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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.


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 A-I ISO protein: decreased expression: plasma (human) RGD PMID:21145806 RGD:25671435 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G F5 coagulation factor V disease_progression
susceptibility
severity
ISO ClinVar Annotator: match by term: Budd-Chiari syndrome
DNA:missense mutation:cds:R506Q (human)
associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)
ClinVar Annotator: match by OMIM:600880
OMIM
ClinVar
PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749, PMID:26238013, PMID:9245936, PMID:16825912, PMID:29771426 RGD:11537993, RGD:15036813, RGD:14700661, RGD:14700660 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
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 chr19:29,321,354...29,325,318
Ensembl chr19:29,321,344...29,325,356
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Budd-Chiari syndrome
ClinVar Annotator: match by OMIM:600880
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:32581362 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
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 chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
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 treatment ISO RGD PMID:20688738 RGD:11100028 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
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 chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO protein:increased expression:saphenous vein, venous endothelial cell (human) RGD PMID:22737245 RGD:6484725 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
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 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr16:23,889,573...23,891,342
Ensembl chr16:23,889,573...23,890,958
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 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
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 chemokine (C-C motif) ligand 2 ISO associated with Behcet Syndrome;protein:increased expression:serum (human) RGD PMID:16273763 RGD:8548850 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
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 ClinVar Annotator: match by term: Multiple Cutaneous and Mucosal Venous Malformations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600195
OMIM
ClinVar
CTD
PMID:7783168 PMID:7833915 PMID:8980225 PMID:10369874 PMID:19079259 PMID:19888299 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
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 severity ISO associated with liver cirrhosis;protein:increased expression:plasma (human) RGD PMID:28465646 RGD:14985237 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G Igf1r insulin-like growth factor I receptor susceptibility ISO associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) RGD PMID:24758241 RGD:14985227 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:27221722, PMID:25987440 RGD:14696705, RGD:14696749 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
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 ISO RGD PMID:21487926 RGD:5490120 NCBI chr 6:55,336,299...55,348,555
Ensembl chr 6:55,336,432...55,348,555
JBrowse link
G Aqp4 aquaporin 4 ISO mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G F2 coagulation factor II no_association ISO DNA:SNP: :20210G>A (human) RGD PMID:22800650, PMID:14994919 RGD:7387258, RGD:7394774 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F5 coagulation factor V onset
no_association
ISO associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:1691G>A (human)
DNA:SNP:cds:1691G>A (human)
CTD PMID:12022286, PMID:10511031, PMID:16113792, PMID:10634550 RGD:7394767, RGD:7394778, RGD:7394773 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10342378 RGD:8655593 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:21487926 RGD:5490120 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO DNA:snp, haplotype:cds:g.807C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12928694, PMID:12928694 RGD:8686430 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO RGD PMID:21487926 RGD:5490120 NCBI chr 1:172,341,210...172,374,085
Ensembl chr 1:172,341,210...172,374,085
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:SNP: :677C>T(human)
DNA:missense mutation:cds:677C>T (human)
DNA:SNP: :1298A>C(human)
RGD PMID:10485556, PMID:24250697, PMID:23289804 RGD:7387256, RGD:10449421, RGD:10449405 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Nrp1 neuropilin 1 IEA MouseDO NCBI chr 8:128,358,591...128,505,476
Ensembl chr 8:128,358,604...128,503,363
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutation:cds:p.L55M (human)
protein:decreased activity:serum (human)
RGD PMID:23441121, PMID:18084236 RGD:8547547, RGD:8547555 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human)
protein:increased activity:plasma (human)
RGD PMID:16244763, PMID:15213845 RGD:8547742, RGD:8547805 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16680105, PMID:21487926 RGD:5490120 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:21487926 RGD:5490120 NCBI chr19:6,982,472...6,987,651
Ensembl chr19:6,982,473...6,987,651
JBrowse link
thrombophlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-M2 histocompatibility 2, M region locus 2 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr17:35,379,617...35,384,674
Ensembl chr17:35,379,617...35,385,290
JBrowse link
G Mir223 microRNA 223 ISO RGD PMID:32141571 RGD:26884338 NCBI chr  X:96,242,817...96,242,926
Ensembl chr  X:96,242,817...96,242,926
JBrowse link
G Pros1 protein S (alpha) ISO RGD PMID:12907438 RGD:1578677 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
varicocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp3 caspase 3 ISO protein:increased expression:testis RGD PMID:19145435 RGD:2311432 NCBI chr 8:46,617,291...46,639,698
Ensembl chr 8:46,617,291...46,639,689
JBrowse link
G Casp9 caspase 9 ISO protein:increased expression:testis RGD PMID:19145435 RGD:2311432 NCBI chr 4:141,793,612...141,815,978
Ensembl chr 4:141,793,612...141,815,976
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO protein:decreased expression:Leydig cell, spermatid RGD PMID:16616089 RGD:1600348 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:epididymus (rat) RGD PMID:25095617 RGD:9068459 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hmox1 heme oxygenase 1 severity ISO RGD PMID:15878918 RGD:1598403 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO mRNA:increased expression:spermatid RGD PMID:15804863 RGD:1624240 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:testis RGD PMID:16616101 RGD:2311094 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:testis RGD PMID:16616101 RGD:2311094 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
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 (alpha) no_association ISO RGD PMID:16153823 RGD:1626508 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO DNA:polymorphism:intron:(CA) dinucleotide repeat (human)
DNA:SNPs:promoter, exon
RGD PMID:16153823, PMID:18070128 RGD:1626508, RGD:8553061 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
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 chr13:23,702,034...23,710,854
Ensembl chr13:23,702,034...23,710,854
JBrowse link
G Lepr leptin receptor ISO mRNA:decreased expression:skin RGD PMID:22773832 RGD:10412021 NCBI chr 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO protein:decreased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Mir21a microRNA 21a ISO miRNA:increased expression:skin: RGD PMID:22773832 RGD:10412021 NCBI chr11:86,584,067...86,584,158
Ensembl chr11:86,584,067...86,584,158
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 1:164,796,663...164,824,274
Ensembl chr 1:164,796,644...164,824,266
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Varicose veins ClinVar PMID:25741868 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Lum lumican ISO RGD PMID:15871312 RGD:1582120 NCBI chr10:97,565,501...97,572,703
Ensembl chr10:97,565,128...97,572,703
JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr 6:136,872,435...136,875,823
Ensembl chr 6:136,872,435...136,875,823
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:12175972 RGD:1582540 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO RGD PMID:12175972 RGD:1582540 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16465063 RGD:1582620 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr  X:20,870,166...20,874,737
Ensembl chr  X:20,870,166...20,874,735
JBrowse link
G Tnc tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr 4:63,959,785...64,047,015
Ensembl chr 4:63,959,785...64,047,015
JBrowse link
venous insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO associated with Behcet Syndrome;DNA:deletion:cds (human) RGD PMID:22766250 RGD:7794848 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO associated with Venous Thrombosis; RGD PMID:25495610 RGD:11054206 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
Venous Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 treatment ISO RGD PMID:21095090 RGD:10449099 NCBI chr 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Apoe apolipoprotein E IMP RGD PMID:22119245 RGD:6903200 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,348,182...18,407,076
Ensembl chr16:18,348,182...18,407,076
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:vein RGD PMID:18167211 RGD:2307053 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO DNA:polymorphism: :324G>A
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar PMID:25741868 PMID:31064749, PMID:18064318 RGD:2289709 NCBI chr16:18,406,882...18,426,716
Ensembl chr16:18,406,886...18,426,852
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chr11:54,247,270...54,249,899
Ensembl chr11:54,247,271...54,249,667
JBrowse link
G Cxcl5 chemokine (C-X-C motif) ligand 5 ISO RGD PMID:7749835 RGD:5135275 NCBI chr 5:90,759,298...90,761,625
Ensembl chr 5:90,759,360...90,761,624
JBrowse link
G Dgcr8 DGCR8, microprocessor complex subunit ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,253,948...18,289,251
Ensembl chr16:18,253,948...18,289,246
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 PMID:17547733 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G F11 coagulation factor XI susceptibility ISO protein:increased activity:blood: RGD PMID:10706899 RGD:11041768 NCBI chr 8:45,240,659...45,262,055
Ensembl chr 8:45,241,174...45,262,031
JBrowse link
G F12 coagulation factor XII (Hageman factor) susceptibility ISO DNA:polymorphism::46C>T(human)
associated with Pregnancy Complications; DNA:polymorphism::46C>T(human)
RGD PMID:15116249, PMID:20141580 RGD:11041808, RGD:11041858 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G F13a1 coagulation factor XIII, A1 subunit susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.V34L(human)
CTD PMID:10365735, PMID:9920839, PMID:12358922 RGD:1581032, RGD:10450745 NCBI chr13:36,867,178...37,050,244
Ensembl chr13:36,867,178...37,050,244
JBrowse link
G F13b coagulation factor XIII, beta subunit 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 1:139,501,547...139,523,758
Ensembl chr 1:139,501,702...139,523,752
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:9869612 PMID:12296757 PMID:19920886, PMID:9409269, PMID:23535565 RGD:1580342, RGD:10449430 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F3 coagulation factor III ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (human)
ClinVar Annotator: match by term: Venous thrombosis
CTD Direct Evidence: marker/mechanism
DNA:mutation: :1691G>A (human)
associated with Behcet Syndrome;DNA:SNP: :1691G>A (human)
associated with lupus erythematosus, systemic; DNA:polymorphism:cds:rs6025(human)
ClinVar
CTD
PMID:12296757 PMID:12827938 PMID:12865888 PMID:15033664 PMID:16875063 PMID:19486170 PMID:25741868 PMID:31064749, PMID:9293873, PMID:9836759, PMID:8948311, PMID:22707612 RGD:6893601, RGD:7394779, RGD:7394762, RGD:6893602 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G F7 coagulation factor VII treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414, PMID:16378835 RGD:11041650 NCBI chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16875063, PMID:15634269 RGD:1582359 NCBI chr  X:75,170,344...75,382,738
Ensembl chr  X:75,172,715...75,382,615
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 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
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 3:83,042,246...83,049,863
Ensembl chr 3:83,040,141...83,049,863
JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 1-like ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,497,386...18,566,680
Ensembl chr16:18,498,713...18,566,679
JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,620,319...18,622,403
Ensembl chr16:18,620,317...18,622,403
JBrowse link
G Gpx1 glutathione peroxidase 1 IMP RGD PMID:23426106 RGD:11352755 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Habp2 hyaluronic acid binding protein 2 ISO DNA:SNP: :p.G534E (rs7080536) (human) RGD PMID:22421107 RGD:11353820 NCBI chr19:56,287,109...56,320,820
Ensembl chr19:56,287,137...56,320,822
JBrowse link
G Hp haptoglobin ISO associated with Pulmonary Embolism;protein:increased expression:serum RGD PMID:17203959 RGD:1626365 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Il10 interleukin 10 susceptibility ISO RGD PMID:16807647 RGD:1598472 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:22318348 RGD:8655957 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:17651586 RGD:2311092 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:17651586 RGD:2311092 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:haplotype::rs2232354(human) RGD PMID:17413037 RGD:11528540 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Itga2 integrin alpha 2 no_association ISO RGD PMID:16380674 RGD:1582295 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Itgb3 integrin beta 3 susceptibility ISO associated with Behcet Syndrome; DNA:polymorphism: : RGD PMID:21813062 RGD:8693342 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Jak2 Janus kinase 2 no_association ISO DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)
CTD Direct Evidence: marker/mechanism
DNA:mutation: :p.V617F (human)
DNA:SNP: :rs10974944 (human)
CTD PMID:20434300, PMID:23845539, PMID:17059429, PMID:23845539 RGD:10449376, RGD:10449391, RGD:10449376 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Kdr kinase insert domain protein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26600200 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Klhl22 kelch-like 22 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,759,621...17,793,382
Ensembl chr16:17,759,618...17,793,382
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,651,208...17,722,947
Ensembl chr16:17,651,208...17,732,891
JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) IDA RGD PMID:16171603 RGD:1582570 NCBI chr14:54,431,598...54,442,456
Ensembl chr14:54,431,612...54,445,364
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:20515599, PMID:16171603 RGD:2325775, RGD:1582570 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:20515599 RGD:2325775 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP
IDA
RGD PMID:20515599, PMID:16920980 RGD:2325775, RGD:1582648 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility
ISO DNA:transition:cds:g.677C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:transition: :677C>T (human)
associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)
CTD PMID:19123085, PMID:10929044, PMID:12442281, PMID:10792297, PMID:22707612 RGD:1580590, RGD:10449394, RGD:6893655, RGD:6893602 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO associated with orthopedic surgery;DNA:SNP::rs1799983(human) RGD PMID:23922896 RGD:11533639 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.L125V (human) RGD PMID:25846278 RGD:11541089 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,280,351...17,406,314
Ensembl chr16:17,280,351...17,406,314
JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16767100 NCBI chr 1:172,376,531...172,384,099
Ensembl chr 1:172,376,546...172,384,099
JBrowse link
G Plat plasminogen activator, tissue 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 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3161212 PMID:3488869 PMID:6359570 PMID:15557913 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: therapeutic CTD PMID:7215189 NCBI chr17:12,378,609...12,419,384
Ensembl chr17:12,378,608...12,419,385
JBrowse link
G Proc protein C ISO
IMP
DNA:missense mutation:cds:p.Q184H (human)
ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar Annotator: match by term: Deep vein thrombosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :c.565C>T (rs146922325) (human)
DNA:missense mutations: :p.D297H, p.V420L (human)
DNA:silent mutation, missense mutation:cds:g.66C>T, p.R147W (human)
ClinVar
CTD
PMID:1868249 PMID:8128429 PMID:8499565 PMID:12730085 PMID:17152060 PMID:25741868 PMID:25748729 PMID:28492532 PMID:31064749, PMID:8400292, PMID:10936861, PMID:22545135, PMID:25748729, PMID:23550037, PMID:15114590 RGD:1578515, RGD:11100014, RGD:11099990, RGD:11099989, RGD:11035247, RGD:1578391 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Pros1 protein S (alpha) ISO DNA:missense mutation:cds:p.G295V (human)
ClinVar Annotator: match by term: Deep vein thrombosis
ClinVar PMID:7803790 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 PMID:28492532 PMID:31064749, PMID:9424998 RGD:9743896 NCBI chr16:62,854,307...62,929,346
Ensembl chr16:62,854,307...62,929,346
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,239,979...18,248,694
Ensembl chr16:18,239,784...18,248,732
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,127,642...18,152,408
Ensembl chr16:18,127,642...18,152,408
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 chr16:17,797,282...17,808,294
Ensembl chr16:17,797,282...17,808,293
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,621,811...18,629,938
Ensembl chr16:18,620,502...18,629,954
JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thrombosis, susceptibility to
CTD
ClinVar
PMID:15461625 NCBI chr12:103,616,675...103,631,490
Ensembl chr12:103,614,786...103,631,444
JBrowse link
G Serpina5 serine (or cysteine) peptidase inhibitor, clade A, member 5 susceptibility ISO protein:increased expression:plasma (human) RGD PMID:12139754 RGD:1580299 NCBI chr12:104,099,313...104,106,138
Ensembl chr12:104,101,113...104,106,137
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 IMP
ISO
ClinVar Annotator: match by term: Deep venous thrombosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple
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:24072242 PMID:24158114 PMID:25741868 PMID:26748602 PMID:28492532 PMID:29215785 PMID:31064749, PMID:23550037, PMID:23932013 RGD:11035247, RGD:11035248 NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Serpind1 serine (or cysteine) peptidase inhibitor, clade D, member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:17,331,371...17,343,574
Ensembl chr16:17,331,371...17,343,575
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO DNA:deletion:promoter:g.-676_-674delG (human)
mRNA:increased expression:femoral vein (rat)
RGD PMID:14653439, PMID:26535698, PMID:9535178 RGD:1580132, RGD:11060966, RGD:8547875 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,300,825...18,348,098
Ensembl chr16:18,300,825...18,348,103
JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,580,979...18,590,671
Ensembl chr16:18,580,979...18,590,671
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:7848332 RGD:11059887 NCBI chr10:81,328,268...81,335,174
Ensembl chr10:81,328,731...81,335,172
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO
IMP
protein:increased expression:plasma:
CTD Direct Evidence: therapeutic
CTD PMID:18480984, PMID:18600090, PMID:17973652, PMID:12560220 RGD:11060130, RGD:11060257, RGD:11060137 NCBI chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
JBrowse link
G Trmt2a TRM2 tRNA methyltransferase 2A ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,248,847...18,254,772
Ensembl chr16:18,248,679...18,254,772
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,426,417...18,479,073
Ensembl chr16:18,426,384...18,479,073
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:thrombus, vein RGD PMID:23199547 RGD:7207783 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Zdhhc8 zinc finger, DHHC domain containing 8 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr16:18,220,748...18,235,153
Ensembl chr16:18,220,753...18,235,136
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 alpha 2 no_association ISO DNA:snp:cds:g.807C>T (human) RGD PMID:16157382 RGD:1582301 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14274
    disease of anatomical entity 13874
      cardiovascular system disease 3584
        vascular disease 2591
          vein disease 110
            Venous Thrombosis + 84
            esophageal varix 2
            multiple cutaneous and mucosal venous malformations 1
            phlebitis + 4
            pulmonary vein leiomyosarcoma 0
            retinal vein occlusion + 19
            superior vena cava angiosarcoma 0
            superior vena cava leiomyosarcoma 0
            varicose veins + 24
            venous insufficiency + 4
paths to the root