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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 A1 ISO protein: decreased expression: plasma (human) RGD PMID:21145806 RGD:25671435 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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 chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:7981691, PMID:10862079, PMID:11931672, PMID:15456489, PMID:15735798, PMID:18282149, PMID:22180436, PMID:25582404, PMID:25741868, PMID:30311386, PMID:31064749 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
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 chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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 chr10:94,850,971...94,913,202 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 chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:1385068 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
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 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
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 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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 chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: :677C>T(human) RGD PMID:27221722, PMID:25987440 RGD:14696705, RGD:14696749 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:25987440 RGD:14696749 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aqp4 aquaporin 4 IEP mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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 chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:10342378 RGD:8655593 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2 integrin subunit 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 chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:21487926 RGD:5490120 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nrp1 neuropilin 1 ISS MouseDO NCBI chr19:61,332,351...61,486,166
Ensembl chr19:61,332,351...61,485,858
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 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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:16244763, PMID:15213845 RGD:8547742, RGD:8547805 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16680105, PMID:21487926 RGD:5490120 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vegfb vascular endothelial growth factor B IEP RGD PMID:21487926 RGD:5490120 NCBI chr 1:222,237,000...222,242,786
Ensembl chr 1:222,239,022...222,242,644
JBrowse link
thrombophlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir223 microRNA 223 IMP RGD PMID:32141571 RGD:26884338 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Pros1 protein S ISO RGD PMID:12907438 RGD:1578677 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924
varicocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp9 caspase 9 IEP protein:increased expression:testis RGD PMID:19145435 RGD:2311432 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Fas Fas cell surface death receptor IEP protein:decreased expression:Leydig cell, spermatid RGD PMID:16616089 RGD:1600348 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:epididymus (rat) RGD PMID:25095617 RGD:9068459 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmox1 heme oxygenase 1 severity ISO RGD PMID:15878918 RGD:1598403 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP mRNA:increased expression:spermatid RGD PMID:15804863 RGD:1624240 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Il1a interleukin 1 alpha IEP protein:increased expression:testis RGD PMID:16616101 RGD:2311094 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:testis RGD PMID:16616101 RGD:2311094 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 RGD PMID:16153823 RGD:1626508 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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 chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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 chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Lepr leptin receptor ISO mRNA:decreased expression:skin RGD PMID:22773832 RGD:10412021 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:decreased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir21 microRNA 21 ISO miRNA:increased expression:skin: RGD PMID:22773832 RGD:10412021 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
varicose veins term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Varicose veins ClinVar PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Dpt dermatopontin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr13:83,073,307...83,102,404
Ensembl chr13:83,073,544...83,102,401
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Varicose veins ClinVar PMID:25741868 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Lum lumican ISO RGD PMID:15871312 RGD:1582120 NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:12175972 RGD:1582540 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16465063 RGD:1582620 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tnc tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643059 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO associated with Venous Thrombosis; RGD PMID:25495610 RGD:11054206 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 IDA RGD PMID:21095090 RGD:10449099 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22119245 RGD:6903200 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:vein RGD PMID:18167211 RGD:2307053 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 IEP RGD PMID:7749835 RGD:5135275 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338, PMID:17547733 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F11 coagulation factor XI susceptibility ISO protein:increased activity:blood: RGD PMID:10706899 RGD:11041768 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G F12 coagulation factor XII susceptibility ISO DNA:polymorphism::46C>T(human)
associated with Pregnancy Complications; DNA:polymorphism::46C>T(human)
RGD PMID:15116249, PMID:20141580 RGD:11041808, RGD:11041858 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F13a1 coagulation factor XIII A1 chain 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 chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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 chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
JBrowse link
G F2 coagulation factor II ISO
IMP
ClinVar Annotator: match by term: Venous thrombosis
ClinVar Annotator: match by term: VENOUS THROMBOSIS
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2222810, PMID:2429850, PMID:6305407, PMID:6405779, PMID:8696333, PMID:8896550, PMID:8916933, PMID:9106528, PMID:9292507, PMID:9462220, PMID:9493607, PMID:9531249, PMID:9569177, PMID:9694698, PMID:9869612, PMID:10027711, PMID:10233438, PMID:10233439, PMID:10336270, PMID:10348710, PMID:10348711, PMID:10348712, PMID:10406905, PMID:10477778, PMID:10544935, PMID:11358905, PMID:11443298, PMID:11506076, PMID:11796466, PMID:11874997, PMID:11904676, PMID:12296757, PMID:15059842, PMID:15534175, PMID:16493002, PMID:19159930, PMID:19289024, PMID:19531787, PMID:19554541, PMID:19560233, PMID:19652888, PMID:19920886, PMID:20301327, PMID:21243428, PMID:21349849, PMID:22716977, PMID:23429074, PMID:24033266, PMID:25741868, PMID:27031503, PMID:28492532, PMID:30311386, PMID:9409269, PMID:23535565 RGD:1580342, RGD:10449430 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14967414 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (human)
ClinVar Annotator: match by term: Venous thrombosis
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:11950065, PMID:12296757, PMID:12816860, PMID:12827938, PMID:12865888, PMID:15033664, PMID:16246256, PMID:16875063, PMID:19486170, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31064749, PMID:9293873, PMID:9836759, PMID:8948311, PMID:22707612 RGD:6893601, RGD:7394779, RGD:7394762, RGD:6893602 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G F7 coagulation factor VII treatment IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:14967414, PMID:16378835 RGD:11041650 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16875063, PMID:15634269 RGD:1582359 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fga fibrinogen alpha chain ISO
IEP
DNA:SNP: :rs6050 (human)
protein:increased expression:peripheral blood (rat)
RGD PMID:22353194, PMID:23199547 RGD:5688756, RGD:7207783 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
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 chr11:86,575,229...86,655,614
Ensembl chr11:86,577,339...86,655,602
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:23426106 RGD:11352755 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Habp2 hyaluronan binding protein 2 ISO DNA:SNP: :p.G534E (rs7080536) (human) RGD PMID:22421107 RGD:11353820 NCBI chr 1:277,068,715...277,104,567
Ensembl chr 1:277,068,761...277,104,566
JBrowse link
G Hp haptoglobin ISO associated with Pulmonary Embolism;protein:increased expression:serum RGD PMID:17203959 RGD:1626365 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il10 interleukin 10 susceptibility ISO RGD PMID:16807647 RGD:1598472 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 IEP protein:increased expression:serum RGD PMID:22318348 RGD:8655957 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:17651586 RGD:2311092 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta IEP RGD PMID:17651586 RGD:2311092 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:haplotype::rs2232354(human) RGD PMID:17413037 RGD:11528540 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itga2 integrin subunit alpha 2 no_association ISO RGD PMID:16380674 RGD:1582295 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itgb3 integrin subunit beta 3 susceptibility ISO associated with Behcet Syndrome; DNA:polymorphism: : RGD PMID:21813062 RGD:8693342 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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 chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26600200 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:87,646,489...87,718,808
Ensembl chr11:87,677,966...87,718,826
JBrowse link
G LOC102548901 protein Bop-like ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr12:6,230,524...6,231,398 JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:87,553,868...87,628,631
Ensembl chr11:87,553,868...87,628,502
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16171603 RGD:1582570 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP
IDA
RGD PMID:20515599, PMID:16171603 RGD:2325775, RGD:1582570 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP RGD PMID:20515599 RGD:2325775 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP
ISO
RGD PMID:20515599, PMID:16920980 RGD:2325775, RGD:1582648 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility
ISO DNA:transition:cds:g.677C>T (human)
ClinVar Annotator: match by term: Venous thrombosis
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)
ClinVar
CTD
PMID:1522835, PMID:7564788, PMID:7647779, PMID:7741859, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10732818, PMID:10869114, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18523009, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19123085, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25741868, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28492532, PMID:28696419, PMID:29683944, PMID:30311386, PMID:10929044, PMID:12442281, PMID:10792297, PMID:22707612 RGD:1580590, RGD:10449394, RGD:6893655, RGD:6893602 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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 chr10:94,850,971...94,913,202 JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16767100 NCBI chr13:90,759,260...90,762,957
Ensembl chr13:90,759,260...90,762,957
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 chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:3161212, PMID:3488869, PMID:6359570, PMID:15557913 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: therapeutic CTD PMID:7215189 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO 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 chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Pros1 protein S 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 chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,992,665...87,017,091
Ensembl chr11:86,992,399...87,017,115
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 chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
JBrowse link
G Serpina10 serpin family A member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thrombosis, susceptibility to
CTD
ClinVar
PMID:15461625 NCBI chr 6:127,500,014...127,508,470
Ensembl chr 6:127,500,016...127,508,452
JBrowse link
G Serpina5 serpin family A member 5 susceptibility ISO protein:increased expression:plasma (human) RGD PMID:12139754 RGD:1580299 NCBI chr 6:127,753,152...127,772,403
Ensembl chr 6:127,766,470...127,772,420
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
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 chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
G Serpine1 serpin family E member 1 ISO
IEP
IMP
DNA:deletion:promoter:g.-676_-674delG (human)
mRNA:increased expression:femoral vein (rat)
RGD PMID:14653439, PMID:26535698, PMID:9535178 RGD:1580132, RGD:11060966, RGD:8547875 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment IMP RGD PMID:7848332 RGD:11059887 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO 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 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,885,671...86,890,482
Ensembl chr11:86,885,626...86,890,390
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:thrombus, vein RGD PMID:23199547 RGD:7207783 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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 chr11:86,903,122...86,917,261
Ensembl chr11:86,903,122...86,915,715
JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868, PMID:31064749 NCBI chr 1:70,244,828...70,268,289
Ensembl chr 1:70,253,650...70,266,809
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 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        vascular disease 3414
          vein disease 111
            Venous Thrombosis + 85
            esophageal varix 2
            multiple cutaneous and mucosal venous malformations 1
            phlebitis + 3
            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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.