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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
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
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
F7
coagulation factor VII
treatment
IMP ISO
human protein in a rat model
RGD
PMID:12714830 PMID:11167855
RGD:11041657 , RGD:11049507
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
G
Flna
filamin A
ISO
ClinVar Annotator: match by term: Arterial thrombosis
ClinVar
PMID:25741868
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
G
Gp6
glycoprotein VI
ameliorates treatment
ISO IMP
RGD
PMID:25051961 PMID:17322098 PMID:16254207 PMID:23448972 PMID:15507524
RGD:401794404 , RGD:401824682 , RGD:401824681 , RGD:401824648 , RGD:401824646
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
G
Gsn
gelsolin
ameliorates
ISO
human gene in mouse model
RGD
PMID:31002695
RGD:329333020
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
protein:increased expression:plantar, foot muscle (rat)
RGD
PMID:22351094
RGD:8695963
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
G
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
G
Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:25482922
RGD:11530049
NCBI chr 1:228,016,439...228,024,736
G
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
G
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
G
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
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Apoa1
apolipoprotein A1
ISO
protein: decreased expression: plasma (human)
RGD
PMID:21145806
RGD:25671435
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
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 chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 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 chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
G
Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Budd-Chiari syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 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 chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition: :677C>T (human) DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:12221667 PMID:26238013
RGD:10449395 , RGD:11537993
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
RGD
PMID:17095718
RGD:11040529
NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:20688738
RGD:11100028
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
G
Serpinf1
serpin family F member 1
IEP
protein:increased expression:neuroretina (rat)
RGD
PMID:21487926
RGD:5490120
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Cerebral venous thrombosis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Gpx3
glutathione peroxidase 3
no_association
ISO
DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human)
RGD
PMID:18096833 PMID:19095977
RGD:401827161 , RGD:401827164
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gp6
glycoprotein VI
ISO
DNA:missense mutation:CDS:c.13254T>C (human)
RGD
PMID:15306180
RGD:401793750
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
G
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
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gp1ba
glycoprotein Ib platelet subunit alpha
susceptibility
ISO
associated with infective endocarditis;DNA:repeat:CDS:(human)
RGD
PMID:23611001
RGD:42722623
NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774
G
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
G
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
G
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
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
F7
coagulation factor VII
IEP
mRNA:altered expression:liver (rat)
RGD
PMID:17660074
RGD:2312312
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by 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 chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
G
Serpind1
serpin family 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 chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Kl
Klotho
susceptibility
ISO
DNA:polymorphism:promoter:-395G>A(human)
RGD
PMID:16973281
RGD:10403059
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
F2
coagulation factor II, thrombin
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
Gpx3
glutathione peroxidase 3
no_association
ISO
DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human)
RGD
PMID:20946167
RGD:401827165
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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
G
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
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ccl2
C-C motif chemokine ligand 2
ISO
associated with Behcet Syndrome;protein:increased expression:serum (human)
RGD
PMID:16273763
RGD:8548850
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
F2
coagulation factor II, thrombin
severity
ISO
associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD
PMID:28465646
RGD:14985237
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Igf1r
insulin-like growth factor 1 receptor
susceptibility
ISO
associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human)
RGD
PMID:24758241
RGD:14985227
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP: :677C>T(human)
RGD
PMID:27221722 PMID:25987440
RGD:14696705 , RGD:14696749
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Serpine1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:
RGD
PMID:25987440
RGD:14696749
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bhmt
betaine-homocysteine S-methyltransferase
susceptibility
ISO
DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human)
RGD
PMID:37203835
RGD:329853743
NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
G
Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2510358
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
G
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
G
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
G
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
G
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
G
Dab2ip
DAB2 interacting protein
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:CDS:intron 1 (rs7025486) (human)
CTD RGD
PMID:20622881 PMID:20622881
RGD:401901599
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
G
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
G
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
G
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
G
F2
coagulation factor II, thrombin
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
G
F5
coagulation factor V
ISO
RGD
PMID:14996674
RGD:4892657
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
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 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
G
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
G
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
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
associated with Venous Thrombosis;DNA:SNP:intron:rs9939609 (human)
RGD
PMID:25161014
RGD:329901770
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
Pros1
protein S
ISO
RGD
PMID:12907438
RGD:1578677
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
G
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
G
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
G
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
G
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
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DPB1*0202 (human)
RGD
PMID:19165231
RGD:5143999
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aqp1
aquaporin 1
IEP
RGD
PMID:21487926
RGD:5490120
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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
G
Crp
C-reactive protein
ISO
protein:increased expression:serum:
RGD
PMID:6720266
RGD:9491754
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
F2
coagulation factor II, thrombin
no_association
ISO
DNA:SNP: :20210G>A (human)
RGD
PMID:22800650 PMID:14994919
RGD:7387258 , RGD:7394774
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F5
coagulation factor V
onset no_association
ISO
associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:1691G>A (human) DNA:SNP:cds:1691G>A (human)
CTD RGD
PMID:12022286 PMID:10511031 PMID:16113792 PMID:10634550
RGD:7394767 , RGD:7394778 , RGD:7394773
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:10342378
RGD:8655593
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Il1b
interleukin 1 beta
IEP
mRNA:increased expression:neuroretina, retinal pigment epithelium (rat)
RGD
PMID:21487926
RGD:5490120
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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
G
Itga2
integrin subunit alpha 2
susceptibility
ISO
DNA:snp, haplotype:cds:g.807C>T (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12928694 PMID:12928694
RGD:8686430
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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
G
Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutation:cds:p.L55M (human) protein:decreased activity:serum (human)
RGD
PMID:23441121 PMID:18084236
RGD:8547547 , RGD:8547555
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Serpine1
serpin family E member 1
susceptibility
ISO
DNA:deletion:promoter:g.-676_-674delG (human) protein:increased activity:plasma (human)
RGD
PMID:16244763 PMID:15213845
RGD:8547742 , RGD:8547805
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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
G
Vegfb
vascular endothelial growth factor B
IEP
RGD
PMID:21487926
RGD:5490120
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
F5
coagulation factor V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18382986
NCBI chr13:76,513,509...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
G
Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18382986
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Smarcal1
SNF2 related chromatin remodeling annealing helicase 1
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia OMIM:242900 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:9536098 PMID:11799392 PMID:12471207 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:20179009 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23359635 PMID:23671665 PMID:24197801 PMID:24589093 PMID:25349199 PMID:25428399 PMID:25640679 PMID:25741868 PMID:25748404 PMID:25943327 PMID:26089390 PMID:26195148 PMID:26499378 PMID:26633542 PMID:27577878 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28796785 PMID:28844315 PMID:29127259 PMID:29282041 PMID:29802247 PMID:30026777 PMID:30295827 PMID:30586318 PMID:30635151 PMID:30687093 PMID:30784191 PMID:31039288 PMID:31275356 PMID:32393263 PMID:32499645 PMID:32604935 PMID:33203071 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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
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
G
F2
coagulation factor II, thrombin
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
G
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:19486170 PMID:20554945 PMID:25741868 PMID:28492532 PMID:29652992 PMID:31064749 PMID:32833806 PMID:34280927 PMID:34355501 PMID:37150682 PMID:11471205 PMID:21955693 More...
RGD:1580340 , RGD:6893596
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
F7
coagulation factor VII
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20172985
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
G
F8
coagulation factor VIII
ISO
RGD
PMID:15634269
RGD:1582359
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
G
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
G
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
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
RGD
PMID:17095718
RGD:11040529
NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392
G
Gsn
gelsolin
ameliorates
ISO
human gene in mouse model
RGD
PMID:31002695
RGD:329333020
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
G
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
G
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
G
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:7482420 PMID:8052960 PMID:8093743 PMID:8845458 PMID:22627591 PMID:25741868 PMID:28492532 PMID:31064749 PMID:31821907 PMID:32717757 PMID:34708097 PMID:35112923 PMID:38015884 PMID:12067914 More...
RGD:1578517
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
G
Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thromboembolism
CTD ClinVar
PMID:8052960 PMID:25741868 PMID:28492532 PMID:31064749
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
G
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:8401542 PMID:23910795 PMID:25741868 PMID:27098529 PMID:28492532 PMID:28607330 PMID:31064749 More...
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
G
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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Mir223
microRNA 223
IMP
RGD
PMID:32141571
RGD:26884338
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
G
Pros1
protein S
ISO
RGD
PMID:12907438
RGD:1578677
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
G
RT1-CE13
RT1 class I, locus CE13
ISO
associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish)
RGD
PMID:12372094
RGD:7364924
NCBI chr20:3,314,830...3,318,106
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ace2
angiotensin 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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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:135,127,052...135,138,768
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 chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
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 chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437
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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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F13b
coagulation factor XIII B chain
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381
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F2
coagulation factor II, thrombin
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) 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 chr13:76,513,509...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 ClinVar Annotator: match by term: Thrombus
CTD ClinVar
PMID:1279834 PMID:7937052 PMID:19846852 PMID:25741868
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 2:168,374,120...168,381,523
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:20978265 PMID:24033266 PMID:25741868 PMID:26105150 PMID:26561523 PMID:28492532 PMID:31064749 PMID:32935436 PMID:33477601 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: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:32610551 PMID:32852326 PMID:33477601 PMID:35809055 PMID:35975558 PMID:37583269 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 chr12:7,623,930...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
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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 chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334511
NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774
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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
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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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Itgam
integrin subunit alpha M
ISO
associated with atrial fibrillation;protein:increased expression:monocyte, granulocyte (human)
RGD
PMID:26411420
RGD:329901838
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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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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Kng1
kininogen 1
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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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 chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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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 chr13:62,163,936...62,172,193
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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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Thrombus
ClinVar
PMID:25741868
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 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 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 chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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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 chr20:3,626,685...3,629,303
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: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 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: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 PMID:38040335 More...
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
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
G
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
G
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
G
F2
coagulation factor II, thrombin
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:2825773 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:16606808 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:28707429 PMID:30297698 PMID:34110897 PMID:34355501 PMID:38498041 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
G
F5
coagulation factor V
disease_progression
ISO
DNA:mutation: :1691G>A (human) DNA:SNP: :rs6025(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493
RGD:10449100 , RGD:11536892
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
Fga
fibrinogen alpha chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to
CTD ClinVar
PMID:10910940 PMID:16362348 PMID:25741868
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
sexual_dimorphism
ISO
DNA:SNP: :rs9939609 (human) DNA:SNP: :rs1558902 (human)
RGD
PMID:29325734 PMID:28528403
RGD:329812019 , RGD:329901775
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
G
Gp6
glycoprotein VI
no_association
ISO
associated with sticky platelet syndrome;DNA:SNPs:exon, intron: (rs1613662, rs1654419) (human) DNA:SNP:exon: (rs1613662) (human)
RGD
PMID:22821001 PMID:19278955 PMID:23150947
RGD:401794137 , RGD:401794563 , RGD:401794562
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
G
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:25741868 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
G
Kng1
kininogen 1
ISO
DNA:SNP: :rs710446 (human)
RGD
PMID:25472531
RGD:11059890
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
G
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
G
Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
ClinVar Annotator: match by term: Venous thromboembolism
ClinVar
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
G
Mt-cyb
mitochondrially encoded cytochrome b
ISO
ClinVar Annotator: match by term: Venous thromboembolism
ClinVar
PMID:25741868
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
G
Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
ClinVar Annotator: match by term: Venous thromboembolism
ClinVar
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
G
Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNP: :677C>T (human) DNA:SNP: :677C>T, 1298A>C (human)
RGD
PMID:25207100 PMID:25207100
RGD:10449399 , RGD:10449399
NCBI chr 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: marker/mechanism
CTD
PMID:16167916
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22473048
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
G
Vkorc1
vitamin K epoxide reductase complex, subunit 1
ISO
ClinVar Annotator: match by term: Venous thromboembolism
ClinVar
PMID:15883587 PMID:15888487 PMID:15930419 PMID:15947090 PMID:16580898 PMID:16611310 PMID:16890578 PMID:17049586 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:22274142 PMID:22349464 PMID:22486182 PMID:22528326 PMID:22571356 PMID:22592842 PMID:22629463 PMID:22676192 PMID:22854539 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: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: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:29781049 PMID:31114289 PMID:31395958 PMID:31720756 PMID:31902949 More...
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
G
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
G
Zfpm2
zinc finger protein, multitype 2
susceptibility
ISO
DNA:SNP: :rs4602861(human)
RGD
PMID:28373160
RGD:155882487
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
treatment
IDA
RGD
PMID:21095090
RGD:10449099
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
G
Apoe
apolipoprotein E
ISO
RGD
PMID:22119245
RGD:6903200
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
G
Ccl2
C-C motif chemokine ligand 2
IEP
mRNA, protein:increased expression:vein
RGD
PMID:18167211
RGD:2307053
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Comt
catechol-O-methyltransferase
susceptibility
ISO
DNA:polymorphism: :324G>A ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar RGD
PMID:25741868 PMID:31064749 PMID:18064318
RGD:2289709
NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8120554
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Cxcl6
C-X-C motif chemokine ligand 6
IEP
RGD
PMID:7749835
RGD:5135275
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
G
Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12670338 PMID:17547733
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
F11
coagulation factor XI
susceptibility
ISO
protein:increased activity:blood:
RGD
PMID:10706899
RGD:11041768
NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437
G
F12
coagulation factor XII
susceptibility
ISO
DNA:polymorphism::46C>T(human) associated with Pregnancy Complications; DNA:polymorphism::46C>T(human)
RGD
PMID:15116249 PMID:20141580
RGD:11041808 , RGD:11041858
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
G
F13a1
coagulation factor XIII A1 chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:p.V34L(human)
CTD RGD
PMID:10365735 PMID:9920839 PMID:12358922
RGD:1581032 , RGD:10450745
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
G
F13b
coagulation factor XIII B chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Venous thrombosis, susceptibility to
CTD ClinVar
PMID:12456499 PMID:16241947 PMID:25741868
NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381
G
F2
coagulation factor II, thrombin
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9869612 PMID:12296757 PMID:19920886 PMID:9409269 PMID:23535565
RGD:1580342 , RGD:10449430
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14967414
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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 chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
F7
coagulation factor VII
treatment
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14967414 PMID:16378835
RGD:11041650
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
G
F8
coagulation factor VIII
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16875063 PMID:15634269
RGD:1582359
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
G
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 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392
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Gp6
glycoprotein VI
treatment
ISO
protein:increased expression:plasma (human)
RGD
PMID:25253166 PMID:16254207
RGD:401794452 , RGD:401824681
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
G
Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:23426106
RGD:11352755
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Habp2
hyaluronan binding protein 2
ISO
DNA:SNP: :p.G534E (rs7080536) (human)
RGD
PMID:22421107
RGD:11353820
NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36162953
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
G
Hp
haptoglobin
ISO
associated with Pulmonary Embolism;protein:increased expression:serum
RGD
PMID:17203959
RGD:1626365
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Il10
interleukin 10
susceptibility
ISO
RGD
PMID:16807647
RGD:1598472
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il18
interleukin 18
IEP
protein:increased expression:serum
RGD
PMID:22318348
RGD:8655957
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1a
interleukin 1 alpha
IEP
RGD
PMID:17651586
RGD:2311092
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
IEP
RGD
PMID:17651586
RGD:2311092
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:haplotype::rs2232354(human)
RGD
PMID:17413037
RGD:11528540
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Itga2
integrin subunit alpha 2
no_association
ISO
RGD
PMID:16380674
RGD:1582295
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
G
Itgb3
integrin subunit beta 3
susceptibility
ISO
associated with Behcet Syndrome; DNA:polymorphism: :
RGD
PMID:21813062
RGD:8693342
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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 chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Kdr
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26600200
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
G
Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
G
Mmp14
matrix metallopeptidase 14
ISO
RGD
PMID:16171603
RGD:1582570
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
G
Mmp2
matrix metallopeptidase 2
IEP IDA
RGD
PMID:20515599 PMID:16171603
RGD:2325775 , RGD:1582570
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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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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Pf4
platelet factor 4
ISO
associated with Wounds and Injuries;mRNA:increased expression:blood
RGD
PMID:32347511
RGD:329901817
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar
PMID:25741868 PMID:31064749
NCBI chr11:83,609,148...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 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:28795768 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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Ppbp
pro-platelet basic protein
ameliorates
ISO
associated with Wounds and Injuries;mRNA:increased expression:blood
RGD
PMID:32347511 PMID:23550035
RGD:329901817 , RGD:401794958
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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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 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 chr18:23,764,367...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 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 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 chr11:82,844,309...82,869,251
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 PMID:25741868
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: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 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
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all