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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal thrombosis
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Accession:HP:0001977 term browser browse the term
Definition:Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Synonyms:exact_synonym: Abnormal blood clot;   Abnormal blood clotting
 xref: UMLS:C4025731



show annotations for term's descendants           Sort by:
 
Abnormal thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ClinVar Annotator: match by term: Abnormal thrombosis ClinVar PMID:32581362 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP OMIM:178600 HPO NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP OMIM:167800 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CTRC chymotrypsin C IAGP OMIM:167800 HPO NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
JBrowse link
G DHFR2 dihydrofolate reductase 2 IAGP ClinVar Annotator: match by term: Abnormal thrombosis ClinVar PMID:32581362 NCBI chr 3:94,057,922...94,063,320
Ensembl chr 3:94,047,836...94,063,389
JBrowse link
G JAK2 Janus kinase 2 IAGP OMIM:263300 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G MPI mannose phosphate isomerase IAGP OMIM:602579 HPO NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219
JBrowse link
G MYH9 myosin heavy chain 9 IAGP OMIM:155100 HPO NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G NSUN3 NOP2/Sun RNA methyltransferase 3 IAGP ClinVar Annotator: match by term: Abnormal thrombosis ClinVar PMID:32581362 NCBI chr 3:94,063,061...94,131,832
Ensembl chr 3:94,062,980...94,131,832
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP ClinVar Annotator: match by term: Abnormal thrombosis ClinVar PMID:1347706 PMID:24796542 PMID:25741868 PMID:31064749 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 ClinVar Annotator: match by term: Abnormal thrombosis ClinVar PMID:25741868 PMID:31064749 PMID:32581362 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G PRSS1 serine protease 1 IAGP OMIM:167800 HPO NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072
JBrowse link
G PRSS2 serine protease 2 IAGP OMIM:167800 HPO NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
JBrowse link
G RFT1 RFT1 homolog IAGP ORPHA:244310 HPO NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453
JBrowse link
G RHAG Rh associated glycoprotein IAGP ORPHA:3203 HPO NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839
JBrowse link
G SERPINC1 serpin family C member 1 IAGP ClinVar Annotator: match by term: Abnormal thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP OMIM:208050 HPO NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP OMIM:167800 HPO NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
JBrowse link
G STX19 syntaxin 19 IAGP ClinVar Annotator: match by term: Abnormal thrombosis ClinVar PMID:32581362 NCBI chr 3:94,014,365...94,028,597
Ensembl chr 3:94,014,365...94,028,597
JBrowse link
G THBD thrombomodulin IAGP ClinVar Annotator: match by term: Abnormal thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
Arterial thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP ORPHA:744 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP ORPHA:117 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G CALR calreticulin IAGP ORPHA:3318 ORPHA:824 HPO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CBS cystathionine beta-synthase IAGP ORPHA:394 HPO NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:117 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP ORPHA:3002 HPO NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:397 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:397 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP ORPHA:117 HPO NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A IAGP ORPHA:117 HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP ORPHA:117 HPO NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G JAK2 Janus kinase 2 IAGP ORPHA:3318 ORPHA:71493 ORPHA:729 ORPHA:824 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ORPHA:117 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:3318 ORPHA:71493 ORPHA:729 ORPHA:824 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ORPHA:1880 HPO NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP ORPHA:397 HPO NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ORPHA:447 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G PROS1 protein S IAGP OMIM:612336 OMIM:614514 ORPHA:743 HPO NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:744 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:397 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SERPINC1 serpin family C member 1 IAGP ORPHA:82 HPO NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ORPHA:3318 HPO NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:117 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:3318 ORPHA:729 ORPHA:824 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G THPO thrombopoietin IAGP ORPHA:71493 HPO NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
JBrowse link
G TLR4 toll like receptor 4 IAGP ORPHA:117 HPO NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:3318 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ORPHA:117 HPO NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
Cerebral venous thrombosis term browser
Symbol Object Name 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 PMID:30755392 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Blood clot in cerebral vein ClinVar PMID:25741868 PMID:28492532 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP OMIM:188050 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F2 coagulation factor II, thrombin IAGP OMIM:188050 HPO NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G HABP2 hyaluronan binding protein 2 IAGP OMIM:188050 HPO NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP OMIM:188050 HPO NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PDE4D phosphodiesterase 4D IAGP ORPHA:280651 HPO NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PGM1 phosphoglucomutase 1 IAGP OMIM:614921 HPO NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:280651 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP OMIM:176860 HPO 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 OMIM:612336 OMIM:614514 HPO NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G SERPINC1 serpin family C member 1 IAGP OMIM:613118 ORPHA:82 HPO NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
Deep venous thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP OMIM:176920 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP ORPHA:79320 HPO NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G COMT catechol-O-methyltransferase IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,314,238...20,320,060
Ensembl chr22:20,314,238...20,320,080
JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,232...20,111,877
JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP OMIM:611783 HPO NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP OMIM:188050 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F2 coagulation factor II, thrombin IAGP OMIM:188050 HPO NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V IAGP OMIM:188055
ClinVar Annotator: match by term: Blood clot in a deep vein
HPO
ClinVar
PMID:19486170 PMID:25741868 PMID:31064749 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G F8 coagulation factor VIII IAGP OMIM:301071 HPO NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G F9 coagulation factor IX IAGP OMIM:300807 HPO NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459
JBrowse link
G FAM230A family with sequence similarity 230 member A IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:18,421,384...18,500,594
Ensembl chr22:18,422,244...18,500,594
JBrowse link
G FGA fibrinogen alpha chain IAGP ClinVar Annotator: match by term: Deep vein thrombosis ClinVar PMID:8473507 PMID:8636415 PMID:25741868 PMID:34355501 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G FGB fibrinogen beta chain IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:12573244 PMID:15795540 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G GGTLC3 gamma-glutamyltransferase light chain family member 3 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:18,516,338...18,518,166
Ensembl chr22:18,516,344...18,518,161
JBrowse link
G GNB1L G protein subunit beta 1 like IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HABP2 hyaluronan binding protein 2 IAGP OMIM:188050 HPO NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
JBrowse link
G KLHL22 kelch like family member 22 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,441,519...20,495,795
Ensembl chr22:20,441,519...20,495,844
JBrowse link
G MED15 mediator complex subunit 15 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,507,610...20,587,619
Ensembl chr22:20,495,913...20,587,632
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ORPHA:79282 HPO NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP OMIM:188050 HPO NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP ORPHA:2169 HPO NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP OMIM:616843 HPO NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ORPHA:447 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G PLAT plasminogen activator, tissue type IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PLG plasminogen IAGP ClinVar Annotator: match by term: Deep venous thrombosis
ClinVar Annotator: match by term: Deep vein thrombosis
ClinVar PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 PMID:16849641 More... NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,238...160,754,097
JBrowse link
G PMM2 phosphomannomutase 2 IAGP ORPHA:79318 HPO NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP OMIM:176860 OMIM:612304
ClinVar Annotator: match by term: Deep vein thrombosis
ClinVar Annotator: match by term: Blood clot in a deep vein
ClinVar Annotator: match by term: Deep venous thrombosis
HPO
ClinVar
PMID:8128429 PMID:8499565 PMID:25741868 PMID:28492532 PMID:31064749 More... 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 ORPHA:743
ClinVar Annotator: match by term: Blood clot in a deep vein
HPO
ClinVar
PMID:7803790 PMID:12351389 PMID:20880255 PMID:22261441 PMID:25741868 More... NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G RANBP1 RAN binding protein 1 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355
JBrowse link
G RIMBP3 RIMS binding protein 3 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:18,605,815...18,611,919
Ensembl chr22:18,605,815...18,611,919
JBrowse link
G RTL10 retrotransposon Gag like 10 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896
JBrowse link
G RTN4R reticulon 4 receptor IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,241,415...20,268,318
Ensembl chr22:20,241,415...20,283,246
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224
JBrowse link
G SERPINC1 serpin family C member 1 IAGP OMIM:613118 ORPHA:82
ClinVar Annotator: match by term: Deep vein thrombosis
ClinVar Annotator: match by term: Deep venous thrombosis
HPO
ClinVar
PMID:1469094 PMID:1483705 PMID:1555650 PMID:1977621 PMID:2336381 More... 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 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720
JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G THBD thrombomodulin IAGP OMIM:614486 HPO NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TMEM191B transmembrane protein 191B IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:18,527,802...18,530,573
Ensembl chr22:18,527,802...18,530,573
JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,111,875...20,117,226
Ensembl chr22:20,111,875...20,117,392
JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP OMIM:301054 HPO NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
G USP41 ubiquitin specific peptidase 41 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,363,621...20,390,758
Ensembl chr22:20,350,578...20,377,251
JBrowse link
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,131,804...20,148,007
Ensembl chr22:20,129,456...20,148,007
JBrowse link
G ZNF74 zinc finger protein 74 IAGP ClinVar Annotator: match by term: Deep venous thrombosis ClinVar PMID:25741868 PMID:31064749 NCBI chr22:20,394,151...20,408,455
Ensembl chr22:20,394,115...20,408,461
JBrowse link
Disseminated intravascular coagulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CD46 CD46 molecule IAGP ORPHA:244242 HPO NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CFH complement factor H IAGP ORPHA:244242 HPO NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFI complement factor I IAGP ORPHA:244242 HPO NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,641...53,460,862
JBrowse link
G HELLPAR HELLP associated long non-coding RNA IAGP ORPHA:244242 HPO Ensembl chr12:102,197,585...102,402,596 JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G LIPA lipase A, lysosomal acid type IAGP OMIM:278000 HPO NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LPIN1 lipin 1 IAGP ORPHA:99845 HPO NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ORPHA:99845 HPO NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ORPHA:99845 HPO NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NFS1 NFS1 cysteine desulfurase IAGP OMIM:619386 HPO NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355
JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP OMIM:616050 HPO NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PROS1 protein S IAGP OMIM:614514 HPO NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ORPHA:90307 HPO NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ORPHA:466650 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SERPIND1 serpin family D member 1 IAGP OMIM:612356 HPO NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
Hepatic vein thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD55 CD55 molecule (Cromer blood group) IAGP OMIM:226300 HPO NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M IAGP OMIM:610293 HPO NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990
JBrowse link
G SERPINC1 serpin family C member 1 IAGP ORPHA:82 HPO NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
Mesenteric venous thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPAS1 endothelial PAS domain protein 1 IAGP OMIM:611783 HPO NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ORPHA:447 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G SERPINC1 serpin family C member 1 IAGP ORPHA:82 HPO NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
Peripheral thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAK2 Janus kinase 2 IAGP OMIM:133100 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP OMIM:133100 HPO NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP OMIM:263400 HPO NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
Portal vein thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 IAGP ORPHA:33402 HPO NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G JAK2 Janus kinase 2 IAGP ORPHA:729 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP ORPHA:3202 HPO NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ORPHA:33402 HPO NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:729 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NOTCH1 notch receptor 1 IAGP OMIM:616028 HPO NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP ORPHA:3202 HPO NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M IAGP OMIM:610293 HPO NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990
JBrowse link
G SERPINC1 serpin family C member 1 IAGP ORPHA:82 HPO NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ORPHA:3202 HPO NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:729 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
Recurrent deep vein thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAT plasminogen activator, tissue type IAGP OMIM:612348 HPO NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G SERPIND1 serpin family D member 1 IAGP OMIM:612356 HPO NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720
JBrowse link
Recurrent thromboembolism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRG histidine rich glycoprotein IAGP OMIM:613116 HPO NCBI chr 3:186,666,014...186,678,234
Ensembl chr 3:186,660,216...186,678,234
JBrowse link
G SERPINC1 serpin family C member 1 IAGP ORPHA:82 HPO NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
Recurrent thrombophlebitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13A1 coagulation factor XIII A chain IAGP OMIM:188050 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F2 coagulation factor II, thrombin IAGP OMIM:188050 HPO NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G HABP2 hyaluronan binding protein 2 IAGP OMIM:188050 HPO NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP OMIM:188050 HPO NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G SERPINC1 serpin family C member 1 IAGP OMIM:613118 HPO NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP OMIM:614816 HPO NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
Splanchnic vein thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor IAGP ORPHA:676 HPO NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ORPHA:676 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CPA1 carboxypeptidase A1 IAGP ORPHA:676 HPO NCBI chr 7:130,380,494...130,388,108
Ensembl chr 7:130,380,339...130,388,114
JBrowse link
G CTRC chymotrypsin C IAGP ORPHA:676 HPO NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
JBrowse link
G PRSS1 serine protease 1 IAGP ORPHA:676 HPO NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072
JBrowse link
G PRSS2 serine protease 2 IAGP ORPHA:676 HPO NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP ORPHA:676 HPO NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
JBrowse link
Superficial thrombophlebitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP OMIM:176860 OMIM:612304 HPO 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 OMIM:612336 OMIM:614514 HPO NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G SERPINC1 serpin family C member 1 IAGP ORPHA:82 HPO NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
Thromboembolic stroke term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP ORPHA:820 HPO NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP OMIM:607554 HPO NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP ORPHA:395 HPO NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
Thromboembolism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase IAGP OMIM:236200 HPO NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP ORPHA:99105 HPO NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
JBrowse link
G EPOR erythropoietin receptor IAGP ORPHA:90042 HPO NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G F12 coagulation factor XII IAGP ORPHA:330 HPO NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP OMIM:188050 HPO NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F2 coagulation factor II, thrombin IAGP OMIM:188050 HPO NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V IAGP ClinVar Annotator: match by term: Thromboembolism
ClinVar Annotator: match by term: Thromboembolic events
ClinVar PMID:19486170 PMID:25741868 PMID:31064749 PMID:34355501 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP ORPHA:3002 HPO NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
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 FLNC filamin C IAGP ORPHA:75249 HPO NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274
JBrowse link
G HABP2 hyaluronan binding protein 2 IAGP OMIM:188050 HPO NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
JBrowse link
G JAK2 Janus kinase 2 IAGP OMIM:263300 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP ORPHA:3202 HPO NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G KIF20A kinesin family member 20A IAGP ORPHA:75249 HPO NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ORPHA:79282 HPO NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ORPHA:137675 HPO NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP OMIM:188050 HPO NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP ORPHA:2169 HPO NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G MYPN myopalladin IAGP ORPHA:75249 HPO NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
JBrowse link
G NPPA natriuretic peptide A IAGP ORPHA:1344 HPO NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP ORPHA:3202 HPO NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ORPHA:447 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G PRDX1 peroxiredoxin 1 IAGP OMIM:277400 HPO NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:1359 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP ClinVar Annotator: match by term: Thromboembolic events
ClinVar Annotator: match by term: Thromboembolism
ClinVar PMID:1868249 PMID:8093743 PMID:25741868 PMID:28492532 PMID:31064749 More... 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 ClinVar Annotator: match by term: Thromboembolism ClinVar PMID:25741868 PMID:31064749 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ORPHA:1344 HPO NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687
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 SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ORPHA:3202 HPO NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G TLL1 tolloid like 1 IAGP ORPHA:99106 HPO NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ORPHA:75249 HPO NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ORPHA:75249 HPO NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
G TTR transthyretin IAGP ORPHA:85451 HPO NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP OMIM:301054 HPO NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
Thrombophlebitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP ORPHA:744 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G PROS1 protein S IAGP ORPHA:743 HPO NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:744 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
Venous thrombosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP ORPHA:774 HPO NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP ORPHA:90308 HPO NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP ORPHA:117 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G CALR calreticulin IAGP ORPHA:3318 ORPHA:824 HPO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CBS cystathionine beta-synthase IAGP ORPHA:394 HPO NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ORPHA:900 HPO NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G ENG endoglin IAGP ORPHA:774 HPO NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EPOR erythropoietin receptor IAGP ORPHA:90042 HPO NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:117 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FGA fibrinogen alpha chain IAGP ORPHA:98881 HPO NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G FGB fibrinogen beta chain IAGP ORPHA:98881 HPO NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP ORPHA:98881 HPO NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
G GDF2 growth differentiation factor 2 IAGP ORPHA:774 HPO NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
JBrowse link
G GNAQ G protein subunit alpha q IAGP ORPHA:3205 ORPHA:624 HPO NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G HBB hemoglobin subunit beta IAGP ORPHA:231214 HPO NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:117
associated with Behcet Syndrome;DNA:polymorphisms:cds:HLA-B35, HLA-B51
HPO
RGD
PMID:12372094 RGD:7364924 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP ORPHA:900 HPO NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:900 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ORPHA:163634 ORPHA:296 HPO NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ORPHA:163634 ORPHA:296 HPO NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP ORPHA:117 HPO NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A IAGP ORPHA:117 HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP ORPHA:117 HPO NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G JAK2 Janus kinase 2 IAGP ORPHA:3318 ORPHA:71493 ORPHA:824 HPO NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KIF11 kinesin family member 11 IAGP ORPHA:2526 HPO NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ORPHA:117 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP ORPHA:3318 ORPHA:71493 ORPHA:824 HPO NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP OMIM:607685 HPO NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M IAGP OMIM:610293 HPO NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP ORPHA:745 HPO NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G PRTN3 proteinase 3 IAGP ORPHA:900 HPO NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ORPHA:296 HPO NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:900 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SAA1 serum amyloid A1 IAGP ORPHA:85445 HPO NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ORPHA:3318 HPO NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G SMAD4 SMAD family member 4 IAGP ORPHA:774 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:117 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ORPHA:3318 ORPHA:824 HPO NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G THPO thrombopoietin IAGP ORPHA:71493 HPO NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
JBrowse link
G TLR4 toll like receptor 4 IAGP ORPHA:117 HPO NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:3318 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ORPHA:117 HPO NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14838
    Phenotypic abnormality 14835
      Abnormality of blood and blood-forming tissues 1952
        Abnormal thrombosis 169
          Arterial thrombosis 33
          Disseminated intravascular coagulation + 27
          Peripheral thrombosis 3
          Thromboembolism + 37
          Venous thrombosis + 114
paths to the root