID:26581003 PMID:26581004 PMID:26581005 PMID:22421107 More...
RGD:11353820
NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
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Kng2
kininogen 2
ISO
DNA:SNP: :rs710446 (human)
RGD
PMID:25472531
RGD:11059890
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16167916
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:9149031 PMID:21445774 PMID:11434940 PMID:24162787
RGD:11099984 , RGD:11099988
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Pros1
protein S
ISO
RGD
PMID:11434940 PMID:26466767
RGD:11099984 , RGD:11251678
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Selp
selectin P
ISO
associated with HIV Infections;protein:increased expression:plasma
RGD
PMID:21412059
RGD:6219001
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpinc1
serpin family C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:453287
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpind1
serpin family D member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1831893
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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Serpine1
serpin family E member 1
susceptibility
ISO
DNA:deletion:promoter:g.-676_-674delG (human)
RGD
PMID:17549286
RGD:8547715
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tfpi
tissue factor pathway inhibitor
ISO
RGD
PMID:14691572
RGD:11060266
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22473048
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vwf
von Willebrand factor
ISO
associated with Glomerulosclerosis, Focal Segmental
RGD
PMID:22295953
RGD:7207031
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
treatment
IDA
RGD
PMID:21095090
RGD:10449099
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Apoe
apolipoprotein E
ISO
RGD
PMID:22119245
RGD:6903200
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
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Ccl2
C-C motif chemokine ligand 2
IEP
mRNA, protein:increased expression:vein
RGD
PMID:18167211
RGD:2307053
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Comt
catechol-O-methyltransferase
susceptibility
ISO
DNA:polymorphism: :324G>A ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar RGD
PMID:25741868 PMID:31064749 PMID:18064318
RGD:2289709
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8120554
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Cxcl6
C-X-C motif chemokine ligand 6
IEP
RGD
PMID:7749835
RGD:5135275
NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12670338 PMID:17547733
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F11
coagulation factor XI
susceptibility
ISO
protein:increased activity:blood:
RGD
PMID:10706899
RGD:11041768
NCBI chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437
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F12
coagulation factor XII
susceptibility
ISO
DNA:polymorphism::46C>T(human) associated with Pregnancy Complications; DNA:polymorphism::46C>T(human)
RGD
PMID:15116249 PMID:20141580
RGD:11041808 , RGD:11041858
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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F13a1
coagulation factor XIII A1 chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:p.V34L(human)
CTD RGD
PMID:10365735 PMID:9920839 PMID:12358922
RGD:1581032 , RGD:10450745
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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F13b
coagulation factor XIII B chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Venous thrombosis, susceptibility to
CTD ClinVar
PMID:12456499 PMID:16241947 PMID:25741868
NCBI chr13:51,130,851...51,156,383
Ensembl chr13:51,130,920...51,156,381
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F2
coagulation factor II
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9869612 PMID:12296757 PMID:19920886 PMID:9409269 PMID:23535565
RGD:1580342 , RGD:10449430
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14967414
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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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 chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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F7
coagulation factor VII
treatment
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14967414 PMID:16378835
RGD:11041650
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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F8
coagulation factor VIII
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16875063 PMID:15634269
RGD:1582359
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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Fga
fibrinogen alpha chain
ISO IEP
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 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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Fgb
fibrinogen beta chain
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:12573244 PMID:15795540 PMID:25741868 PMID:28492532 PMID:31064749
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:23426106
RGD:11352755
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Habp2
hyaluronan binding protein 2
ISO
DNA:SNP: :p.G534E (rs7080536) (human)
RGD
PMID:22421107
RGD:11353820
NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
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Hp
haptoglobin
ISO
associated with Pulmonary Embolism;protein:increased expression:serum
RGD
PMID:17203959
RGD:1626365
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il10
interleukin 10
susceptibility
ISO
RGD
PMID:16807647
RGD:1598472
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il18
interleukin 18
IEP
protein:increased expression:serum
RGD
PMID:22318348
RGD:8655957
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
IEP
RGD
PMID:17651586
RGD:2311092
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
IEP
RGD
PMID:17651586
RGD:2311092
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:haplotype::rs2232354(human)
RGD
PMID:17413037
RGD:11528540
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Itga2
integrin subunit alpha 2
no_association
ISO
RGD
PMID:16380674
RGD:1582295
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Itgb3
integrin subunit beta 3
susceptibility
ISO
associated with Behcet Syndrome; DNA:polymorphism: :
RGD
PMID:21813062
RGD:8693342
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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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 chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kdr
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26600200
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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Mmp14
matrix metallopeptidase 14
ISO
RGD
PMID:16171603
RGD:1582570
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
IEP IDA
RGD
PMID:20515599 PMID:16171603
RGD:2325775 , RGD:1582570
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3
matrix metallopeptidase 3
IEP
RGD
PMID:20515599
RGD:2325775
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
HEP ISO
mRNA:increased expression:femoral vein (rat)
RGD
PMID:20515599 PMID:16920980
RGD:2325775 , RGD:1582648
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mthfr
methylenetetrahydrofolate reductase
no_association susceptibility
ISO
DNA:transition:cds:g.677C>T (human) CTD Direct Evidence: marker/mechanism DNA:transition: :677C>T (human) associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)
CTD RGD
PMID:19123085 PMID:10929044 PMID:12442281 PMID:10792297 PMID:22707612
RGD:1580590 , RGD:10449394 , RGD:6893655 , RGD:6893602
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nos3
nitric oxide synthase 3
susceptibility
ISO
associated with orthopedic surgery;DNA:SNP::rs1799983(human)
RGD
PMID:23922896
RGD:11533639
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pecam1
platelet and endothelial cell adhesion molecule 1
susceptibility
ISO
DNA:missense mutation:cds:p.L125V (human)
RGD
PMID:25846278
RGD:11541089
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
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Pigm
phosphatidylinositol glycan anchor biosynthesis, class M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16767100
NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Deep venous thrombosis
CTD ClinVar
PMID:11144008 PMID:15557913 PMID:19415734 PMID:25741868 PMID:31064749
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plg
plasminogen
ISO
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Deep venous thrombosis
CTD ClinVar
PMID:7215189 PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 PMID:16849641 PMID:20981092 PMID:22995991 PMID:23629776 PMID:25741868 PMID:27976734 PMID:28492532 PMID:30487145 PMID:31064749 PMID:31589614 PMID:31980526 PMID:34355501 More...
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
DNA:missense mutation:cds:p.Q184H (human) 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:8128429 PMID:12730085 PMID:25741868 PMID:25748729 PMID:28492532 PMID:31064749 PMID:34355501 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 chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Pros1
protein S
ISO
DNA:missense mutation:cds:p.G295V (human) ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar RGD
PMID:7803790 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 PMID:28492532 PMID:31064749 PMID:9424998 More...
RGD:9743896
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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Serpina10
serpin family A member 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Venous thrombosis, susceptibility to
CTD ClinVar
PMID:15461625
NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
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Serpina5
serpin family A member 5
susceptibility
ISO
protein:increased expression:plasma (human)
RGD
PMID:12139754
RGD:1580299
NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407
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Serpinc1
serpin family C member 1
ISO
ClinVar Annotator: match by term: Deep venous thrombosis CTD Direct Evidence: marker/mechanism DNA:missense mutations: :multiple
ClinVar CTD RGD
PMID:55783 PMID:1469094 PMID:1483705 PMID:1555650 PMID:1977621 PMID:2336381 PMID:3191114 PMID:3472589 PMID:6435583 PMID:8810955 PMID:16705712 PMID:18954896 PMID:22498748 PMID:24072242 PMID:24158114 PMID:25741868 PMID:26748602 PMID:28492532 PMID:29215785 PMID:31064749 PMID:23550037 PMID:23932013 More...
RGD:11035247 , RGD:11035248
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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Serpine1
serpin family E member 1
ISO IEP IMP
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tbxa2r
thromboxane A2 receptor
treatment
IMP
RGD
PMID:7848332
RGD:11059887
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Tfpi
tissue factor pathway inhibitor
ISO
protein:increased expression:plasma: CTD Direct Evidence: therapeutic
CTD RGD
PMID:18480984 PMID:18600090 PMID:17973652 PMID:12560220
RGD:11060130 , RGD:11060257 , RGD:11060137
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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Vcam1
vascular cell adhesion molecule 1
IEP
protein:increased expression:thrombus, vein
RGD
PMID:23199547
RGD:7207783
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
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Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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Itga2
integrin subunit alpha 2
no_association
ISO
DNA:snp:cds:g.807C>T (human)
RGD
PMID:16157382
RGD:1582301
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Serpinf1
serpin family F member 1
ISO
protein:decreased expression:vitreous humor (human)
RGD
PMID:20714746
RGD:8554903
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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