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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:Thromboembolism
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Accession:DOID:9003121 term browser browse the term
Definition:Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream.
Synonyms:exact_synonym: Thromboembolisms
 primary_id: MESH:D013923


show annotations for term's descendants           Sort by:
Thromboembolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPB2 carboxypeptidase B2 IEP RGD PMID:14739223 RGD:1598476 NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033 		JBrowse link
G F12 coagulation factor XII ISO
EXP
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16009717 PMID:16009717 PMID:16009717 RGD:11041771, RGD:11041771 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583 		JBrowse link
G F2 coagulation factor II, thrombin IAGP
IEP
EXP		 associated with infective endocarditis;protein:increased expression:blood plasma (human)
CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:polymorphism: :20210G>A(human)		 CTD
RGD		 PMID:14693181 PMID:11471205 PMID:15049384 PMID:21955693 RGD:1580340, RGD:40819860, RGD:6893596 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F3 coagulation factor III, tissue factor IDA RGD PMID:24402608 RGD:11341738 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759 		JBrowse link
G F5 coagulation factor V IAGP
EXP		 ClinVar Annotator: match by term: Thromboembolism
CTD Direct Evidence: marker/mechanism
associated with coronary artery disease; DNA:mutation: :		 ClinVar
CTD
RGD		 PMID:14693181 PMID:19486170 PMID:20554945 PMID:25741868 PMID:28492532 More... RGD:1580340, RGD:6893596 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G F7 coagulation factor VII EXP CTD Direct Evidence: marker/mechanism CTD PMID:20172985 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G F8 coagulation factor VIII IDA RGD PMID:15634269 RGD:1582359 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FGG fibrinogen gamma chain IAGP ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G GAS6 growth arrest specific 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16564713 NCBI chr13:113,820,549...113,864,076
Ensembl chr13:113,820,549...113,864,076 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GSN gelsolin ameliorates IMP human gene in mouse model RGD PMID:31002695 RGD:329333020 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G JAK2 Janus kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G LPA lipoprotein(a) EXP CTD Direct Evidence: marker/mechanism CTD PMID:9164807 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275 		JBrowse link
G MERTK MER proto-oncogene, tyrosine kinase EXP CTD Direct Evidence: therapeutic CTD PMID:17047157 NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP DNA:repeats:intron RGD PMID:10531147 RGD:5128481 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: therapeutic CTD PMID:8451030 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:3718210 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP
EXP		 ClinVar Annotator: match by term: Thromboembolism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1868249 PMID:7482420 PMID:8052960 PMID:8093743 PMID:8845458 More... RGD:1578517 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242 		JBrowse link
G PROS1 protein S EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thromboembolism		 CTD
ClinVar		 PMID:8052960 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G PROZ protein Z, vitamin K dependent plasma glycoprotein IDA
IEP		 protein:decreased expression:plasma RGD PMID:12970515 PMID:12297123 RGD:1580693, RGD:1580720 NCBI chr13:113,158,648...113,172,386
Ensembl chr13:113,158,648...113,172,386 		JBrowse link
G SERPINC1 serpin family C member 1 IAGP ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:1483705 PMID:1977621 PMID:3472589 PMID:25741868 PMID:28492532 More... NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
G THBD thrombomodulin treatment IDA RGD PMID:24098750 RGD:11038685 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
carotid artery thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor IEP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:17969370 RGD:2313859 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G ITGA2B integrin subunit alpha 2b EXP CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G KLKB1 kallikrein B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471 		JBrowse link
G SERPIND1 serpin family D member 1 EXP CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720 		JBrowse link
G STXBP2 syntaxin binding protein 2 EXP CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G THBD thrombomodulin IMP RGD PMID:21885846 RGD:5684980 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260 		JBrowse link
cerebral venous thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Cerebral venous thrombosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G GPX3 glutathione peroxidase 3 no_association IAGP DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) RGD PMID:18096833 PMID:19095977 RGD:401827161, RGD:401827164 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		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
intracranial embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KL klotho susceptibility IAGP DNA:polymorphism:promoter:-395G>A(human) RGD PMID:16973281 RGD:10403059 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
Intracranial Embolism and Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: therapeutic CTD PMID:7482654 PMID:8427107 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
intracranial sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12269725 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G GPX3 glutathione peroxidase 3 no_association IAGP DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human) RGD PMID:20946167 RGD:401827165 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
intracranial thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: therapeutic CTD PMID:8678742 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G SERPINC1 serpin family C member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
G VWF von Willebrand factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
sagittal sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V EXP CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PROS1 protein S EXP CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
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
ClinVar Annotator: match by term: Venous thromboembolism
CTD Direct Evidence: marker/mechanism
DNA:mutation: :20210G>A (human)		 ClinVar
CTD
RGD		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 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)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs6025(human)		 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 4:154,583,126...154,590,742 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase sexual_dimorphism IAGP DNA:SNP: :rs9939609 (human)
DNA:SNP: :rs1558902 (human)		 RGD PMID:29325734 PMID:28528403 RGD:329812019, RGD:329901775 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G GP6 glycoprotein VI platelet no_association IAGP associated with sticky platelet syndrome;DNA:SNPs:exon, intron: (rs1613662, rs1654419) (human)
DNA:SNP:exon: (rs1613662) (human)		 RGD PMID:22821001 PMID:19278955 PMID:23150947 RGD:401794137, RGD:401794563, RGD:401794562 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		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 MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Venous thromboembolism ClinVar NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Venous thromboembolism ClinVar PMID:25741868 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Venous thromboembolism ClinVar NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP ClinVar Annotator: match by term: Venous thromboembolism ClinVar NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		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 VKORC1 vitamin K epoxide reductase complex subunit 1 IAGP ClinVar Annotator: match by term: Venous thromboembolism ClinVar PMID:15883587 PMID:15888487 PMID:15930419 PMID:15947090 PMID:16580898 More... NCBI chr16:31,090,854...31,094,797
Ensembl chr16:31,090,842...31,095,980 		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
G ZFPM2 zinc finger protein, FOG family member 2 susceptibility IAGP DNA:SNP: :rs4602861(human) RGD PMID:28373160 RGD:155882487 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      cardiovascular system disease 6065
        vascular disease 3857
          Embolism and Thrombosis 183
            Thromboembolism 53
              Intracranial Embolism and Thrombosis + 21
              Paradoxical Embolism 0
              Venous Thromboembolism + 30
paths to the root