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ONTOLOGY REPORT - ANNOTATIONS


Term:hemorrhagic disease
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Accession:DOID:2213 term browser browse the term
Definition:Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
Synonyms:exact_synonym: Hemorrhagic Diatheses;   Hemorrhagic Diathesis;   Hemorrhagic Disorder;   Hemorrhagic Disorders
 primary_id: MESH:D006474;   RDO:0003677
 xref: ICD10CM:D69.9;   ICD9CM:287.9
For additional species annotation, visit the Alliance of Genome Resources.


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hemorrhagic disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn1 actinin alpha 1 JBrowse link NW_004955466 1,388,507 1,480,990 RGD:9068941
G Arvcf ARVCF delta catenin family member JBrowse link NW_004955442 18,109,421 18,149,969 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Comt catechol-O-methyltransferase JBrowse link NW_004955442 18,130,282 18,152,153 RGD:9068941
G Dgcr6l DiGeorge syndrome critical region gene 6 like JBrowse link NW_004955442 17,810,570 17,815,905 RGD:9068941
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link NW_004955442 17,998,565 18,034,247 RGD:9068941
G F10 coagulation factor X JBrowse link NW_004955404 666,142 682,598 RGD:9068941
G F11 coagulation factor XI JBrowse link NW_004955403 22,811,211 22,830,281 RGD:9068941
G F5 coagulation factor V JBrowse link NW_004955462 7,695,004 7,757,832 RGD:9068941
G F7 coagulation factor VII JBrowse link NW_004955404 685,170 692,797 RGD:9068941
G F8 coagulation factor VIII JBrowse link NW_004955594 658,686 800,101 RGD:9068941
G Fga fibrinogen alpha chain JBrowse link NW_004955471 8,806,964 8,814,671 RGD:9068941
G Fgb fibrinogen beta chain JBrowse link NW_004955471 8,824,901 8,832,836 RGD:9068941
G Fgg fibrinogen gamma chain JBrowse link NW_004955471 8,786,910 8,794,947 RGD:9068941
G Ggcx gamma-glutamyl carboxylase JBrowse link NW_004955424 1,926,924 1,952,635 RGD:9068941
G Gnb1l G protein subunit beta 1 like JBrowse link NW_004955442 18,224,081 18,281,558 RGD:9068941
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link NW_004955442 18,359,664 18,360,979 RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:9068941
G Klhl22 kelch like family member 22 JBrowse link NW_004955442 19,010,971 19,051,300 RGD:9068941
G Med15 mediator complex subunit 15 JBrowse link NW_004955442 19,112,269 19,179,742 RGD:9068941
G Pi4ka phosphatidylinositol 4-kinase alpha JBrowse link NW_004955442 19,446,955 19,594,790 RGD:9068941
G Pros1 protein S JBrowse link NW_004955407 3,514,900 3,566,165 RGD:9068941
G Ranbp1 RAN binding protein 1 JBrowse link NW_004955442 17,985,456 17,992,945 RGD:9068941
G Rasgrp2 RAS guanyl releasing protein 2 JBrowse link NW_004955422 20,426,241 20,440,540 RGD:9068941
G Rtn4r reticulon 4 receptor JBrowse link NW_004955442 17,866,508 17,891,803 RGD:9068941
G Scarf2 scavenger receptor class F member 2 JBrowse link NW_004955442 18,995,253 19,006,499 RGD:9068941
G Septin5 septin 5 JBrowse link NW_004955442 18,361,072 18,369,648 RGD:9068941
G Serpind1 serpin family D member 1 JBrowse link NW_004955442 19,525,411 19,537,986 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Serpinf2 serpin family F member 2 JBrowse link NW_004955481 1,441,262 1,449,078 RGD:9068941
G Tango2 transport and golgi organization 2 homolog JBrowse link NW_004955442 18,036,477 18,074,036 RGD:9068941
G Tbx1 T-box transcription factor 1 JBrowse link NW_004955442 18,320,674 18,327,062 RGD:9068941
G Tbxa2r thromboxane A2 receptor JBrowse link NW_004955495 5,539,382 5,557,441 RGD:9068941
G Thbd thrombomodulin JBrowse link NW_004955415 30,222,830 30,226,406 RGD:9068941
G Trmt2a tRNA methyltransferase 2 homolog A JBrowse link NW_004955442 17,993,130 17,997,944 RGD:9068941
G Txnrd2 thioredoxin reductase 2 JBrowse link NW_004955442 18,150,060 18,205,775 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 JBrowse link NW_004955442 17,965,186 17,980,854 RGD:9068941
G Znf74 zinc finger protein 74 JBrowse link NW_004955442 18,969,061 18,982,193 RGD:9068941
Acute Traumatic Coagulopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plat plasminogen activator, tissue type JBrowse link NW_004955536 730,962 754,333 RGD:9068941
alpha-2-plasmin inhibitor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf2 serpin family F member 2 JBrowse link NW_004955481 1,441,262 1,449,078 RGD:7240710
RGD:9068941
atypical hemolytic-uremic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link NW_004955513 2,761,386 2,786,447 RGD:9068941
G Baat bile acid-CoA:amino acid N-acyltransferase JBrowse link NW_004955419 24,469,213 24,521,728 RGD:9068941
G C2 complement C2 JBrowse link NW_004955437 449,171 460,898 RGD:9068941
G C3 complement C3 JBrowse link NW_004955495 2,796,601 2,824,233 RGD:7240710
RGD:9068941
G C3ar1 complement C3a receptor 1 JBrowse link NW_004955413 6,707,003 6,715,689 RGD:9068941
G Cd46 CD46 molecule JBrowse link NW_004955406 43,002,817 43,034,555 RGD:7240710
RGD:9068941
G Cfb complement factor B JBrowse link NW_004955437 461,235 466,908 RGD:7240710
RGD:9068941
G Cfi complement factor I JBrowse link NW_004955496 492,217 553,398 RGD:7240710
RGD:9068941
G Dgke diacylglycerol kinase epsilon JBrowse link NW_004955451 5,966,773 5,988,004 RGD:9068941
G Thbd thrombomodulin JBrowse link NW_004955415 30,222,830 30,226,406 RGD:7240710
RGD:9068941
autoimmune thrombocytopenic purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link NW_004955513 2,761,386 2,786,447 RGD:9068941
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Cd40 CD40 molecule JBrowse link NW_004955445 11,191,817 11,202,156 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004955489 8,465,571 8,477,714 RGD:9068941
G Cd86 CD86 molecule JBrowse link NW_004955427 21,375,820 21,436,767 RGD:9068941
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link NW_004955469 7,264,431 7,367,059 RGD:9068941
G Dnmt3b DNA methyltransferase 3 beta JBrowse link NW_004955422 28,380,595 28,427,012 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004955425 3,961,671 3,987,513 RGD:9068941
G Fcgr2b Fc fragment of IgG receptor IIb JBrowse link NW_004955462 14,639,396 14,653,801 RGD:9068941
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link NW_004955467 10,333,537 10,347,488 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004955412 13,807,361 13,826,007 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004955470 1,527,710 1,538,418 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004955428 18,163,010 18,168,157 RGD:9068941
G Il4 interleukin 4 JBrowse link NW_004955408 4,058,052 4,065,999 RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:9068941
G Plat plasminogen activator, tissue type JBrowse link NW_004955536 730,962 754,333 RGD:9068941
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 JBrowse link NW_004955435 17,082,762 17,139,067 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb1 tubulin beta 1 class VI JBrowse link NW_004955445 569,504 576,129 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin heavy chain 9 JBrowse link NW_004955413 22,881,759 22,972,182 RGD:7240710
RGD:9068941
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:7240710
RGD:9068941
Bernard-Soulier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link NW_004955467 10,333,537 10,347,488 RGD:7240710
RGD:9068941
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link NW_004955442 18,359,664 18,360,979 RGD:9068941
RGD:7240710
G Gp9 glycoprotein IX platelet JBrowse link NW_004955450 10,478,165 10,479,425 RGD:7240710
RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link NW_004955467 10,333,537 10,347,488 RGD:7240710
RGD:9068941
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link NW_004955467 10,333,537 10,347,488 RGD:9068941
Bernard-Soulier Syndrome, Type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link NW_004955467 10,333,537 10,347,488 RGD:9068941
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link NW_004955442 18,359,664 18,360,979 RGD:9068941
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp9 glycoprotein IX platelet JBrowse link NW_004955450 10,478,165 10,479,425 RGD:9068941
blood platelet disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd36 CD36 molecule JBrowse link NW_004955410 5,003,720 5,120,903 RGD:9068941
G Fermt3 fermitin family member 3 JBrowse link NW_004955422 20,854,297 20,870,463 RGD:9068941
G Pla2g4a phospholipase A2 group IVA JBrowse link NW_004955406 25,257,361 25,392,079 RGD:9068941
G Tbxa2r thromboxane A2 receptor JBrowse link NW_004955495 5,539,382 5,557,441 RGD:9068941
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link NW_004955416 7,391,281 7,393,137 RGD:9068941
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:9068941
G Znf469 zinc finger protein 469 JBrowse link NW_004955541 2,404,549 2,438,183 RGD:9068941
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:9068941
G Znf469 zinc finger protein 469 JBrowse link NW_004955541 2,404,549 2,438,183 RGD:7240710
RGD:9068941
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:7240710
RGD:9068941
Cardiac Valvular Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link NW_004955580 874,233 895,172 RGD:7240710
RGD:9068941
cavernous hemangioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link NW_004955456 7,232,224 7,251,012 RGD:9068941
G Krit1 KRIT1 ankyrin repeat containing JBrowse link NW_004955432 9,168,678 9,219,947 RGD:9068941
cerebral cavernous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankib1 ankyrin repeat and IBR domain containing 1 JBrowse link NW_004955432 9,220,318 9,358,728 RGD:9068941
G Ccm2 CCM2 scaffold protein JBrowse link NW_004955456 7,232,224 7,251,012 RGD:9068941
G Flt1 fms related receptor tyrosine kinase 1 JBrowse link NW_004955497 7,653,309 7,831,737 RGD:9068941
G Kdr kinase insert domain receptor JBrowse link NW_004955447 15,810,816 15,851,702 RGD:9068941
G Krit1 KRIT1 ankyrin repeat containing JBrowse link NW_004955432 9,168,678 9,219,947 RGD:7240710
RGD:9068941
G Pdcd10 programmed cell death 10 JBrowse link NW_004955448 16,866,577 16,887,215 RGD:9068941
G Pon1 paraoxonase 1 JBrowse link NW_004955432 11,893,473 11,923,035 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004955425 5,007,811 5,091,829 RGD:9068941
G Serpini1 serpin family I member 1 JBrowse link NW_004955448 16,947,375 16,982,114 RGD:9068941
cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1 ankyrin repeat containing JBrowse link NW_004955432 9,168,678 9,219,947 RGD:7240710
RGD:9068941
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link NW_004955456 7,232,224 7,251,012 RGD:7240710
RGD:9068941
G Nacad NAC alpha domain containing JBrowse link NW_004955456 7,224,224 7,230,736 RGD:9068941
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link NW_004955448 16,866,577 16,887,215 RGD:7240710
RGD:9068941
congenital afibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb11 ATP binding cassette subfamily B member 11 JBrowse link NW_004955449 5,412,958 5,511,629 RGD:9068941
G Cfi complement factor I JBrowse link NW_004955496 492,217 553,398 RGD:9068941
G Fga fibrinogen alpha chain JBrowse link NW_004955471 8,806,964 8,814,671 RGD:7240710
RGD:9068941
G Fgb fibrinogen beta chain JBrowse link NW_004955471 8,824,901 8,832,836 RGD:7240710
RGD:9068941
G Fgg fibrinogen gamma chain JBrowse link NW_004955471 8,786,910 8,794,947 RGD:7240710
RGD:9068941
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link NW_004955537 2,922,156 2,937,223 RGD:7240710
RGD:9068941
congenital disorder of glycosylation Ix term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B JBrowse link NW_004955430 22,986,673 23,070,923 RGD:7240710
RGD:9068941
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fga fibrinogen alpha chain JBrowse link NW_004955471 8,806,964 8,814,671 RGD:9068941
G Fgb fibrinogen beta chain JBrowse link NW_004955471 8,824,901 8,832,836 RGD:9068941
G Fgg fibrinogen gamma chain JBrowse link NW_004955471 8,786,910 8,794,947 RGD:9068941
cryoglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1 ATP binding cassette subfamily B member 1 JBrowse link NW_004955432 4,911,774 5,085,349 RGD:9068941
G Cd86 CD86 molecule JBrowse link NW_004955427 21,375,820 21,436,767 RGD:9068941
G Tcn2 transcobalamin 2 JBrowse link NW_004955455 4,827,030 4,849,810 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tslp thymic stromal lymphopoietin JBrowse link NW_004955418 4,041,529 4,045,534 RGD:9068941
disseminated intravascular coagulation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link NW_004955513 2,761,386 2,786,447 RGD:9068941
G F13a1 coagulation factor XIII A chain JBrowse link NW_004955465 7,444,118 7,617,366 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link NW_004955422 1,356,675 1,367,788 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link NW_004955423 254,060 264,448 RGD:9068941
G F7 coagulation factor VII JBrowse link NW_004955404 685,170 692,797 RGD:9068941
G Fga fibrinogen alpha chain JBrowse link NW_004955471 8,806,964 8,814,671 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Plat plasminogen activator, tissue type JBrowse link NW_004955536 730,962 754,333 RGD:9068941
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link NW_004955459 3,097,229 3,105,566 RGD:9068941
G Serpinc1 serpin family C member 1 JBrowse link NW_004955406 14,024,183 14,036,206 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Tfpi tissue factor pathway inhibitor JBrowse link NW_004955403 10,925,155 11,004,229 RGD:9068941
G Thbd thrombomodulin JBrowse link NW_004955415 30,222,830 30,226,406 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc2 ATP binding cassette subfamily C member 2 JBrowse link NW_004955507 5,724,788 5,791,281 RGD:9068941
G Dpyd dihydropyrimidine dehydrogenase JBrowse link NW_004955435 2,007,185 2,800,907 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004955470 1,527,710 1,538,418 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link NW_004955478 7,448,584 7,531,860 RGD:9068941
Dysfibrinogenemia, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fga fibrinogen alpha chain JBrowse link NW_004955471 8,806,964 8,814,671 RGD:7240710
RGD:9068941
G Fgb fibrinogen beta chain JBrowse link NW_004955471 8,824,901 8,832,836 RGD:7240710
RGD:9068941
G Fgg fibrinogen gamma chain JBrowse link NW_004955471 8,786,910 8,794,947 RGD:7240710
RGD:9068941
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 JBrowse link NW_004955408 1,157,826 1,367,146 RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004955408 29,837,982 29,847,891 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
G Dcn decorin JBrowse link NW_004955405 28,335,493 28,371,912 RGD:9068941
G Flna filamin A JBrowse link NW_004955580 874,233 895,172 RGD:9068941
G Lox lysyl oxidase JBrowse link NW_004955521 178,290 193,926 RGD:9068941
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link NW_004955486 1,967,771 1,990,561 RGD:9068941
G Slc39a13 solute carrier family 39 member 13 JBrowse link NW_004955422 845,076 852,772 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Tnxb tenascin XB JBrowse link NW_004955437 516,713 561,188 RGD:9068941
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnxb tenascin XB JBrowse link NW_004955437 516,713 561,188 RGD:7240710
RGD:9068941
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 beta-1,3-galactosyltransferase 6 JBrowse link NW_004955486 9,553,765 9,555,675 RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004955408 29,837,982 29,847,891 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
G Slc40a1 solute carrier family 40 member 1 JBrowse link NW_004955403 9,253,734 9,271,732 RGD:9068941
G Wdr75 WD repeat domain 75 JBrowse link NW_004955403 9,352,615 9,383,206 RGD:9068941
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link NW_004955486 1,937,873 1,962,577 RGD:9068941
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link NW_004955486 1,967,771 1,990,561 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link NW_004955413 4,652,156 4,660,897 RGD:7240710
RGD:9068941
G C1s complement C1s JBrowse link NW_004955413 4,620,450 4,630,860 RGD:9068941
Ehlers-Danlos Syndrome, Cardiac Valvular Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:7240710
RGD:9068941
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp1 AE binding protein 1 JBrowse link NW_004955456 7,860,191 7,868,526 RGD:7240710
RGD:9068941
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link NW_004955410 31,313,637 31,325,544 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link NW_004955416 7,391,281 7,393,137 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link NW_004955526 348,673 393,328 RGD:7240710
RGD:9068941
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link NW_004955413 4,652,156 4,660,897 RGD:9068941
G C1s complement C1s JBrowse link NW_004955413 4,620,450 4,630,860 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Progeroid Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 beta-1,3-galactosyltransferase 6 JBrowse link NW_004955486 9,553,765 9,555,675 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:7240710
RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 JBrowse link NW_004955408 1,157,826 1,367,146 RGD:7240710
RGD:9068941
essential thrombocythemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg2b autophagy related 2B JBrowse link NW_004955438 18,080,641 18,153,490 RGD:9068941
G Bdkrb1 bradykinin receptor B1 JBrowse link NW_004955438 16,500,219 16,505,394 RGD:9068941
G Bdkrb2 bradykinin receptor B2 JBrowse link NW_004955438 16,514,300 16,537,160 RGD:9068941
G Calr calreticulin JBrowse link NW_004955415 31,985,147 31,989,372 RGD:7240710
RGD:9068941
G Cd36 CD36 molecule JBrowse link NW_004955410 5,003,720 5,120,903 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004955489 8,465,571 8,477,714 RGD:9068941
G Cux2 cut like homeobox 2 JBrowse link NW_004955482 7,783,483 8,045,808 RGD:9068941
G Fgf2 fibroblast growth factor 2 JBrowse link NW_004955428 17,840,554 17,894,779 RGD:9068941
G Gskip GSK3B interacting protein JBrowse link NW_004955438 18,153,564 18,174,980 RGD:9068941
G Jak2 Janus kinase 2 JBrowse link NW_004955434 9,227,897 9,341,208 RGD:9068941
G LOC102015452 chromosome unknown open reading frame, human C14orf132 JBrowse link NW_004955438 16,628,879 16,662,868 RGD:9068941
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link NW_004955537 2,922,156 2,937,223 RGD:9068941
G Myb MYB proto-oncogene, transcription factor JBrowse link NW_004955439 1,523,516 1,560,185 RGD:9068941
G Pdgfa platelet derived growth factor subunit A JBrowse link NW_004955460 8,328,400 8,346,755 RGD:9068941
G Pdgfb platelet derived growth factor subunit B JBrowse link NW_004955413 25,150,702 25,166,987 RGD:9068941
G Sh2b3 SH2B adaptor protein 3 JBrowse link NW_004955482 8,079,905 8,100,791 RGD:7240710
RGD:9068941
G Tcl1a T cell leukemia/lymphoma 1A JBrowse link NW_004955438 16,934,650 16,952,926 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Thpo thrombopoietin JBrowse link NW_004955420 23,120,828 23,128,894 RGD:7240710
RGD:9068941
G Vcam1 vascular cell adhesion molecule 1 JBrowse link NW_004955435 5,390,745 5,410,025 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpp2 tripeptidyl peptidase 2 JBrowse link NW_004955404 8,465,877 8,528,372 RGD:9068941
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit JBrowse link NW_004955441 13,766,683 13,776,305 RGD:7240710
RGD:9068941
factor V deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F5 coagulation factor V JBrowse link NW_004955462 7,695,004 7,757,832 RGD:7240710
RGD:9068941
G Lman1 lectin, mannose binding 1 JBrowse link NW_004955402 43,465,556 43,495,789 RGD:9068941
G Tfpi tissue factor pathway inhibitor JBrowse link NW_004955403 10,925,155 11,004,229 RGD:9068941
factor VII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link NW_004955404 666,142 682,598 RGD:9068941
G F7 coagulation factor VII JBrowse link NW_004955404 685,170 692,797 RGD:7240710
RGD:9068941
factor VIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link NW_004955495 2,796,601 2,824,233 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004955489 8,465,571 8,477,714 RGD:9068941
G Cfb complement factor B JBrowse link NW_004955437 461,235 466,908 RGD:9068941
G Cfp complement factor properdin JBrowse link NW_004955516 449,993 455,897 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link NW_004955422 1,356,675 1,367,788 RGD:9068941
G F8 coagulation factor VIII JBrowse link NW_004955594 658,686 800,101 RGD:7240710
RGD:9068941
G F9 coagulation factor IX JBrowse link NW_004955489 5,747,718 5,780,899 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004955405 43,124,447 43,128,873 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004955458 14,643,333 14,648,020 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Mthfr methylenetetrahydrofolate reductase JBrowse link NW_004955486 2,096,379 2,112,240 RGD:9068941
G Plat plasminogen activator, tissue type JBrowse link NW_004955536 730,962 754,333 RGD:9068941
G Tfpi tissue factor pathway inhibitor JBrowse link NW_004955403 10,925,155 11,004,229 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
Factor VIII Deficiency, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link NW_004955594 658,686 800,101 RGD:9068941
factor X deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link NW_004955404 666,142 682,598 RGD:7240710
RGD:9068941
G F11 coagulation factor XI JBrowse link NW_004955403 22,811,211 22,830,281 RGD:9068941
G F7 coagulation factor VII JBrowse link NW_004955404 685,170 692,797 RGD:9068941
factor XI deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F11 coagulation factor XI JBrowse link NW_004955403 22,811,211 22,830,281 RGD:7240710
RGD:9068941
factor XII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link NW_004955408 29,644,279 29,665,161 RGD:7240710
RGD:9068941
G Slc34a1 solute carrier family 34 member 1 JBrowse link NW_004955408 29,626,775 29,640,811 RGD:9068941
factor XIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13a1 coagulation factor XIII A chain JBrowse link NW_004955465 7,444,118 7,617,366 RGD:9068941
G F13b coagulation factor XIII B chain JBrowse link NW_004955406 33,633,911 33,660,506 RGD:9068941
G Lman1 lectin, mannose binding 1 JBrowse link NW_004955402 43,465,556 43,495,789 RGD:9068941
Factor Xiii, A Subunit, Deficiency Of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13a1 coagulation factor XIII A chain JBrowse link NW_004955465 7,444,118 7,617,366 RGD:7240710
RGD:9068941
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13b coagulation factor XIII B chain JBrowse link NW_004955406 33,633,911 33,660,506 RGD:7240710
RGD:9068941
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cand2 cullin associated and neddylation dissociated 2 (putative) JBrowse link NW_004955429 17,891,306 17,913,961 RGD:9068941
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lman1 lectin, mannose binding 1 JBrowse link NW_004955402 43,465,556 43,495,789 RGD:7240710
RGD:9068941
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit JBrowse link NW_004955441 13,766,683 13,776,305 RGD:9068941
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx1 RUNX family transcription factor 1 JBrowse link NW_004955407 34,108,653 34,342,657 RGD:7240710
RGD:9068941
Glanzmann's thrombasthenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link NW_004955446 14,309,516 14,421,991 RGD:9068941
G Itga2b integrin subunit alpha 2b JBrowse link NW_004955451 17,381,323 17,392,122 RGD:7240710
RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:7240710
RGD:9068941
gray platelet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc12 coiled-coil domain containing 12 JBrowse link NW_004955420 25,212,888 25,257,733 RGD:9068941
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link NW_004955513 2,273,267 2,281,850 RGD:9068941
G Nbeal2 neurobeachin like 2 JBrowse link NW_004955420 25,184,574 25,204,870 RGD:7240710
RGD:9068941
hemolytic-uremic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Cd36 CD36 molecule JBrowse link NW_004955410 5,003,720 5,120,903 RGD:9068941
G Cd46 CD46 molecule JBrowse link NW_004955406 43,002,817 43,034,555 RGD:9068941
G Dgke diacylglycerol kinase epsilon JBrowse link NW_004955451 5,966,773 5,988,004 RGD:9068941
G Epo erythropoietin JBrowse link NW_004955573 203,875 206,078 RGD:9068941
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link NW_004955523 307,181 310,728 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004955470 1,527,710 1,538,418 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link NW_004955484 7,012,373 7,028,182 RGD:9068941
G Pla2g7 phospholipase A2 group VII JBrowse link NW_004955437 11,534,251 11,577,942 RGD:9068941
G Plat plasminogen activator, tissue type JBrowse link NW_004955536 730,962 754,333 RGD:9068941
G Thbd thrombomodulin JBrowse link NW_004955415 30,222,830 30,226,406 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
hemophilia B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp11c ATPase phospholipid transporting 11C JBrowse link NW_004955489 5,394,553 5,567,295 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link NW_004955422 1,356,675 1,367,788 RGD:9068941
G F8 coagulation factor VIII JBrowse link NW_004955594 658,686 800,101 RGD:9068941
G F9 coagulation factor IX JBrowse link NW_004955489 5,747,718 5,780,899 RGD:7240710
RGD:9068941
G LOC102030639 chromosome unknown open reading frame, human CXorf66 JBrowse link NW_004955489 5,318,531 5,327,883 RGD:9068941
G Mcf2 MCF.2 cell line derived transforming sequence JBrowse link NW_004955489 5,613,310 5,715,688 RGD:9068941
G Sox3 SRY-box transcription factor 3 JBrowse link NW_004955489 4,817,753 4,819,858 RGD:9068941
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jam3 junctional adhesion molecule 3 JBrowse link NW_004955412 34,901,850 34,967,394 RGD:7240710
RGD:9068941
Henoch-Schoenlein purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link NW_004955492 7,863,662 7,874,863 RGD:9068941
G C3 complement C3 JBrowse link NW_004955495 2,796,601 2,824,233 RGD:9068941
G Cd86 CD86 molecule JBrowse link NW_004955427 21,375,820 21,436,767 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004955405 43,124,447 43,128,873 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004955405 37,505,830 37,582,152 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Il5 interleukin 5 JBrowse link NW_004955408 3,937,128 3,951,784 RGD:9068941
G Kng1 kininogen 1 JBrowse link NW_004955420 20,989,197 21,016,084 RGD:9068941
G Mefv MEFV innate immuity regulator, pyrin JBrowse link NW_004955442 14,068,436 14,093,889 RGD:9068941
G Plat plasminogen activator, tissue type JBrowse link NW_004955536 730,962 754,333 RGD:9068941
G Plau plasminogen activator, urokinase JBrowse link NW_004955437 17,995,726 18,000,542 RGD:9068941
G Pon1 paraoxonase 1 JBrowse link NW_004955432 11,893,473 11,923,035 RGD:9068941
Heparin-induced Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link NW_004955547 2,278,548 2,293,865 RGD:9068941
G Eng endoglin JBrowse link NW_004955419 818,797 853,319 RGD:9068941
G Gdf2 growth differentiation factor 2 JBrowse link NW_004955556 2,204,841 2,210,335 RGD:9068941
G Smad4 SMAD family member 4 JBrowse link NW_004955402 35,956,080 36,001,746 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link NW_004955547 2,278,548 2,293,865 RGD:9068941
G Eng endoglin JBrowse link NW_004955419 818,797 853,319 RGD:7240710
RGD:9068941
G Smad4 SMAD family member 4 JBrowse link NW_004955402 35,956,080 36,001,746 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link NW_004955547 2,278,548 2,293,865 RGD:7240710
RGD:9068941
G Eng endoglin JBrowse link NW_004955419 818,797 853,319 RGD:9068941
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf2 growth differentiation factor 2 JBrowse link NW_004955556 2,204,841 2,210,335 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link NW_004955425 22,792,616 23,051,509 RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link NW_004955555 2,183,752 2,186,154 RGD:9068941
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link NW_004955514 3,698,644 3,699,227 RGD:9068941
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link NW_004955465 5,910,095 5,943,996 RGD:9068941
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004955409 7,902,125 7,913,966 RGD:9068941
G Ccl5 C-C motif chemokine ligand 5 JBrowse link NW_004955481 10,293,758 10,301,118 RGD:9068941
G Cp ceruloplasmin JBrowse link NW_004955448 470,063 522,909 RGD:9068941
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link NW_004955440 3,456,165 3,460,024 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:9068941
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004955455 1,048,946 1,076,097 RGD:9068941
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004955414 32,992,669 33,028,620 RGD:9068941
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004955485 8,270,997 8,273,060 RGD:9068941
G Kxd1 KxDL motif containing 1 JBrowse link NW_004955524 3,010,997 3,018,309 RGD:9068941
G Rab38 RAB38, member RAS oncogene family JBrowse link NW_004955414 5,158,860 5,214,108 RGD:9068941
G Slc7a11 solute carrier family 7 member 11 JBrowse link NW_004955428 5,238,460 5,309,085 RGD:9068941
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link NW_004955482 6,333,282 6,352,369 RGD:9068941
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:7240710
RGD:9068941
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 RGD:9068941
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link NW_004955425 22,792,616 23,051,509 RGD:7240710
RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link NW_004955448 470,063 522,909 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004955455 1,048,946 1,076,097 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004955414 32,992,669 33,028,620 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004955485 8,270,997 8,273,060 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link NW_004955555 2,183,752 2,186,154 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004955409 7,902,125 7,913,966 RGD:7240710
RGD:9068941
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt like transcription factor 4 JBrowse link NW_004955445 6,824,797 6,841,141 RGD:7240710
RGD:9068941
Jacobsen Distal 11q Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link NW_004955412 29,653,621 29,773,412 RGD:9068941
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link NW_004955450 8,747,651 8,842,003 RGD:9068941
G Smad4 SMAD family member 4 JBrowse link NW_004955402 35,956,080 36,001,746 RGD:7240710
RGD:9068941
Kaposiform Hemangioendothelioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf2 fibroblast growth factor 2 JBrowse link NW_004955428 17,840,554 17,894,779 RGD:9068941
G Gna14 G protein subunit alpha 14 JBrowse link NW_004955512 1,703,750 1,918,321 RGD:9068941
multiple myeloma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) JBrowse link NW_004955474 12,365,903 12,408,715 RGD:9068941
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Apoe apolipoprotein E JBrowse link NW_004955555 1,998,170 2,002,003 RGD:9068941
G Arid4a AT-rich interaction domain 4A JBrowse link NW_004955466 12,017,588 12,087,667 RGD:9068941
G Atm ATM serine/threonine kinase JBrowse link NW_004955412 10,422,753 10,531,406 RGD:9068941
G Aurka aurora kinase A JBrowse link NW_004955445 2,831,073 2,853,151 RGD:9068941
G B2m beta-2-microglobulin JBrowse link NW_004955416 11,205,503 11,211,325 RGD:9068941
G Bap1 BRCA1 associated protein 1 JBrowse link NW_004955430 2,391,970 2,400,645 RGD:9068941
G Bard1 BRCA1 associated RING domain 1 JBrowse link NW_004955457 1,187,942 1,258,475 RGD:9068941
G Bcl2 BCL2 apoptosis regulator JBrowse link NW_004955402 46,911,125 47,084,214 RGD:9068941
G Bcl2l1 BCL2 like 1 JBrowse link NW_004955422 29,254,440 29,307,104 RGD:9068941
G Bcorl1 BCL6 corepressor like 1 JBrowse link NW_004955473 4,990,974 5,054,829 RGD:9068941
G Bnip3 BCL2 interacting protein 3 JBrowse link NW_004955477 9,621,812 9,630,406 RGD:9068941
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link NW_004955494 2,567,238 2,712,708 RGD:9068941
G Btg1 BTG anti-proliferation factor 1 JBrowse link NW_004955405 29,206,889 29,209,407 RGD:9068941
G Cbl Cbl proto-oncogene JBrowse link NW_004955412 20,307,011 20,388,539 RGD:9068941
G Cbx7 chromobox 7 JBrowse link NW_004955413 25,079,627 25,100,039 RGD:9068941
G Ccnd1 cyclin D1 JBrowse link NW_004955422 16,449,921 16,462,676 RGD:7240710
RGD:9068941
G Ccnd2 cyclin D2 JBrowse link NW_004955413 2,083,351 2,108,450 RGD:9068941
G Ccnd3 cyclin D3 JBrowse link NW_004955437 8,266,523 8,273,855 RGD:9068941
G Cd40 CD40 molecule JBrowse link NW_004955445 11,191,817 11,202,156 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004955489 8,465,571 8,477,714 RGD:9068941
G Cd46 CD46 molecule JBrowse link NW_004955406 43,002,817 43,034,555 RGD:9068941
G Cd86 CD86 molecule JBrowse link NW_004955427 21,375,820 21,436,767 RGD:9068941
G Cdk4 cyclin dependent kinase 4 JBrowse link NW_004955458 5,457,927 5,460,718 RGD:9068941
G Cdkn2c cyclin dependent kinase inhibitor 2C JBrowse link NW_004955464 8,022,596 8,028,241 RGD:9068941
G Chi3l1 chitinase 3 like 1 JBrowse link NW_004955406 39,195,101 39,201,808 RGD:9068941
G Crbn cereblon JBrowse link NW_004955421 10,166,927 10,190,470 RGD:9068941
G Crebbp CREB binding protein JBrowse link NW_004955442 13,559,496 13,691,913 RGD:9068941
G Csf2 colony stimulating factor 2 JBrowse link NW_004955408 3,452,009 3,454,255 RGD:9068941
G Csf3 colony stimulating factor 3 JBrowse link NW_004955451 14,688,181 14,690,126 RGD:9068941
G Ctla4 cytotoxic T-lymphocyte associated protein 4 JBrowse link NW_004955457 11,028,707 11,034,898 RGD:9068941
G Cyld CYLD lysine 63 deubiquitinase JBrowse link NW_004955433 8,788,867 8,845,925 RGD:9068941
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link NW_004955404 33,897,681 33,924,069 RGD:9068941
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link NW_004955469 7,264,431 7,367,059 RGD:9068941
G Eif1ax eukaryotic translation initiation factor 1A X-linked JBrowse link NW_004955509 577,975 594,028 RGD:9068941
G Eng endoglin JBrowse link NW_004955419 818,797 853,319 RGD:9068941
G Ephx1 epoxide hydrolase 1 JBrowse link NW_004955520 116,363 142,983 RGD:9068941
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link NW_004955555 2,393,510 2,430,180 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
G Erf ETS2 repressor factor JBrowse link NW_004955555 654,945 661,097 RGD:9068941
G Faslg Fas ligand JBrowse link NW_004955406 13,098,479 13,107,045 RGD:9068941
G Fat1 FAT atypical cadherin 1 JBrowse link NW_004955403 22,502,625 22,618,513 RGD:9068941
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
G Fgg fibrinogen gamma chain JBrowse link NW_004955471 8,786,910 8,794,947 RGD:9068941
G Flt3 fms related receptor tyrosine kinase 3 JBrowse link NW_004955497 7,357,533 7,441,215 RGD:9068941
G Flt3lg fms related receptor tyrosine kinase 3 ligand JBrowse link NW_004955559 1,364,056 1,371,245 RGD:9068941
G Gpx1 glutathione peroxidase 1 JBrowse link NW_004955532 1,298,336 1,298,830 RGD:9068941
G Gstp1 glutathione S-transferase pi 1 JBrowse link NW_004955422 17,914,228 17,916,918 RGD:9068941
G H1-4 H1.4 linker histone, cluster member JBrowse link NW_004955483 870,957 871,724 RGD:9068941
G Hdac4 histone deacetylase 4 JBrowse link NW_004955542 1,629,691 1,886,160 RGD:9068941
G Hfe homeostatic iron regulator JBrowse link NW_004955483 933,269 941,070 RGD:9068941
G Hk1 hexokinase 1 JBrowse link NW_004955437 21,733,314 21,824,303 RGD:9068941
G Hras HRas proto-oncogene, GTPase JBrowse link NW_004955476 11,508,446 11,510,333 RGD:9068941
G Hspb1 heat shock protein family B (small) member 1 JBrowse link NW_004955844 8,094 9,565 RGD:9068941
G Icam1 intercellular adhesion molecule 1 JBrowse link NW_004955495 1,561,464 1,573,282 RGD:9068941
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 JBrowse link NW_004955457 6,851,542 6,869,452 RGD:9068941
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link NW_004955416 15,197,611 15,212,919 RGD:9068941
G Igf2r insulin like growth factor 2 receptor JBrowse link NW_004955439 20,754,915 20,874,759 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004955470 1,527,710 1,538,418 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Il4r interleukin 4 receptor JBrowse link NW_004955493 5,546,340 5,580,745 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Il7r interleukin 7 receptor JBrowse link NW_004955426 20,785,896 20,818,512 RGD:9068941
G Irf4 interferon regulatory factor 4 JBrowse link NW_004955465 12,497,534 12,512,529 RGD:9068941
G Kdm5c lysine demethylase 5C JBrowse link NW_004955475 243,666 278,064 RGD:9068941
G Kmt2c lysine methyltransferase 2C JBrowse link NW_004955491 6,245,408 6,420,535 RGD:9068941
G Kmt2d lysine methyltransferase 2D JBrowse link NW_004955500 7,850,782 7,891,703 RGD:9068941
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004955413 20,298,852 20,328,756 RGD:9068941
G Lats1 large tumor suppressor kinase 1 JBrowse link NW_004955439 11,559,655 11,611,287 RGD:9068941
G Lig4 DNA ligase 4 JBrowse link NW_004955404 3,606,077 3,615,193 RGD:7240710
RGD:9068941
G LOC102010850 cytochrome P450 1A1 JBrowse link NW_004955450 3,183,958 3,189,488 RGD:9068941
G Lrrc56 leucine rich repeat containing 56 JBrowse link NW_004955476 11,493,299 11,507,022 RGD:9068941
G Maf MAF bZIP transcription factor JBrowse link NW_004955522 2,514,313 2,519,694 RGD:9068941
G Mcl1 MCL1 apoptosis regulator, BCL2 family member JBrowse link NW_004955413 238,043 243,317 RGD:9068941
G Mefv MEFV innate immuity regulator, pyrin JBrowse link NW_004955442 14,068,436 14,093,889 RGD:9068941
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link NW_004955432 22,440,671 22,519,592 RGD:9068941
G Mga MAX dimerization protein MGA JBrowse link NW_004955416 8,416,236 8,566,371 RGD:9068941
G Mst1r macrophage stimulating 1 receptor JBrowse link NW_004955532 1,774,726 1,789,662 RGD:9068941
G Mthfr methylenetetrahydrofolate reductase JBrowse link NW_004955486 2,096,379 2,112,240 RGD:9068941
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link NW_004955492 3,372,915 3,474,173 RGD:9068941
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link NW_004955504 5,412,290 5,435,409 RGD:9068941
G Muc1 mucin 1, cell surface associated JBrowse link NW_004955545 1,657,728 1,662,112 RGD:9068941
G Myd88 MYD88 innate immune signal transduction adaptor JBrowse link NW_004955427 25,553,589 25,557,654 RGD:9068941
G Ncor2 nuclear receptor corepressor 2 JBrowse link NW_004955482 4,927,482 5,031,848 RGD:9068941
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
G Nfkbia NFKB inhibitor alpha JBrowse link NW_004955409 25,691,673 25,695,151 RGD:9068941
G Nkx2-1 NK2 homeobox 1 JBrowse link NW_004955409 24,612,490 24,616,360 RGD:9068941
G Notch2 notch receptor 2 JBrowse link NW_004955568 1,660,357 1,812,285 RGD:9068941
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link NW_004955484 7,012,373 7,028,182 RGD:9068941
G Nras NRAS proto-oncogene, GTPase JBrowse link NW_004955435 18,001,517 18,009,105 RGD:9068941
G Nuak1 NUAK family kinase 1 JBrowse link NW_004955405 40,156,316 40,188,144 RGD:9068941
G P2ry8 P2Y receptor family member 8 JBrowse link NW_004955499 1,062,233 1,064,588 RGD:9068941
G Parp1 poly(ADP-ribose) polymerase 1 JBrowse link NW_004955489 520,875 557,609 RGD:9068941
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha JBrowse link NW_004955420 8,355,415 8,427,024 RGD:9068941
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link NW_004955524 3,234,111 3,241,445 RGD:9068941
G Pon1 paraoxonase 1 JBrowse link NW_004955432 11,893,473 11,923,035 RGD:9068941
G Prame preferentially expressed antigen in melanoma JBrowse link NW_004955455 6,921,420 6,930,453 RGD:9068941
G Psors1c2 psoriasis susceptibility 1 candidate 2 JBrowse link NW_004955583 975,037 977,944 RGD:9068941
G Pthlh parathyroid hormone like hormone JBrowse link NW_004955505 6,834,533 6,846,909 RGD:9068941
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004955482 8,934,734 9,031,230 RGD:9068941
G Ranbp2 RAN binding protein 2 JBrowse link NW_004955470 12,180,426 12,247,737 RGD:9068941
G Recql4 RecQ like helicase 4 JBrowse link NW_004955454 3,136,097 3,142,525 RGD:9068941
G Runx1 RUNX family transcription factor 1 JBrowse link NW_004955407 34,108,653 34,342,657 RGD:9068941
G Rxra retinoid X receptor alpha JBrowse link NW_004955513 3,313,544 3,386,544 RGD:9068941
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link NW_004955422 24,714,103 24,780,672 RGD:9068941
G Sgk1 serum/glucocorticoid regulated kinase 1 JBrowse link NW_004955439 2,399,992 2,406,587 RGD:9068941
G Sh2b3 SH2B adaptor protein 3 JBrowse link NW_004955482 8,079,905 8,100,791 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004955439 21,209,101 21,223,538 RGD:9068941
G Sparc secreted protein acidic and cysteine rich JBrowse link NW_004955408 6,100,123 6,122,460 RGD:9068941
G Spp1 secreted phosphoprotein 1 JBrowse link NW_004955474 1,914,477 1,922,025 RGD:9068941
G Tcf3 transcription factor 3 JBrowse link NW_004955495 6,337,311 6,365,193 RGD:9068941
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
G Tet2 tet methylcytosine dioxygenase 2 JBrowse link NW_004955496 3,885,684 3,963,056 RGD:9068941
G Tet3 tet methylcytosine dioxygenase 3 JBrowse link NW_004955424 11,612,124 11,722,130 RGD:9068941
G Tfrc transferrin receptor JBrowse link NW_004955420 12,348,392 12,372,714 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link NW_004955577 930,612 971,698 RGD:9068941
G Tnfrsf17 TNF receptor superfamily member 17 JBrowse link NW_004955442 6,626,434 6,651,193 RGD:9068941
G Tp53 tumor protein p53 JBrowse link NW_004955467 9,241,391 9,256,716 RGD:9068941
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link NW_004955421 10,192,065 10,211,527 RGD:9068941
G Tyms thymidylate synthetase JBrowse link NW_004955402 9,295,862 9,304,952 RGD:9068941
G Ulk4 unc-51 like kinase 4 JBrowse link NW_004955420 28,633,011 29,031,161 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
G Xpo5 exportin 5 JBrowse link NW_004955437 9,351,045 9,392,396 RGD:9068941
G Xrcc4 X-ray repair cross complementing 4 JBrowse link NW_004955418 27,174,510 27,426,245 RGD:9068941
G Xrcc5 X-ray repair cross complementing 5 JBrowse link NW_004955453 16,967,453 17,054,634 RGD:9068941
G Yap1 Yes1 associated transcriptional regulator JBrowse link NW_004955412 5,423,866 5,533,728 RGD:9068941
MYH-9 related disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin heavy chain 9 JBrowse link NW_004955413 22,881,759 22,972,182 RGD:7240710
RGD:9068941
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link NW_004955451 17,381,323 17,392,122 RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:9068941
occipital horn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link NW_004955557 1,355,471 1,515,725 RGD:7240710
RGD:9068941
OI/EDS Combined Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
Phospholipase A2, Group IVA, Deficiency of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g4a phospholipase A2 group IVA JBrowse link NW_004955406 25,257,361 25,392,079 RGD:7240710
RGD:9068941
plasma cell leukemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link NW_004955445 11,191,817 11,202,156 RGD:9068941
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
Plasminogen Activator Inhibitor-1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 JBrowse link NW_004955456 16,127,877 16,134,039 RGD:9068941
G Mogat3 monoacylglycerol O-acyltransferase 3 JBrowse link NW_004955456 16,090,859 16,094,736 RGD:9068941
G Nat16 N-acetyltransferase 16 (putative) JBrowse link NW_004955456 16,114,681 16,118,249 RGD:9068941
G Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 JBrowse link NW_004955456 16,082,424 16,090,773 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:7240710
RGD:9068941
G Trim56 tripartite motif containing 56 JBrowse link NW_004955456 16,181,890 16,185,598 RGD:9068941
G Vgf VGF nerve growth factor inducible JBrowse link NW_004955456 16,119,073 16,126,968 RGD:9068941
Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arpc1b actin related protein 2/3 complex subunit 1B JBrowse link NW_004955460 15,055,753 15,069,093 RGD:7240710
RGD:9068941
platelet storage pool deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link NW_004955425 22,792,616 23,051,509 RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link NW_004955465 5,910,095 5,943,996 RGD:9068941
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004955409 7,902,125 7,913,966 RGD:9068941
G Dock7 dedicator of cytokinesis 7 JBrowse link NW_004955423 27,043,621 27,233,710 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link NW_004955513 2,273,267 2,281,850 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:9068941
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004955455 1,048,946 1,076,097 RGD:9068941
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004955414 32,992,669 33,028,620 RGD:9068941
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004955485 8,270,997 8,273,060 RGD:9068941
G Lyst lysosomal trafficking regulator JBrowse link NW_004955492 4,161,976 4,371,637 RGD:9068941
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 RGD:9068941
G Rab27b RAB27B, member RAS oncogene family JBrowse link NW_004955402 39,357,500 39,415,530 RGD:9068941
G Runx1 RUNX family transcription factor 1 JBrowse link NW_004955407 34,108,653 34,342,657 RGD:9068941
G Slc7a11 solute carrier family 7 member 11 JBrowse link NW_004955428 5,238,460 5,309,085 RGD:9068941
platelet-type bleeding disorder 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd36 CD36 molecule JBrowse link NW_004955410 5,003,720 5,120,903 RGD:7240710
RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxa2r thromboxane A2 receptor JBrowse link NW_004955495 5,539,382 5,557,441 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxas1 thromboxane A synthase 1 JBrowse link NW_004955494 3,161,032 3,321,974 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn1 actinin alpha 1 JBrowse link NW_004955466 1,388,507 1,480,990 RGD:7240710
RGD:9068941
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link NW_004955412 29,653,621 29,773,412 RGD:9068941
platelet-type bleeding disorder 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link NW_004955451 17,381,323 17,392,122 RGD:7240710
RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link NW_004955513 2,273,267 2,281,850 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rasgrp2 RAS guanyl releasing protein 2 JBrowse link NW_004955422 20,426,241 20,440,540 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slfn14 schlafen family member 14 JBrowse link NW_004955481 10,037,941 10,046,549 RGD:7240710
RGD:9068941
Platelet-Type Bleeding Disorder 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link NW_004955412 29,653,621 29,773,412 RGD:7240710
RGD:9068941
Platelet-Type Bleeding Disorder 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb2 EPH receptor B2 JBrowse link NW_004955452 2,844,713 2,986,790 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link NW_004955467 10,333,537 10,347,488 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12l mediator complex subunit 12L JBrowse link NW_004955448 2,224,343 2,530,542 RGD:9068941
G P2ry12 purinergic receptor P2Y12 JBrowse link NW_004955448 2,442,368 2,488,567 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link NW_004955446 14,309,516 14,421,991 RGD:7240710
RGD:9068941
G Mocs2 molybdenum cofactor synthesis 2 JBrowse link NW_004955446 14,295,737 14,305,735 RGD:9068941
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:7240710
RGD:9068941
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:7240710
RGD:9068941
prothrombin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II, thrombin JBrowse link NW_004955422 1,356,675 1,367,788 RGD:9068941
G F7 coagulation factor VII JBrowse link NW_004955404 685,170 692,797 RGD:9068941
Prothrombin Deficiency, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II, thrombin JBrowse link NW_004955422 1,356,675 1,367,788 RGD:7240710
RGD:9068941
pseudoxanthoma elasticum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc1 ATP binding cassette subfamily C member 1 JBrowse link NW_004955442 729,322 858,826 RGD:9068941
G Abcc2 ATP binding cassette subfamily C member 2 JBrowse link NW_004955507 5,724,788 5,791,281 RGD:9068941
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link NW_004955442 865,292 921,739 RGD:9068941
RGD:7240710
G Cat catalase JBrowse link NW_004955422 11,783,973 11,826,970 RGD:9068941
G Cep20 centrosomal protein 20 JBrowse link NW_004955442 650,033 665,540 RGD:9068941
G Eln elastin JBrowse link NW_004955456 13,788,992 13,818,836 RGD:9068941
G Gpx1 glutathione peroxidase 1 JBrowse link NW_004955532 1,298,336 1,298,830 RGD:9068941
G Mmp2 matrix metallopeptidase 2 JBrowse link NW_004955433 13,024,844 13,050,041 RGD:9068941
G Myh11 myosin heavy chain 11 JBrowse link NW_004955442 528,317 644,252 RGD:9068941
G Nde1 nudE neurodevelopment protein 1 JBrowse link NW_004955442 495,704 530,296 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004955439 21,209,101 21,223,538 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
G Xylt1 xylosyltransferase 1 JBrowse link NW_004955442 1,787,338 2,042,523 RGD:7240710
RGD:9068941
G Xylt2 xylosyltransferase 2 JBrowse link NW_004955451 11,347,254 11,354,489 RGD:7240710
RGD:9068941
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggcx gamma-glutamyl carboxylase JBrowse link NW_004955424 1,926,924 1,952,635 RGD:7240710
RGD:9068941
purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il13 interleukin 13 JBrowse link NW_004955408 4,046,406 4,049,795 RGD:9068941
purpura fulminans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link NW_004955459 3,097,229 3,105,566 RGD:9068941
Quebec platelet disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plau plasminogen activator, urokinase JBrowse link NW_004955437 17,995,726 18,000,542 RGD:7240710
RGD:9068941
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa11 homeobox A11 JBrowse link NW_004955410 28,875,780 28,879,643 RGD:9068941
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa11 homeobox A11 JBrowse link NW_004955410 28,875,780 28,879,643 RGD:7240710
RGD:9068941
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecom MDS1 and EVI1 complex locus JBrowse link NW_004955448 18,259,847 18,542,085 RGD:7240710
RGD:9068941
Shwartzman phenomenon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a13 solute carrier family 39 member 13 JBrowse link NW_004955422 845,076 852,772 RGD:7240710
RGD:9068941
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link NW_004955414 19,652,990 19,849,353 RGD:7240710
RGD:9068941
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Macf1 microtubule actin crosslinking factor 1 JBrowse link NW_004955452 16,684,784 17,025,940 RGD:9068941
Takenouchi-Kosaki Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42 cell division cycle 42 JBrowse link NW_004955452 2,255,940 2,299,042 RGD:7240710
RGD:9068941
Thrombocythemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link NW_004955537 2,922,156 2,937,223 RGD:7240710
RGD:9068941
Thrombocythemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insl6 insulin like 6 JBrowse link NW_004955434 9,349,033 9,355,817 RGD:9068941
G Jak2 Janus kinase 2 JBrowse link NW_004955434 9,227,897 9,341,208 RGD:7240710
RGD:9068941
thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link NW_004955441 10,964,588 10,987,771 RGD:9068941
G Abcg8 ATP binding cassette subfamily G member 8 JBrowse link NW_004955441 10,982,307 11,004,789 RGD:9068941
G Acbd5 acyl-CoA binding domain containing 5 JBrowse link NW_004955429 2,623,042 2,661,182 RGD:9068941
G Actn1 actinin alpha 1 JBrowse link NW_004955466 1,388,507 1,480,990 RGD:9068941
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Aspg asparaginase JBrowse link NW_004955538 2,765,215 2,785,390 RGD:9068941
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link NW_004955451 2,705,834 2,820,610 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004955489 8,465,571 8,477,714 RGD:9068941
G Chek2 checkpoint kinase 2 JBrowse link NW_004955455 2,969,113 3,008,004 RGD:9068941
G Col4a4 collagen type IV alpha 4 chain JBrowse link NW_004955453 7,405,167 7,524,038 RGD:9068941
G Csf2 colony stimulating factor 2 JBrowse link NW_004955408 3,452,009 3,454,255 RGD:9068941
G Csf3 colony stimulating factor 3 JBrowse link NW_004955451 14,688,181 14,690,126 RGD:9068941
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link NW_004955441 10,928,577 10,961,194 RGD:9068941
G Epo erythropoietin JBrowse link NW_004955573 203,875 206,078 RGD:9068941
G Etv6 ETS variant transcription factor 6 JBrowse link NW_004955413 8,698,412 8,912,011 RGD:9068941
G F7 coagulation factor VII JBrowse link NW_004955404 685,170 692,797 RGD:9068941
G Fga fibrinogen alpha chain JBrowse link NW_004955471 8,806,964 8,814,671 RGD:9068941
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link NW_004955412 29,653,621 29,773,412 RGD:9068941
G Fyb1 FYN binding protein 1 JBrowse link NW_004955426 23,621,355 23,777,086 RGD:9068941
G Gata1 GATA binding protein 1 JBrowse link NW_004955543 334,581 342,042 RGD:9068941
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link NW_004955513 2,273,267 2,281,850 RGD:9068941
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link NW_004955472 56,623 92,553 RGD:9068941
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link NW_004955467 10,333,537 10,347,488 RGD:9068941
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link NW_004955442 18,359,664 18,360,979 RGD:9068941
G Gp9 glycoprotein IX platelet JBrowse link NW_004955450 10,478,165 10,479,425 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Itga2 integrin subunit alpha 2 JBrowse link NW_004955446 14,309,516 14,421,991 RGD:9068941
G Itga2b integrin subunit alpha 2b JBrowse link NW_004955451 17,381,323 17,392,122 RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:9068941
G Itpa inosine triphosphatase JBrowse link NW_004955415 14,106,786 14,121,975 RGD:9068941
G LOC102023786 cytochrome c, somatic JBrowse link NW_004955410 27,086,405 27,089,255 RGD:9068941
G Mastl microtubule associated serine/threonine kinase like JBrowse link NW_004955429 2,591,173 2,617,084 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link NW_004955537 2,922,156 2,937,223 RGD:9068941
G Mthfr methylenetetrahydrofolate reductase JBrowse link NW_004955486 2,096,379 2,112,240 RGD:9068941
G Myh9 myosin heavy chain 9 JBrowse link NW_004955413 22,881,759 22,972,182 RGD:9068941
G P2ry12 purinergic receptor P2Y12 JBrowse link NW_004955448 2,442,368 2,488,567 RGD:9068941
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link NW_004955478 7,448,584 7,531,860 RGD:9068941
G Runx1 RUNX family transcription factor 1 JBrowse link NW_004955407 34,108,653 34,342,657 RGD:9068941
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link NW_004955451 17,318,600 17,330,943 RGD:9068941
G Sparc secreted protein acidic and cysteine rich JBrowse link NW_004955408 6,100,123 6,122,460 RGD:9068941
G Tbxa2r thromboxane A2 receptor JBrowse link NW_004955495 5,539,382 5,557,441 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tubb1 tubulin beta 1 class VI JBrowse link NW_004955445 569,504 576,129 RGD:9068941
G Was WASP actin nucleation promoting factor JBrowse link NW_004955543 243,618 253,489 RGD:9068941
G Wdr1 WD repeat domain 1 JBrowse link NW_004955549 2,640,193 2,674,818 RGD:9068941
G Yme1l1 YME1 like 1 ATPase JBrowse link NW_004955429 2,550,611 2,572,472 RGD:9068941
Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata1 GATA binding protein 1 JBrowse link NW_004955543 334,581 342,042 RGD:9068941
G Was WASP actin nucleation promoting factor JBrowse link NW_004955543 243,618 253,489 RGD:7240710
RGD:9068941
Thrombocytopenia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mastl microtubule associated serine/threonine kinase like JBrowse link NW_004955429 2,591,173 2,617,084 RGD:9068941
Thrombocytopenia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fyb1 FYN binding protein 1 JBrowse link NW_004955426 23,621,355 23,777,086 RGD:7240710
RGD:9068941
Thrombocytopenia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102023786 cytochrome c, somatic JBrowse link NW_004955410 27,086,405 27,089,255 RGD:7240710
RGD:9068941
THROMBOCYTOPENIA 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Etv6 ETS variant transcription factor 6 JBrowse link NW_004955413 8,698,412 8,912,011 RGD:7240710
RGD:9068941
THROMBOCYTOPENIA 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link NW_004955445 19,213,210 19,227,670 RGD:7240710
RGD:9068941
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b JBrowse link NW_004955437 259,780 264,549 RGD:7240710
RGD:9068941
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata1 GATA binding protein 1 JBrowse link NW_004955543 334,581 342,042 RGD:7240710
RGD:9068941
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd34a ankyrin repeat domain 34A JBrowse link NW_004955568 130,062 134,841 RGD:9068941
G Ankrd35 ankyrin repeat domain 35 JBrowse link NW_004955568 204,422 222,065 RGD:9068941
G Hjv hemojuvelin BMP co-receptor JBrowse link NW_004955568 80,386 84,707 RGD:9068941
G Itga10 integrin subunit alpha 10 JBrowse link NW_004955568 184,399 201,329 RGD:9068941
G Lix1l limb and CNS expressed 1 like JBrowse link NW_004955568 136,482 158,531 RGD:9068941
G Nudt17 nudix hydrolase 17 JBrowse link NW_004955568 236,943 240,273 RGD:9068941
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link NW_004955568 174,770 183,078 RGD:9068941
G Pias3 protein inhibitor of activated STAT 3 JBrowse link NW_004955568 227,603 237,396 RGD:9068941
G Polr3c RNA polymerase III subunit C JBrowse link NW_004955568 242,834 263,053 RGD:9068941
G Polr3gl RNA polymerase III subunit G like JBrowse link NW_004955568 120,475 129,990 RGD:9068941
G Rbm8a RNA binding motif protein 8A JBrowse link NW_004955568 164,050 166,162 RGD:7240710
RGD:9068941
G Txnip thioredoxin interacting protein JBrowse link NW_004955568 103,801 107,791 RGD:9068941
Thrombocytopenic Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp9 glycoprotein IX platelet JBrowse link NW_004955450 10,478,165 10,479,425 RGD:9068941
G Itga2b integrin subunit alpha 2b JBrowse link NW_004955451 17,381,323 17,392,122 RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
thrombocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calr calreticulin JBrowse link NW_004955415 31,985,147 31,989,372 RGD:9068941
G Cpb2 carboxypeptidase B2 JBrowse link NW_004955518 3,740,348 3,803,540 RGD:9068941
G Epor erythropoietin receptor JBrowse link NW_004955495 2,293,587 2,299,302 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Jak2 Janus kinase 2 JBrowse link NW_004955434 9,227,897 9,341,208 RGD:9068941
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link NW_004955537 2,922,156 2,937,223 RGD:9068941
G Thpo thrombopoietin JBrowse link NW_004955420 23,120,828 23,128,894 RGD:9068941
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link NW_004955537 2,922,156 2,937,223 RGD:9068941
Thrombotic Microangiopathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link NW_004955513 2,761,386 2,786,447 RGD:9068941
G C3 complement C3 JBrowse link NW_004955495 2,796,601 2,824,233 RGD:9068941
G Cfi complement factor I JBrowse link NW_004955496 492,217 553,398 RGD:9068941
G Cpb2 carboxypeptidase B2 JBrowse link NW_004955518 3,740,348 3,803,540 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link NW_004955423 254,060 264,448 RGD:9068941
G Fgg fibrinogen gamma chain JBrowse link NW_004955471 8,786,910 8,794,947 RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:9068941
G Mthfr methylenetetrahydrofolate reductase JBrowse link NW_004955486 2,096,379 2,112,240 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004955481 5,197,957 5,232,406 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004955491 5,438,228 5,457,308 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
thrombotic thrombocytopenic purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link NW_004955513 2,761,386 2,786,447 RGD:9068941
RGD:7240710
G Cd36 CD36 molecule JBrowse link NW_004955410 5,003,720 5,120,903 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link NW_004955423 254,060 264,448 RGD:9068941
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link NW_004955459 3,097,229 3,105,566 RGD:9068941
G Tfpi tissue factor pathway inhibitor JBrowse link NW_004955403 10,925,155 11,004,229 RGD:9068941
G Thbd thrombomodulin JBrowse link NW_004955415 30,222,830 30,226,406 RGD:9068941
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link NW_004955513 2,761,386 2,786,447 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
type I Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link NW_004955513 2,761,386 2,786,447 RGD:9068941
G Adamtsl2 ADAMTS like 2 JBrowse link NW_004955513 2,849,310 2,879,130 RGD:9068941
G Ak8 adenylate kinase 8 JBrowse link NW_004955513 2,069,187 2,185,469 RGD:9068941
G Barhl1 BarH like homeobox 1 JBrowse link NW_004955513 1,955,906 1,970,110 RGD:9068941
G Brd3 bromodomain containing 3 JBrowse link NW_004955513 3,145,267 3,164,791 RGD:9068941
G Cacfd1 calcium channel flower domain containing 1 JBrowse link NW_004955513 2,787,098 2,796,132 RGD:9068941
G Cel carboxyl ester lipase JBrowse link NW_004955513 2,324,025 2,382,877 RGD:9068941
G Cfap77 cilia and flagella associated protein 77 JBrowse link NW_004955513 1,834,654 1,951,827 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:7240710
RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
G Dbh dopamine beta-hydroxylase JBrowse link NW_004955513 2,918,085 2,932,481 RGD:9068941
G Ddx31 DEAD-box helicase 31 JBrowse link NW_004955513 1,970,386 2,036,572 RGD:9068941
G Fam163b family with sequence similarity 163 member B JBrowse link NW_004955513 2,880,253 2,903,575 RGD:9068941
G Fcn1 ficolin 1 JBrowse link NW_004955513 3,690,550 3,697,785 RGD:9068941
G Flna filamin A JBrowse link NW_004955580 874,233 895,172 RGD:9068941
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) JBrowse link NW_004955513 2,426,623 2,438,019 RGD:9068941
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link NW_004955513 2,273,267 2,281,850 RGD:9068941
G Glt6d1 glycosyltransferase 6 domain containing 1 JBrowse link NW_004955513 4,792,103 4,812,302 RGD:9068941
G Gtf3c4 general transcription factor IIIC subunit 4 JBrowse link NW_004955513 2,037,312 2,054,451 RGD:9068941
G Gtf3c5 general transcription factor IIIC subunit 5 JBrowse link NW_004955513 2,304,133 2,320,977 RGD:9068941
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link NW_004955513 4,712,772 4,765,657 RGD:9068941
G Lcn9 lipocalin 9 JBrowse link NW_004955513 4,786,615 4,788,768 RGD:9068941
G LOC102027889 chromosome unknown open reading frame, human C9orf116 JBrowse link NW_004955513 4,047,764 4,055,692 RGD:9068941
G Lum lumican JBrowse link NW_004955405 28,299,966 28,307,982 RGD:9068941
G Med12 mediator complex subunit 12 JBrowse link NW_004955475 10,687,168 10,710,286 RGD:9068941
G Med22 mediator complex subunit 22 JBrowse link NW_004955513 2,697,812 2,704,748 RGD:9068941
G Mrps2 mitochondrial ribosomal protein S2 JBrowse link NW_004955513 4,055,814 4,058,507 RGD:9068941
G Myh11 myosin heavy chain 11 JBrowse link NW_004955442 528,317 644,252 RGD:9068941
G Mymk myomaker, myoblast fusion factor JBrowse link NW_004955513 2,835,466 2,842,325 RGD:9068941
G Ntng2 netrin G2 JBrowse link NW_004955513 1,654,398 1,701,062 RGD:9068941
G Olfm1 olfactomedin 1 JBrowse link NW_004955733 6,189 30,455 RGD:9068941
G Pomt1 protein O-mannosyltransferase 1 JBrowse link NW_004955513 1,189,169 1,203,933 RGD:9068941
G Ppp1r26 protein phosphatase 1 regulatory subunit 26 JBrowse link NW_004955513 4,039,819 4,046,482 RGD:9068941
G Ralgds ral guanine nucleotide dissociation stimulator JBrowse link NW_004955513 2,386,293 2,405,161 RGD:9068941
G Rapgef1 Rap guanine nucleotide exchange factor 1 JBrowse link NW_004955513 1,224,418 1,328,176 RGD:9068941
G Rexo4 REX4 homolog, 3'-5' exonuclease JBrowse link NW_004955513 2,745,220 2,754,927 RGD:9068941
G Rpl7a ribosomal protein L7a JBrowse link NW_004955513 2,703,765 2,707,803 RGD:9068941
G Rxra retinoid X receptor alpha JBrowse link NW_004955513 3,313,544 3,386,544 RGD:9068941
G Sardh sarcosine dehydrogenase JBrowse link NW_004955513 2,933,918 2,975,645 RGD:9068941
G Setx senataxin JBrowse link NW_004955513 1,718,432 1,776,133 RGD:9068941
G Slc2a10 solute carrier family 2 member 10 JBrowse link NW_004955445 10,708,147 10,722,109 RGD:9068941
G Slc2a6 solute carrier family 2 member 6 JBrowse link NW_004955513 2,796,086 2,802,051 RGD:9068941
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 JBrowse link NW_004955513 4,767,591 4,771,654 RGD:9068941
G Spaca9 sperm acrosome associated 9 JBrowse link NW_004955513 2,184,878 2,196,367 RGD:9068941
G Stkld1 serine/threonine kinase like domain containing 1 JBrowse link NW_004955513 2,726,339 2,745,099 RGD:9068941
G Surf1 surfeit 1 JBrowse link NW_004955513 2,707,877 2,711,606 RGD:9068941
G Surf2 surfeit 2 JBrowse link NW_004955513 2,711,605 2,715,667 RGD:9068941
G Surf4 surfeit 4 JBrowse link NW_004955513 2,715,638 2,719,537 RGD:9068941
G Surf6 surfeit 6 JBrowse link NW_004955513 2,691,648 2,696,018 RGD:9068941
G Tgfbr1 transforming growth factor beta receptor 1 JBrowse link NW_004955419 26,490,899 26,546,349 RGD:9068941
G Tsc1 TSC complex subunit 1 JBrowse link NW_004955513 2,197,037 2,244,992 RGD:9068941
G Ttf1 transcription termination factor 1 JBrowse link NW_004955513 1,804,690 1,829,705 RGD:9068941
G Uck1 uridine-cytidine kinase 1 JBrowse link NW_004955513 1,203,934 1,208,720 RGD:9068941
G Vav2 vav guanine nucleotide exchange factor 2 JBrowse link NW_004955513 2,985,246 3,121,324 RGD:9068941
G Wdr5 WD repeat domain 5 JBrowse link NW_004955513 3,198,655 3,213,754 RGD:9068941
type II Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:7240710
RGD:9068941
type III Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:9068941
G Notch1 notch receptor 1 JBrowse link NW_004955513 4,225,939 4,264,875 RGD:9068941
G Tnxb tenascin XB JBrowse link NW_004955437 516,713 561,188 RGD:9068941
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link NW_004955545 2,381,091 2,382,114 RGD:9068941
G Ggcx gamma-glutamyl carboxylase JBrowse link NW_004955424 1,926,924 1,952,635 RGD:9068941
von Willebrand's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F3 coagulation factor III, tissue factor JBrowse link NW_004955423 254,060 264,448 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
von Willebrand's disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link NW_004955446 14,309,516 14,421,991 RGD:9068941
G Itga2b integrin subunit alpha 2b JBrowse link NW_004955451 17,381,323 17,392,122 RGD:9068941
G Plat plasminogen activator, tissue type JBrowse link NW_004955536 730,962 754,333 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:7240710
RGD:9068941
von Willebrand's disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link NW_004955594 658,686 800,101 RGD:9068941
G Itga2 integrin subunit alpha 2 JBrowse link NW_004955446 14,309,516 14,421,991 RGD:9068941
G Itga2b integrin subunit alpha 2b JBrowse link NW_004955451 17,381,323 17,392,122 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:7240710
RGD:9068941
von Willebrand's disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:7240710
RGD:9068941
Waldenstroem's macroglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link NW_004955440 3,456,165 3,460,024 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Irf4 interferon regulatory factor 4 JBrowse link NW_004955465 12,497,534 12,512,529 RGD:9068941
G Myd88 MYD88 innate immune signal transduction adaptor JBrowse link NW_004955427 25,553,589 25,557,654 RGD:7240710
RGD:9068941
Wiskott-Aldrich syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp3 forkhead box P3 JBrowse link NW_004955543 731,707 742,606 RGD:9068941
G Was WASP actin nucleation promoting factor JBrowse link NW_004955543 243,618 253,489 RGD:7240710
RGD:9068941
G Wipf1 WAS/WASL interacting protein family member 1 JBrowse link NW_004955449 760,382 831,007 RGD:9068941
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wipf1 WAS/WASL interacting protein family member 1 JBrowse link NW_004955449 760,382 831,007 RGD:7240710
RGD:9068941
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata1 GATA binding protein 1 JBrowse link NW_004955543 334,581 342,042 RGD:7240710
RGD:9068941
X-Linked Thrombocytopenia, Intermittent term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Was WASP actin nucleation promoting factor JBrowse link NW_004955543 243,618 253,489 RGD:9068941
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata1 GATA binding protein 1 JBrowse link NW_004955543 334,581 342,042 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11322
    disease of anatomical entity 10993
      hematopoietic system disease 1282
        hemorrhagic disease 435
          Bernard-Soulier syndrome + 4
          Familial Hemorrhagic Diathesis due to Antithrombin 0
          Glanzmann's thrombasthenia + 4
          Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
          Plasminogen Activator Inhibitor-1 Deficiency 7
          Waterhouse-Friderichsen syndrome + 0
          Wiskott-Aldrich syndrome + 3
          alpha-2-plasmin inhibitor deficiency 1
          blood platelet disease + 164
          congenital afibrinogenemia + 5
          disseminated intravascular coagulation + 15
          essential thrombocythemia 21
          factor V deficiency + 5
          factor VII deficiency 2
          factor VIII deficiency + 17
          factor X deficiency 3
          factor XI deficiency 1
          factor XII deficiency 2
          factor XIII deficiency + 3
          hemophilia B 7
          platelet storage pool deficiency + 25
          prothrombin deficiency + 2
          purpura + 42
          vascular hemostatic disease + 247
          vitamin K deficiency bleeding 2
          von Willebrand's disease + 7
Path 2
Term Annotations click to browse term
  disease 11322
    disease of anatomical entity 10993
      Hemic and Lymphatic Diseases 1527
        hematopoietic system disease 1282
          blood coagulation disease 447
            hemorrhagic disease 435
              Bernard-Soulier syndrome + 4
              Familial Hemorrhagic Diathesis due to Antithrombin 0
              Glanzmann's thrombasthenia + 4
              Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
              Plasminogen Activator Inhibitor-1 Deficiency 7
              Waterhouse-Friderichsen syndrome + 0
              Wiskott-Aldrich syndrome + 3
              alpha-2-plasmin inhibitor deficiency 1
              blood platelet disease + 164
              congenital afibrinogenemia + 5
              disseminated intravascular coagulation + 15
              essential thrombocythemia 21
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 17
              factor X deficiency 3
              factor XI deficiency 1
              factor XII deficiency 2
              factor XIII deficiency + 3
              hemophilia B 7
              platelet storage pool deficiency + 25
              prothrombin deficiency + 2
              purpura + 42
              vascular hemostatic disease + 247
              vitamin K deficiency bleeding 2
              von Willebrand's disease + 7
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.