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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:Venous Thromboembolism
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Accession:DOID:9003505 term browser browse the term
Definition:Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream.
Synonyms:exact_synonym: VTE
 related_synonym: VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST;   Venous thromboembolism, susceptibility to
 primary_id: MESH:D054556;   RDO:0007682
For additional species annotation, visit the Alliance of Genome Resources.



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Venous Thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility IAGP DNA:polymorphism:: RGD PMID:15735796 RGD:11100013 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024
JBrowse link
G ACE angiotensin I converting enzyme susceptibility IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 IAGP DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chr 6:70,856,679...70,957,060
Ensembl chr 6:70,856,679...70,957,060
JBrowse link
G CD46 CD46 molecule severity IEP protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G F2 coagulation factor II, thrombin IEP
IAGP
EXP
associated with Neoplasms
DNA:mutation: :20210G>A (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thromboembolism
CTD
ClinVar
RGD
PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... RGD:5147763, RGD:10449100 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V disease_progression IAGP
EXP
DNA:mutation: :1691G>A (human)
DNA:SNP: :rs6025(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493 RGD:10449100, RGD:11536892 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FGA fibrinogen alpha chain EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to
CTD
ClinVar
PMID:10910940 PMID:16362348 PMID:25741868 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G HABP2 hyaluronan binding protein 2 disease_progression IAGP DNA:SNP: :p.G534E (rs7080536) (human)
ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to
ClinVar
RGD
PMID:12138371 PMID:12578864 PMID:15486068 PMID:26222560 PMID:26581001 More... RGD:11353820 NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
JBrowse link
G KNG1 kininogen 1 IAGP DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
JBrowse link
G LPA lipoprotein(a) no_association IEP protein:increased expression:plasma RGD PMID:14656611 PMID:16643992 RGD:5509908, RGD:5509909 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association IAGP DNA:SNP: :677C>T (human)
DNA:SNP: :677C>T, 1298A>C (human)
RGD PMID:25207100 PMID:25207100 RGD:10449399, RGD:10449399 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:9149031 PMID:21445774 PMID:11434940 PMID:24162787 RGD:11099984, RGD:11099988 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G PROS1 protein S IAGP RGD PMID:11434940 PMID:26466767 RGD:11099984, RGD:11251678 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G SELP selectin P IEP associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
G SERPINC1 serpin family C member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G SERPIND1 serpin family D member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G TFPI tissue factor pathway inhibitor IDA RGD PMID:14691572 RGD:11060266 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VWF von Willebrand factor IEP associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
Extrahepatic Portal Vein Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F7 coagulation factor VII ISO mRNA:altered expression:liver (rat) RGD PMID:17660074 RGD:2312312 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22046
    disease of anatomical entity 20604
      cardiovascular system disease 4510
        vascular disease 3122
          Embolism and Thrombosis 169
            Thromboembolism 43
              Venous Thromboembolism 22
                Portal Vein Obstruction + 1
paths to the root