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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 ISO DNA:polymorphism:: RGD PMID:15735796 RGD:11100013 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:10937809 RGD:11038826 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G B3GAT2 beta-1,3-glucuronyltransferase 2 ISO DNA:SNPs: :rs1304029,rs2748331(human) RGD PMID:28011674 RGD:14390077 NCBI chr 1:50,941,967...51,041,586
Ensembl chr 1:50,938,250...51,041,584
JBrowse link
G CD46 CD46 molecule, complement regulatory protein severity ISO protein:increased expression:plasma (human) RGD PMID:25684211 RGD:11352815 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Venous thromboembolism ClinVar PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F5 coagulation factor V disease_progression ISO DNA:SNP: :rs6025(human)
DNA:mutation: :1691G>A (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7500743 PMID:9149031 PMID:25665832 PMID:26245493 RGD:10449100 RGD:11536892 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G FGA fibrinogen alpha chain ISO ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to ClinVar PMID:10910940 PMID:16362348 PMID:25741868 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
JBrowse link
G HABP2 hyaluronan binding protein 2 disease_progression ISO DNA:SNP: :p.G534E (rs7080536) (human)
ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to
RGD
ClinVar
PMID:12138371 PMID:12578864 PMID:15486068 PMID:22421107 PMID:26222560 More... RGD:11353820 NCBI chr14:123,893,990...123,929,445
Ensembl chr14:123,893,989...123,932,962
JBrowse link
G KNG1 kininogen 1 ISO DNA:SNP: :rs710446 (human) RGD PMID:25472531 RGD:11059890 NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,277...124,557,376
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :677C>T (human)
DNA:SNP: :677C>T, 1298A>C (human)
RGD PMID:25207100 RGD:10449399 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16167916 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:9149031 PMID:11434940 PMID:21445774 PMID:24162787 RGD:11099984 RGD:11099988 NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,032,622...25,056,595
JBrowse link
G PROS1 protein S ISO RGD PMID:11434940 PMID:26466767 RGD:11099984 RGD:11251678 NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
JBrowse link
G SELP selectin P ISO associated with HIV Infections;protein:increased expression:plasma RGD PMID:21412059 RGD:6219001 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,406,203
JBrowse link
G SERPINC1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:453287 NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,980...116,193,201
JBrowse link
G SERPIND1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,416,309...50,436,470
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human) RGD PMID:17549286 RGD:8547715 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G TFPI tissue factor pathway inhibitor ISO RGD PMID:14691572 RGD:11060266 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473048 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VWF von Willebrand factor ISO associated with Glomerulosclerosis, Focal Segmental RGD PMID:22295953 RGD:7207031 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
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 chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14378
    disease of anatomical entity 14096
      cardiovascular system disease 3709
        vascular disease 2649
          Embolism and Thrombosis 152
            Thromboembolism 41
              Venous Thromboembolism 21
                Portal Vein Obstruction + 1
paths to the root