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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:vein disease
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Accession:DOID:866 term browser browse the term
Definition:A vascular disease that is located_in a vein. (DO)
Synonyms:primary_id: RDO:9002824
 xref: ICD10CM:I82;   ICD9CM:453
For additional species annotation, visit the Alliance of Genome Resources.


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Budd-Chiari syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO protein: decreased expression: plasma (human) RGD PMID:21145806 RGD:25671435 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G F5 coagulation factor V susceptibility
severity
disease_progression
ISO DNA:missense mutation:cds:R506Q (human)
Factor V Leiden;DNA:missense mutation:cds:G1691A (human)
associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
OMIM
RGD
PMID:9245936 PMID:16825912 PMID:26238013 PMID:29771426 RGD:11537993 RGD:14700660 RGD:14700661 RGD:15036813 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 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:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:32581362 NCBI chrNW_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739
JBrowse link
G Jak2 Janus kinase 2 ISO OMIM NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition: :677C>T (human)
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD PMID:12221667 PMID:26238013 RGD:10449395 RGD:11537993 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
central retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:20688738 RGD:11100028 NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
JBrowse link
chronic venous insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:decreased activity:plasma: RGD PMID:23182154 RGD:9479068 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:saphenous vein, venous endothelial cell (human) RGD PMID:22737245 RGD:6484725 NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
JBrowse link
esophageal varix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO associated with ascites RGD PMID:8664482 RGD:1601159 NCBI chrNW_004955447:9,327...21,212 JBrowse link
hemorrhoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tek TEK receptor tyrosine kinase ISO OMIM NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386
JBrowse link
portal vein thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin severity ISO associated with liver cirrhosis;protein:increased expression:plasma (human) RGD PMID:28465646 RGD:14985237 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
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 chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:25987440 PMID:27221722 RGD:14696705 RGD:14696749 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO RGD PMID:21487926 RGD:5490120 NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717
JBrowse link
G Aqp4 aquaporin 4 ISO mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:SNP: :20210G>A (human) RGD PMID:14994919 PMID:22800650 RGD:7387258 RGD:7394774 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G F5 coagulation factor V onset
no_association
ISO associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)
DNA:missense mutation:cds:1691G>A (human)
DNA:SNP:cds:1691G>A (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10511031 PMID:10634550 PMID:12022286 PMID:16113792 RGD:7394767 RGD:7394773 RGD:7394778 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10342378 RGD:8655593 NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:21487926 RGD:5490120 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snp, haplotype:cds:g.807C>T (human)
CTD
RGD
PMID:12928694 RGD:8686430 NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170
JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:21487926 RGD:5490120 NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility
ISO DNA:SNP: :1298A>C(human)
DNA:missense mutation:cds:677C>T (human)
DNA:SNP: :677C>T(human)
RGD PMID:10485556 PMID:23289804 PMID:24250697 RGD:10449405 RGD:10449421 RGD:7387256 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.L55M (human)
RGD PMID:18084236 PMID:23441121 RGD:8547547 RGD:8547555 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO protein:increased activity:plasma (human)
DNA:deletion:promoter:g.-676_-674delG (human)
RGD PMID:15213845 PMID:16244763 RGD:8547742 RGD:8547805 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16680105 PMID:21487926 RGD:5490120 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:21487926 RGD:5490120 NCBI chrNW_004955422:20,840,055...20,843,182
Ensembl chrNW_004955422:20,840,055...20,843,225
JBrowse link
varicocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp9 caspase 9 ISO protein:increased expression:testis RGD PMID:19145435 RGD:2311432 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:Leydig cell, spermatid RGD PMID:16616089 RGD:1600348 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epididymus (rat) RGD PMID:25095617 RGD:9068459 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Hmox1 heme oxygenase 1 severity ISO RGD PMID:15878918 RGD:1598403 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO mRNA:increased expression:spermatid RGD PMID:15804863 RGD:1624240 NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:testis RGD PMID:16616101 RGD:2311094 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:testis RGD PMID:16616101 RGD:2311094 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
Varicose Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 no_association ISO DNA:polymorphism:(TA) dinucleotide repeat RGD PMID:16153823 RGD:1626508 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:SNPs:promoter, exon
DNA:polymorphism:intron:(CA) dinucleotide repeat (human)
RGD PMID:16153823 PMID:18070128 RGD:1626508 RGD:8553061 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
JBrowse link
G Hfe homeostatic iron regulator susceptibility
onset
ISO associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human)
associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human)
RGD PMID:16102632 PMID:16678024 RGD:1582685 RGD:8694379 NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143
JBrowse link
G Lepr leptin receptor ISO mRNA:decreased expression:skin RGD PMID:22773832 RGD:10412021 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:decreased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
varicose veins term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpt dermatopontin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chrNW_004955462:8,451,159...8,480,085
Ensembl chrNW_004955462:8,451,112...8,480,827
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Varicose veins ClinVar PMID:25741868 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Lum lumican ISO RGD PMID:15871312 RGD:1582120 NCBI chrNW_004955405:28,299,966...28,307,982
Ensembl chrNW_004955405:28,298,988...28,308,054
JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chrNW_004955413:11,614,851...11,618,090
Ensembl chrNW_004955413:11,615,078...11,618,024
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16465063 RGD:1582620 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
G Tnc tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chrNW_004955419:12,569,620...12,662,897
Ensembl chrNW_004955419:12,569,547...12,662,958
JBrowse link
venous insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Icam1 intercellular adhesion molecule 1 susceptibility ISO associated with Venous Thrombosis; RGD PMID:25495610 RGD:11054206 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
Venous Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 treatment ISO RGD PMID:21095090 RGD:10449099 NCBI chrNW_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22119245 RGD:6903200 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Arvcf ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971
JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO DNA:polymorphism: :324G>A
ClinVar Annotator: match by term: Deep venous thrombosis
RGD
ClinVar
PMID:18064318 PMID:25741868 PMID:31064749 RGD:2289709 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
JBrowse link
G Dgcr6l DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:17,810,570...17,815,905 JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:17,998,565...18,034,247
Ensembl chrNW_004955442:17,998,565...18,030,831
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 PMID:17547733 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G F11 coagulation factor XI susceptibility ISO protein:increased activity:blood: RGD PMID:10706899 RGD:11041768 NCBI chrNW_004955403:22,811,211...22,830,281
Ensembl chrNW_004955403:22,811,380...22,830,563
JBrowse link
G F12 coagulation factor XII susceptibility ISO associated with Pregnancy Complications; DNA:polymorphism::46C>T(human) RGD PMID:15116249 PMID:20141580 RGD:11041808 RGD:11041858 NCBI chrNW_004955408:29,644,279...29,665,161
Ensembl chrNW_004955408:29,642,096...29,650,950
JBrowse link
G F13a1 coagulation factor XIII A chain susceptibility ISO DNA:polymorphism:cds:p.V34L(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9920839 PMID:10365735 PMID:12358922 RGD:10450745 RGD:1581032 NCBI chrNW_004955465:7,444,118...7,617,366
Ensembl chrNW_004955465:7,443,166...7,617,436
JBrowse link
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 chrNW_004955406:33,633,911...33,660,506
Ensembl chrNW_004955406:33,632,144...33,660,535
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9409269 PMID:9869612 PMID:12296757 PMID:19920886 PMID:23535565 RGD:10449430 RGD:1580342 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414 NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (human)
ClinVar Annotator: match by term: Venous thrombosis
DNA:mutation: :1691G>A (human)
associated with lupus erythematosus, systemic; DNA:polymorphism:cds:rs6025(human)
associated with Behcet Syndrome;DNA:SNP: :1691G>A (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8948311 PMID:9293873 PMID:9836759 PMID:12296757 PMID:12827938 PMID:12865888 PMID:15033664 PMID:16875063 PMID:19486170 PMID:22707612 PMID:25741868 PMID:31064749 RGD:6893601 RGD:6893602 RGD:7394762 RGD:7394779 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
JBrowse link
G F7 coagulation factor VII treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14967414 PMID:16378835 RGD:11041650 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15634269 PMID:16875063 RGD:1582359 NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:peripheral blood (rat)
DNA:SNP: :rs6050 (human)
RGD PMID:22353194 PMID:23199547 RGD:5688756 RGD:7207783 NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:12573244 PMID:15795540 PMID:25741868 PMID:31064749 NCBI chrNW_004955471:8,824,901...8,832,836
Ensembl chrNW_004955471:8,822,965...8,832,884
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:18,224,081...18,281,558 JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:23426106 RGD:11352755 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Habp2 hyaluronan binding protein 2 ISO DNA:SNP: :p.G534E (rs7080536) (human) RGD PMID:22421107 RGD:11353820 NCBI chrNW_004955431:18,572,690...18,604,399
Ensembl chrNW_004955431:18,572,690...18,604,059
JBrowse link
G Il10 interleukin 10 susceptibility ISO RGD PMID:16807647 RGD:1598472 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:22318348 RGD:8655957 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:17651586 RGD:2311092 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:17651586 RGD:2311092 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:haplotype::rs2232354(human) RGD PMID:17413037 RGD:11528540 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Itga2 integrin subunit alpha 2 no_association ISO RGD PMID:16380674 RGD:1582295 NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170
JBrowse link
G Itgb3 integrin subunit beta 3 susceptibility ISO associated with Behcet Syndrome; DNA:polymorphism: : RGD PMID:21813062 RGD:8693342 NCBI chrNW_004955478:9,788,192...9,830,254 JBrowse link
G Jak2 Janus kinase 2 no_association ISO DNA:SNP: :rs10974944 (human)
DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)
CTD Direct Evidence: marker/mechanism
DNA:mutation: :p.V617F (human)
RGD
CTD
PMID:17059429 PMID:20434300 PMID:23845539 RGD:10449376 RGD:10449391 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26600200 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Klhl22 kelch like family member 22 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:19,010,971...19,051,300
Ensembl chrNW_004955442:19,009,155...19,051,393
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:19,112,269...19,179,742
Ensembl chrNW_004955442:19,112,270...19,179,742
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16171603 RGD:1582570 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16171603 PMID:20515599 RGD:1582570 RGD:2325775 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16920980 PMID:20515599 RGD:1582648 RGD:2325775 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:transition:cds:g.677C>T (human)
associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)
CTD Direct Evidence: marker/mechanism
DNA:transition: :677C>T (human)
RGD
CTD
PMID:10792297 PMID:10929044 PMID:12442281 PMID:19123085 PMID:22707612 RGD:10449394 RGD:1580590 RGD:6893602 RGD:6893655 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with orthopedic surgery;DNA:SNP::rs1799983(human) RGD PMID:23922896 RGD:11533639 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.L125V (human) RGD PMID:25846278 RGD:11541089 NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725
JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis class M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16767100 NCBI chrNW_004955468:11,817,647...11,820,456
Ensembl chrNW_004955468:11,818,604...11,819,872
JBrowse link
G 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 chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: therapeutic CTD PMID:7215189 NCBI chrNW_004955439:20,317,814...20,366,724
Ensembl chrNW_004955439:20,317,552...20,366,475
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar Annotator: match by term: Deep vein thrombosis
DNA:missense mutations: :p.D297H, p.V420L (human)
DNA:missense mutation:cds:p.Q184H (human)
DNA:missense mutation: :c.565C>T (rs146922325) (human)
DNA:silent mutation, missense mutation:cds:g.66C>T, p.R147W (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1868249 PMID:8128429 PMID:8400292 PMID:8499565 PMID:10936861 PMID:12730085 PMID:15114590 PMID:17152060 PMID:22545135 PMID:23550037 PMID:25741868 PMID:25748729 PMID:28492532 PMID:31064749 RGD:11035247 RGD:11099989 RGD:11099990 RGD:11100014 RGD:1578391 RGD:1578515 NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
JBrowse link
G Pros1 protein S ISO DNA:missense mutation:cds:p.G295V (human)
ClinVar Annotator: match by term: Deep vein thrombosis
RGD
ClinVar
PMID:7803790 PMID:9424998 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 PMID:28492532 PMID:31064749 RGD:9743896 NCBI chrNW_004955407:3,514,900...3,566,165
Ensembl chrNW_004955407:3,535,388...3,565,058
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:17,985,456...17,992,945
Ensembl chrNW_004955442:17,985,544...17,992,759
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:17,866,508...17,891,803
Ensembl chrNW_004955442:17,866,398...17,891,820
JBrowse link
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:18,995,253...19,006,499
Ensembl chrNW_004955442:18,996,070...19,001,624
JBrowse link
G 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 chrNW_004955438:16,335,201...16,345,093
Ensembl chrNW_004955438:16,335,544...16,345,094
JBrowse link
G Serpina5 serpin family A member 5 susceptibility ISO protein:increased expression:plasma (human) RGD PMID:12139754 RGD:1580299 NCBI chrNW_004955438:17,787,398...17,796,013
Ensembl chrNW_004955438:17,787,399...17,796,414
JBrowse link
G Serpinc1 serpin family C member 1 ISO DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Deep venous thrombosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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:23550037 PMID:23932013 PMID:24072242 PMID:24158114 PMID:25741868 PMID:26748602 PMID:28492532 PMID:29215785 PMID:31064749 RGD:11035247 RGD:11035248 NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384
JBrowse link
G Serpine1 serpin family E member 1 ISO DNA:deletion:promoter:g.-676_-674delG (human)
mRNA:increased expression:femoral vein (rat)
RGD PMID:9535178 PMID:14653439 PMID:26535698 RGD:11060966 RGD:1580132 RGD:8547875 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:7848332 RGD:11059887 NCBI chrNW_004955495:5,539,382...5,557,441
Ensembl chrNW_004955495:5,539,889...5,557,441
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: therapeutic
protein:increased expression:plasma:
RGD
CTD
PMID:12560220 PMID:17973652 PMID:18480984 PMID:18600090 RGD:11060130 RGD:11060137 RGD:11060257 NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:17,993,130...17,997,944
Ensembl chrNW_004955442:17,993,434...17,997,850
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:thrombus, vein RGD PMID:23199547 RGD:7207783 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:17,965,186...17,980,854
Ensembl chrNW_004955442:17,965,963...17,980,854
JBrowse link
G Znf74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004955442:18,969,061...18,982,193 JBrowse link
venous tributary occlusion of retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 no_association ISO DNA:snp:cds:g.807C>T (human) RGD PMID:16157382 RGD:1582301 NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12530
    disease of anatomical entity 12210
      cardiovascular system disease 3144
        vascular disease 2252
          vein disease 96
            Venous Thrombosis + 76
            esophageal varix 1
            multiple cutaneous and mucosal venous malformations 1
            phlebitis + 0
            pulmonary vein leiomyosarcoma 0
            retinal vein occlusion + 17
            superior vena cava angiosarcoma 0
            superior vena cava leiomyosarcoma 0
            varicose veins + 20
            venous insufficiency + 3
paths to the root