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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 chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G F5 coagulation factor V severity
disease_progression
susceptibility
ISO associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
DNA:missense mutation:cds:R506Q (human)
Factor V Leiden;DNA:missense mutation:cds:G1691A (human)
OMIM
RGD
PMID:9245936 PMID:16825912 PMID:26238013 PMID:29771426 RGD:11537993 RGD:14700660 RGD:14700661 RGD:15036813 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
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 chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827
JBrowse link
G JAK2 Janus kinase 2 ISO OMIM NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
DNA:transition: :677C>T (human)
RGD PMID:12221667 PMID:26238013 RGD:10449395 RGD:11537993 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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 chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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 chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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 chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
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 chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G SST somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337
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 chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
Lower Extremity Deep Vein Thrombosis term browser
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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 chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572
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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
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 chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:25987440 PMID:27221722 RGD:14696705 RGD:14696749 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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 chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
JBrowse link
G AQP4 aquaporin 4 ISO mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr 1:135,062,102...135,064,402 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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G F5 coagulation factor V no_association
onset
ISO associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:1691G>A (human)
DNA:missense mutation:cds:1691G>A (human)
RGD
CTD
PMID:10511031 PMID:10634550 PMID:12022286 PMID:16113792 RGD:7394767 RGD:7394773 RGD:7394778 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10342378 RGD:8655593 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:21487926 RGD:5490120 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO DNA:snp, haplotype:cds:g.807C>T (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12928694 RGD:8686430 NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:21487926 RGD:5490120 NCBI chr 1:135,391,321...135,424,100 JBrowse link
G MMP2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
susceptibility
ISO DNA:missense mutation:cds:677C>T (human)
DNA:SNP: :1298A>C(human)
DNA:SNP: :677C>T(human)
RGD PMID:10485556 PMID:23289804 PMID:24250697 RGD:10449405 RGD:10449421 RGD:7387256 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutation:cds:p.L55M (human)
protein:decreased activity:serum (human)
RGD PMID:18084236 PMID:23441121 RGD:8547547 RGD:8547555 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human)
protein:increased activity:plasma (human)
RGD PMID:15213845 PMID:16244763 RGD:8547742 RGD:8547805 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16680105 PMID:21487926 RGD:5490120 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VEGFB vascular endothelial growth factor B ISO RGD PMID:21487926 RGD:5490120 NCBI chr11:59,591,750...59,595,926 JBrowse link
thrombophlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100982859 patr class I histocompatibility antigen, B-2 alpha chain ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
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 chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G FAS Fas cell surface death receptor ISO protein:decreased expression:Leydig cell, spermatid RGD PMID:16616089 RGD:1600348 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epididymus (rat) RGD PMID:25095617 RGD:9068459 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HMOX1 heme oxygenase 1 severity ISO RGD PMID:15878918 RGD:1598403 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO mRNA:increased expression:spermatid RGD PMID:15804863 RGD:1624240 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:testis RGD PMID:16616101 RGD:2311094 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:testis RGD PMID:16616101 RGD:2311094 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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 chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G ESR2 estrogen receptor 2 ISO DNA:polymorphism:intron:(CA) dinucleotide repeat (human)
DNA:SNPs:promoter, exon
RGD PMID:16153823 PMID:18070128 RGD:1626508 RGD:8553061 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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 chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
JBrowse link
G LEPR leptin receptor ISO mRNA:decreased expression:skin RGD PMID:22773832 RGD:10412021 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G MBL2 mannose binding lectin 2 ISO protein:decreased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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 chr 1:144,182,053...144,218,632
Ensembl chr 1:147,904,337...147,938,208
JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Varicose veins ClinVar PMID:25741868
G LOC100977568 tenascin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299
JBrowse link
G LUM lumican ISO RGD PMID:15871312 RGD:1582120 NCBI chr12:88,636,825...88,644,665
Ensembl chr12:91,952,277...91,960,388
JBrowse link
G MGP matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:12175972 RGD:1582540 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16465063 RGD:1582620 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
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 chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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 chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:22119245 RGD:6903200 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:vein RGD PMID:18167211 RGD:2307053 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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 chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 ISO RGD PMID:7749835 RGD:5135275 NCBI chr 4:50,357,643...50,359,822
Ensembl chr 4:56,189,961...56,192,402
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
G DGCR8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,841,041...2,872,325
Ensembl chr22:18,518,783...18,544,740
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 PMID:17547733 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G F11 coagulation factor XI susceptibility ISO protein:increased activity:blood: RGD PMID:10706899 RGD:11041768 NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512
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 chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485
JBrowse link
G F13A1 coagulation factor XIII A chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.V34L(human)
CTD
RGD
PMID:9920839 PMID:10365735 PMID:12358922 RGD:10450745 RGD:1581032 NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961
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 chr 1:172,623,336...172,651,945
Ensembl chr 1:176,937,158...176,965,773
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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
JBrowse link
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thrombosis
associated with lupus erythematosus, systemic; DNA:polymorphism:cds:rs6025(human)
associated with Behcet Syndrome;DNA:SNP: :1691G>A (human)
DNA:mutation: :1691G>A (human)
DNA:missense mutation:cds:p.R506Q (human)
CTD
ClinVar
RGD
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 chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
JBrowse link
G F7 coagulation factor VII treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:14967414 PMID:16378835 RGD:11041650 NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15634269 PMID:16875063 RGD:1582359 NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317
JBrowse link
G FGA fibrinogen alpha chain ISO DNA:SNP: :rs6050 (human)
protein:increased expression:peripheral blood (rat)
RGD PMID:22353194 PMID:23199547 RGD:5688756 RGD:7207783 NCBI chr 4:146,949,680...146,957,291 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 chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766
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 chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,485,350...2,486,688 JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:23426106 RGD:11352755 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G HABP2 hyaluronan binding protein 2 ISO DNA:SNP: :p.G534E (rs7080536) (human) RGD PMID:22421107 RGD:11353820 NCBI chr10:110,146,311...110,182,871
Ensembl chr10:113,580,321...113,616,810
JBrowse link
G IL10 interleukin 10 susceptibility ISO RGD PMID:16807647 RGD:1598472 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:22318348 RGD:8655957 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:17651586 RGD:2311092 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:17651586 RGD:2311092 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G ITGA2 integrin subunit alpha 2 no_association ISO RGD PMID:16380674 RGD:1582295 NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720
JBrowse link
G ITGB3 integrin subunit beta 3 susceptibility ISO associated with Behcet Syndrome; DNA:polymorphism: : RGD PMID:21813062 RGD:8693342 NCBI chr17:10,134,450...10,194,596 JBrowse link
G JAK2 Janus kinase 2 no_association ISO DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)
DNA:SNP: :rs10974944 (human)
DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17059429 PMID:20434300 PMID:23845539 RGD:10449376 RGD:10449391 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26600200 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 Ensembl chr22:19,122,875...19,174,842 JBrowse link
G LOC100982214 plasminogen ISO CTD Direct Evidence: therapeutic CTD PMID:7215189 NCBI chr 6:158,662,192...158,713,413
Ensembl chr 6:163,673,464...163,736,777
JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein susceptibility ISO DNA:haplotype::rs2232354(human) RGD PMID:17413037 RGD:11528540 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 Ensembl chr22:19,192,156...19,271,965 JBrowse link
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:16171603 RGD:1582570 NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16171603 PMID:20515599 RGD:1582570 RGD:2325775 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:20515599 RGD:2325775 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16920980 PMID:20515599 RGD:1582648 RGD:2325775 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
no_association
ISO associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)
DNA:transition:cds:g.677C>T (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 chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with orthopedic surgery;DNA:SNP::rs1799983(human) RGD PMID:23922896 RGD:11533639 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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 chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,931,523...3,082,475 JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16767100 NCBI chr 1:135,378,843...135,387,789 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 chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO DNA:silent mutation, missense mutation:cds:g.66C>T, p.R147W (human)
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar Annotator: match by term: Deep vein thrombosis
DNA:missense mutation: :c.565C>T (rs146922325) (human)
DNA:missense mutations: :p.D297H, p.V420L (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Q184H (human)
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 chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625
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 chr 3:90,934,641...91,039,059
Ensembl chr 3:97,615,734...97,718,756
JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573
JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,607,363...2,616,113 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 Ensembl chr22:18,673,548...18,680,017 JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749
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 chr14:74,914,680...74,927,325
Ensembl chr14:94,248,362...94,257,835
JBrowse link
G SERPINA5 serpin family A member 5 susceptibility ISO protein:increased expression:plasma (human) RGD PMID:12139754 RGD:1580299 NCBI chr14:75,205,446...75,217,114
Ensembl chr14:94,537,115...94,548,803
JBrowse link
G SERPINC1 serpin family C member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple
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 chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369
JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,997,480...3,011,469
Ensembl chr22:19,488,733...19,502,380
JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA:increased expression:femoral vein (rat)
DNA:deletion:promoter:g.-676_-674delG (human)
RGD PMID:9535178 PMID:14653439 PMID:26535698 RGD:11060966 RGD:1580132 RGD:8547875 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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 chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886
JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,521,080...2,541,267 JBrowse link
G TBXA2R thromboxane A2 receptor treatment ISO RGD PMID:7848332 RGD:11059887 NCBI chr19:2,621,606...2,632,800
Ensembl chr19:3,570,290...3,581,924
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 chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384
JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,872,328...2,877,732
Ensembl chr22:18,544,736...18,550,174
JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497
JBrowse link
G USP41 ubiquitin specific peptidase 41 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:thrombus, vein RGD PMID:23199547 RGD:7207783 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 Ensembl chr22:18,571,565...18,581,117 JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 Ensembl chr22:19,079,769...19,094,835 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 chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13654
    disease of anatomical entity 13313
      cardiovascular system disease 3300
        vascular disease 2373
          vein disease 105
            Venous Thrombosis + 83
            esophageal varix 2
            multiple cutaneous and mucosal venous malformations 1
            phlebitis + 1
            pulmonary vein leiomyosarcoma 0
            retinal vein occlusion + 18
            superior vena cava angiosarcoma 0
            superior vena cava leiomyosarcoma 0
            varicose veins + 21
            venous insufficiency + 3
paths to the root