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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:xref: ICD10CM:I82;   ICD9CM:453
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 severity
susceptibility
disease_progression		 ISO associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
ClinVar Annotator: match by term: Budd-Chiari syndrome
Factor V Leiden;DNA:missense mutation:cds:G1691A (human)
DNA:missense mutation:cds:R506Q (human)		 RGD
OMIM
ClinVar		 PMID:11950065 PMID:16246256 PMID:16825912 PMID:19486170 PMID:24033266 More... RGD:11537993 RGD:14700660 RGD:14700661 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:15837627 PMID:15858187 PMID:15920007 More... 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 ClinVar Annotator: match by term: Budd-Chiari syndrome OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... 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
Caroli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO MouseDO NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301 		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
cerebral venous thrombosis term browser
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 chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
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 chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032 		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 Gja4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Cutaneous venous malformation ClinVar PMID:33912852 NCBI chrNW_004955452:12,902,764...12,905,337
Ensembl chrNW_004955452:12,902,773...12,905,337 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component OMIM
ClinVar		 PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 More... NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386 		JBrowse link
phlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:34434487 NCBI chrNW_004955413:33,460,975...33,469,935
Ensembl chrNW_004955413:33,465,982...33,466,953 		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 Nrp1 neuropilin 1 ISO MouseDO NCBI chrNW_004955462:4,101,997...4,241,012
Ensembl chrNW_004955462:4,101,999...4,241,012 		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
G Pdcd10 programmed cell death 10 ISO protein:increased expression:testis (rat) RGD PMID:19647235 RGD:401827162 NCBI chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626 		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 Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:vein: RGD PMID:26808710 RGD:11529441 NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420 		JBrowse link
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 Efnb2 ephrin B2 ISO mRNA,protein:increased expression:vein: RGD PMID:26808710 RGD:11529441 NCBI chrNW_004955404:5,000,906...5,030,068
Ensembl chrNW_004955404:5,000,906...5,030,126 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Varicose veins ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO mRNA,protein:increased expression:nucleus, vein: RGD PMID:26808710 RGD:11529441 NCBI chrNW_004955436:7,060,930...7,070,610
Ensembl chrNW_004955436:7,060,930...7,070,030 		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 Pecam1 platelet and endothelial cell adhesion molecule 1 ISO mRNA,protein:decreased expression:endothelium: RGD PMID:26808710 RGD:11529441 NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188 		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
G Vim vimentin ISO mRNA,protein:increased expression:vein: RGD PMID:26808710 RGD:11529441 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554 		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 ClinVar Annotator: match by term: Venous thrombosis, susceptibility to 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 ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:19486170 PMID:25741868 PMID:31064749 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 ClinVar Annotator: match by term: Deep vein thrombosis ClinVar PMID:8473507 PMID:8636415 PMID:25741868 PMID:34355501 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:28492532 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 Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:36162953 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497 		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
Ensembl chrNW_004955478:9,788,149...9,823,746 		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 mRNA:increased expression:femoral vein (rat) 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 ClinVar Annotator: match by term: Deep venous thrombosis ClinVar 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 ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 PMID:16849641 More... 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 vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:1868249 PMID:7482420 PMID:8128429 PMID:8499565 PMID:8845458 More... 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 ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:7803790 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 More... 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 ClinVar Annotator: match by term: Venous thrombosis, susceptibility to 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 ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:1483705 PMID:1555650 PMID:1977621 PMID:2336381 PMID:3472589 More... 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 16063
    disease of anatomical entity 13820
      cardiovascular system disease 4073
        vascular disease 2851
          vein disease 107
            Caroli syndrome 1
            Venous Thrombosis + 80
            esophageal varix 1
            multiple cutaneous and mucosal venous malformations 2
            phlebitis + 1
            pulmonary vein leiomyosarcoma 0
            superior vena cava angiosarcoma 0
            superior vena cava leiomyosarcoma 0
            varicose veins + 26
            venous insufficiency + 3
paths to the root