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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 14 68,335,694 68,440,836 RGD:9068941
G ARVCF ARVCF delta catenin family member JBrowse link 22 18,403,239 18,449,183 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COMT catechol-O-methyltransferase JBrowse link 22 18,375,434 18,402,387 RGD:9068941
G DGCR8 DGCR8 microprocessor complex subunit JBrowse link 22 18,518,789 18,544,740 RGD:9068941
G F10 coagulation factor X JBrowse link 13 113,332,124 113,358,660 RGD:9068941
G F11 coagulation factor XI JBrowse link 4 190,643,733 190,666,512 RGD:9068941
G F5 coagulation factor V JBrowse link 1 148,718,748 148,791,049 RGD:9068941
G F7 coagulation factor VII JBrowse link 13 113,315,868 113,329,995 RGD:9068941
G F8 coagulation factor VIII JBrowse link X 154,156,864 154,345,635 RGD:9068941
G FGA fibrinogen alpha chain JBrowse link 4 158,767,782 158,775,414 RGD:9068941
G FGB fibrinogen beta chain JBrowse link 4 158,747,659 158,755,766 RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 4 158,788,761 158,797,460 RGD:9068941
G GGCX gamma-glutamyl carboxylase JBrowse link 2A 87,152,108 87,164,567 RGD:9068941
G GNAS GNAS complex locus JBrowse link 20 56,460,906 56,620,313 RGD:9068941
G GNB1L G protein subunit beta 1 like JBrowse link 22 18,222,195 18,289,580 RGD:9068941
G GP6 glycoprotein VI platelet JBrowse link 19 60,746,578 60,770,643 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:9068941
G KLHL22 kelch like family member 22 JBrowse link 22 19,126,658 19,174,839 RGD:9068941
G LOC100969680 protein S JBrowse link 3 97,615,734 97,719,057 RGD:9068941
G MED15 mediator complex subunit 15 JBrowse link 22 19,191,880 19,272,884 RGD:9068941
G RANBP1 RAN binding protein 1 JBrowse link 22 18,550,699 18,560,875 RGD:9068941
G RASGRP2 RAS guanyl releasing protein 2 JBrowse link 11 63,423,112 63,443,240 RGD:9068941
G RTL10 retrotransposon Gag like 10 JBrowse link 22 18,280,768 18,289,527 RGD:9068941
G RTN4R reticulon 4 receptor JBrowse link 22 18,673,548 18,675,537 RGD:9068941
G SCARF2 scavenger receptor class F member 2 JBrowse link 22 19,110,083 19,125,371 RGD:9068941
G SEPTIN5 septin 5 JBrowse link 22 18,150,865 18,159,697 RGD:9068941
G SERPIND1 serpin family D member 1 JBrowse link 22 19,488,733 19,502,380 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G SERPINF2 serpin family F member 2 JBrowse link 17 1,618,426 1,631,571 RGD:9068941
G TANGO2 transport and golgi organization 2 homolog JBrowse link 22 18,449,381 18,497,886 RGD:9068941
G TBX1 T-box transcription factor 1 JBrowse link 22 18,192,954 18,213,786 RGD:9068941
G TBXA2R thromboxane A2 receptor JBrowse link 19 3,572,454 3,581,924 RGD:9068941
G THBD thrombomodulin JBrowse link 20 23,343,758 23,347,966 RGD:9068941
G TRMT2A tRNA methyltransferase 2 homolog A JBrowse link 22 18,544,736 18,550,174 RGD:9068941
G TXNRD2 thioredoxin reductase 2 JBrowse link 22 18,310,134 18,375,681 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 RGD:9068941
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 JBrowse link 22 18,562,958 18,580,330 RGD:9068941
G ZNF74 zinc finger protein 74 JBrowse link 22 19,080,537 19,094,835 RGD:9068941
Acute Traumatic Coagulopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLAT plasminogen activator, tissue type JBrowse link 8 38,864,918 38,897,776 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 17 1,618,426 1,631,571 RGD:7240710
RGD:9068941
atypical hemolytic-uremic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2 complement C2 JBrowse link 6 32,476,791 32,492,982 RGD:9068941
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
RGD:7240710
G C3AR1 complement C3a receptor 1 JBrowse link 12 8,220,505 8,228,480 RGD:9068941
G CD46 CD46 molecule JBrowse link 1 188,138,616 188,182,046 RGD:9068941
RGD:7240710
G CFB complement factor B JBrowse link 6 32,492,982 32,499,396 RGD:9068941
RGD:7240710
G CFH complement factor H JBrowse link 1 176,434,107 176,507,049 RGD:9068941
RGD:7240710
G CFI complement factor I JBrowse link 4 112,804,645 112,865,581 RGD:9068941
RGD:7240710
G DGKE diacylglycerol kinase epsilon JBrowse link 17 55,773,896 55,803,315 RGD:9068941
G THBD thrombomodulin JBrowse link 20 23,343,758 23,347,966 RGD:9068941
RGD:7240710
autoimmune thrombocytopenic purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 56,605,322 56,622,418 RGD:9068941
G CD40 CD40 molecule JBrowse link 20 43,541,619 43,552,994 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G CD86 CD86 molecule JBrowse link 3 126,059,008 126,124,339 RGD:9068941
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 2A 25,331,095 25,441,785 RGD:9068941
G DNMT3B DNA methyltransferase 3 beta JBrowse link 20 30,169,081 30,215,487 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 10 89,199,070 89,244,884 RGD:9068941
G FCGR2A Fc fragment of IgG receptor IIa RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 17 4,968,328 4,970,711 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL18 interleukin 18 JBrowse link 11 110,867,586 110,888,371 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 2A 113,784,854 113,795,801 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G IL2 interleukin 2 JBrowse link 4 125,782,563 125,787,819 RGD:9068941
G IL4 interleukin 4 JBrowse link 5 134,253,039 134,261,581 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:9068941
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain JBrowse link 6 33,353,599 33,360,284 RGD:9068941
G LOC100984838 low affinity immunoglobulin gamma Fc region receptor II-b JBrowse link 1 140,882,104 140,890,036 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 8 38,864,918 38,897,776 RGD:9068941
G PTPN22 protein tyrosine phosphatase non-receptor type 22 JBrowse link 1 123,734,511 123,790,830 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 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 20 56,730,882 56,738,741 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 22 35,039,461 35,121,618 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 2B 194,204,613 194,242,956 RGD:9068941
RGD:7240710
Bernard-Soulier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 17 4,968,328 4,970,711 RGD:7240710
RGD:9068941
G GP9 glycoprotein IX platelet JBrowse link 3 133,479,202 133,480,843 RGD:7240710
RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 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 17 4,968,328 4,970,711 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 17 4,968,328 4,970,711 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 17 4,968,328 4,970,711 RGD:9068941
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP9 glycoprotein IX platelet JBrowse link 3 133,479,202 133,480,843 RGD:9068941
blood platelet disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD26 ankyrin repeat domain 26 JBrowse link 10 27,476,968 27,572,433 RGD:9068941
G CD36 CD36 molecule JBrowse link 7 86,228,856 86,305,865 RGD:9068941
G FERMT3 fermitin family member 3 JBrowse link 11 62,909,030 62,928,191 RGD:9068941
G PLA2G4A phospholipase A2 group IVA JBrowse link 1 166,512,870 166,672,114 RGD:9068941
G TBXA2R thromboxane A2 receptor JBrowse link 19 3,572,454 3,581,924 RGD:9068941
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 15 37,660,619 37,662,436 RGD:9068941
G PRDM5 PR/SET domain 5 JBrowse link 4 124,036,911 124,252,056 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 16 88,800,542 88,816,811 RGD:9068941
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM5 PR/SET domain 5 JBrowse link 4 124,036,911 124,252,056 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 16 88,800,542 88,816,811 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 4 124,036,911 124,252,056 RGD:7240710
RGD:9068941
Cardiac Valvular Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A RGD:7240710
RGD:9068941
cavernous hemangioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCM2 CCM2 scaffold protein JBrowse link 7 45,808,339 45,856,966 RGD:9068941
G KRIT1 KRIT1 ankyrin repeat containing JBrowse link 7 97,794,527 97,841,099 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 7 97,841,233 97,995,816 RGD:9068941
G CCM2 CCM2 scaffold protein JBrowse link 7 45,808,339 45,856,966 RGD:9068941
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 13 27,926,256 28,120,493 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 75,377,847 75,424,927 RGD:9068941
G KRIT1 KRIT1 ankyrin repeat containing JBrowse link 7 97,794,527 97,841,099 RGD:9068941
RGD:7240710
G PDCD10 programmed cell death 10 JBrowse link 3 172,760,923 172,811,900 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 7 100,841,286 100,867,493 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 10 88,093,539 88,197,902 RGD:9068941
G SERPINI1 serpin family I member 1 JBrowse link 3 172,812,348 172,902,372 RGD:9068941
cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRIT1 KRIT1 ankyrin repeat containing JBrowse link 7 97,794,527 97,841,099 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 7 45,808,339 45,856,966 RGD:7240710
RGD:9068941
G NACAD NAC alpha domain containing JBrowse link 7 45,861,001 45,869,388 RGD:9068941
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDCD10 programmed cell death 10 JBrowse link 3 172,760,923 172,811,900 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 2B 173,664,518 173,776,233 RGD:9068941
G CFI complement factor I JBrowse link 4 112,804,645 112,865,581 RGD:9068941
G FGA fibrinogen alpha chain JBrowse link 4 158,767,782 158,775,414 RGD:7240710
RGD:9068941
G FGB fibrinogen beta chain JBrowse link 4 158,747,659 158,755,766 RGD:7240710
RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 4 158,788,761 158,797,460 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 1 44,018,395 44,034,492 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 3 31,771,271 31,873,389 RGD:7240710
RGD:9068941
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGA fibrinogen alpha chain JBrowse link 4 158,767,782 158,775,414 RGD:9068941
G FGB fibrinogen beta chain JBrowse link 4 158,747,659 158,755,766 RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 4 158,788,761 158,797,460 RGD:9068941
cryoglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB1 ATP binding cassette subfamily B member 1 JBrowse link 7 93,147,217 93,355,231 RGD:9068941
G CD86 CD86 molecule JBrowse link 3 126,059,008 126,124,339 RGD:9068941
G TCN2 transcobalamin 2 JBrowse link 22 29,435,506 29,455,494 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TSLP thymic stromal lymphopoietin JBrowse link 5 112,242,490 112,249,200 RGD:9068941
disseminated intravascular coagulation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELANE elastase, neutrophil expressed JBrowse link 19 820,455 828,181 RGD:9068941
G F13A1 coagulation factor XIII A chain JBrowse link 6 6,159,012 6,337,000 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 11 47,227,891 47,249,157 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link 1 95,918,359 95,931,050 RGD:9068941
G F7 coagulation factor VII JBrowse link 13 113,315,868 113,329,995 RGD:9068941
G FGA fibrinogen alpha chain JBrowse link 4 158,767,782 158,775,414 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 8 38,864,918 38,897,776 RGD:9068941
G PROC protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 2B 128,083,794 128,094,625 RGD:9068941
G SERPINC1 serpin family C member 1 JBrowse link 1 153,126,031 153,139,369 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G TFPI tissue factor pathway inhibitor JBrowse link 2B 192,541,881 192,631,867 RGD:9068941
G THBD thrombomodulin JBrowse link 20 23,343,758 23,347,966 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 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 10 99,889,021 99,947,452 RGD:9068941
G DPYD dihydropyrimidine dehydrogenase JBrowse link 1 98,457,934 99,300,094 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 2A 113,784,854 113,795,801 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 17 63,511,784 63,601,241 RGD:9068941
Dysfibrinogenemia, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGA fibrinogen alpha chain JBrowse link 4 158,767,782 158,775,414 RGD:7240710
RGD:9068941
G FGB fibrinogen beta chain JBrowse link 4 158,747,659 158,755,766 RGD:7240710
RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 4 158,788,761 158,797,460 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 7 99,935,185 99,971,810 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 5 181,554,934 181,785,167 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G COL3A1 collagen type III alpha 1 chain JBrowse link 2B 194,204,613 194,242,956 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 RGD:9068941
G DCN decorin JBrowse link 12 91,994,129 92,031,258 RGD:9068941
G FLNA filamin A RGD:9068941
G LOC100992963 tenascin-X JBrowse link 6 32,572,833 32,637,194 RGD:9068941
G LOX lysyl oxidase JBrowse link 5 123,233,359 123,248,658 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 RGD:9068941
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,910,552 47,918,014 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100992963 tenascin-X JBrowse link 6 32,572,833 32,637,194 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 1 1,188,683 1,191,648 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 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 2B 194,204,613 194,242,956 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 RGD:9068941
G SLC40A1 solute carrier family 40 member 1 JBrowse link 2B 194,787,575 194,808,129 RGD:9068941
G WDR75 WD repeat domain 75 JBrowse link 2B 194,668,211 194,702,343 RGD:9068941
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 56,605,322 56,622,418 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1R complement C1r JBrowse link 12 7,126,723 7,137,895 RGD:9068941
RGD:7240710
G C1S complement C1s JBrowse link 12 7,107,214 7,117,614 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 7 99,935,185 99,971,810 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 7 44,886,238 44,896,194 RGD:9068941
RGD:7240710
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP14 FKBP prolyl isomerase 14 JBrowse link 7 30,758,165 30,772,640 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 15 37,660,619 37,662,436 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 6 118,347,786 118,386,201 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 12 7,126,723 7,137,895 RGD:9068941
G C1S complement C1s JBrowse link 12 7,107,214 7,117,614 RGD:9068941
RGD:7240710
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 1 1,188,683 1,191,648 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 4 56,605,322 56,622,418 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:7240710
RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 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 5 181,554,934 181,785,167 RGD:7240710
RGD:9068941
essential thrombocythemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATG2B autophagy related 2B JBrowse link 14 96,233,322 96,314,881 RGD:9068941
G BDKRB1 bradykinin receptor B1 JBrowse link 14 96,208,312 96,221,049 RGD:9068941
G BDKRB2 bradykinin receptor B2 JBrowse link 14 96,157,122 96,196,253 RGD:9068941
G C14H14orf132 chromosome 14 C14orf132 homolog JBrowse link 14 95,992,446 96,040,079 RGD:9068941
G CALR calreticulin JBrowse link 19 13,242,900 13,249,416 RGD:7240710
RGD:9068941
G CD36 CD36 molecule JBrowse link 7 86,228,856 86,305,865 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G CUX2 cut like homeobox 2 JBrowse link 12 112,143,682 112,313,451 RGD:9068941
G ELANE elastase, neutrophil expressed JBrowse link 19 820,455 828,181 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 4 126,149,750 126,220,774 RGD:9068941
G GSKIP GSK3B interacting protein JBrowse link 14 96,331,789 96,339,378 RGD:9068941
G IFNA2 interferon alpha 2 JBrowse link 9 21,862,557 21,863,690 RGD:9068941
G JAK2 Janus kinase 2 JBrowse link 9 5,006,271 5,156,626 RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 1 44,018,395 44,034,492 RGD:9068941
G MYB MYB proto-oncogene, transcription factor JBrowse link 6 136,974,525 137,086,194 RGD:9068941
G PDGFA platelet derived growth factor subunit A JBrowse link 7 872,204 888,870 RGD:9068941
G PDGFB platelet derived growth factor subunit B JBrowse link 22 37,944,018 37,964,883 RGD:9068941
G SH2B3 SH2B adaptor protein 3 JBrowse link 12 112,371,797 112,418,746 RGD:7240710
RGD:9068941
G TCL1A T cell leukemia/lymphoma 1A JBrowse link 14 95,664,120 95,667,375 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G THPO thrombopoietin JBrowse link 3 189,891,025 189,897,429 RGD:7240710
RGD:9068941
G VCAM1 vascular cell adhesion molecule 1 JBrowse link 1 102,091,121 102,108,494 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 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 13 102,892,037 102,974,974 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 2A 47,950,679 47,962,005 RGD:7240710
RGD:9068941
factor V deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F5 coagulation factor V JBrowse link 1 148,718,748 148,791,049 RGD:7240710
RGD:9068941
G LMAN1 lectin, mannose binding 1 JBrowse link 18 56,049,292 56,080,531 RGD:9068941
G TFPI tissue factor pathway inhibitor JBrowse link 2B 192,541,881 192,631,867 RGD:9068941
factor VII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link 13 113,332,124 113,358,660 RGD:9068941
G F7 coagulation factor VII JBrowse link 13 113,315,868 113,329,995 RGD:7240710
RGD:9068941
factor VIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G C5 complement C5 JBrowse link 9 120,416,256 120,548,366 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G CFB complement factor B JBrowse link 6 32,492,982 32,499,396 RGD:9068941
G CFP complement factor properdin JBrowse link X 47,956,191 47,961,965 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 11 47,227,891 47,249,157 RGD:9068941
G F8 coagulation factor VIII JBrowse link X 154,156,864 154,345,635 RGD:7240710
RGD:9068941
G F9 coagulation factor IX JBrowse link X 138,934,144 138,967,180 RGD:9068941
G FCGR2A Fc fragment of IgG receptor IIa RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 22 34,230,825 34,244,063 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 8 38,864,918 38,897,776 RGD:9068941
G TFPI tissue factor pathway inhibitor JBrowse link 2B 192,541,881 192,631,867 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 RGD:9068941
Factor VIII Deficiency, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link X 154,156,864 154,345,635 RGD:9068941
factor X deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link 13 113,332,124 113,358,660 RGD:7240710
RGD:9068941
G F11 coagulation factor XI JBrowse link 4 190,643,733 190,666,512 RGD:9068941
G F7 coagulation factor VII JBrowse link 13 113,315,868 113,329,995 RGD:9068941
factor XI deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F11 coagulation factor XI JBrowse link 4 190,643,733 190,666,512 RGD:7240710
RGD:9068941
factor XII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 5 179,766,089 179,773,854 RGD:7240710
RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 179,748,492 179,762,804 RGD:9068941
factor XIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13A1 coagulation factor XIII A chain JBrowse link 6 6,159,012 6,337,000 RGD:9068941
G F13B coagulation factor XIII B chain JBrowse link 1 176,938,155 176,965,609 RGD:9068941
G LMAN1 lectin, mannose binding 1 JBrowse link 18 56,049,292 56,080,531 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 6 6,159,012 6,337,000 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 1 176,938,155 176,965,609 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 3 13,066,133 13,102,246 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 18 56,049,292 56,080,531 RGD:7240710
RGD:9068941
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit JBrowse link 2A 47,950,679 47,962,005 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 21 34,526,631 34,788,930 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 5 62,554,387 62,659,641 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 17 13,176,843 13,193,269 RGD:7240710
RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 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 3 47,923,673 47,981,073 RGD:9068941
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 9 132,692,343 132,742,326 RGD:9068941
G NBEAL2 neurobeachin like 2 JBrowse link 3 47,991,098 48,011,147 RGD:7240710
RGD:9068941
hemolytic-uremic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 56,605,322 56,622,418 RGD:9068941
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CD36 CD36 molecule JBrowse link 7 86,228,856 86,305,865 RGD:9068941
G CD46 CD46 molecule JBrowse link 1 188,138,616 188,182,046 RGD:9068941
G CFB complement factor B JBrowse link 6 32,492,982 32,499,396 RGD:9068941
G CFH complement factor H JBrowse link 1 176,434,107 176,507,049 RGD:9068941
G CFI complement factor I JBrowse link 4 112,804,645 112,865,581 RGD:9068941
G DGKE diacylglycerol kinase epsilon JBrowse link 17 55,773,896 55,803,315 RGD:9068941
G EPO erythropoietin JBrowse link 7 106,148,062 106,150,974 RGD:9068941
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 14 74,676,316 74,679,766 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 2A 113,784,854 113,795,801 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G NQO1 NAD(P)H quinone dehydrogenase 1 JBrowse link 16 69,472,529 69,489,731 RGD:9068941
G PLA2G7 phospholipase A2 group VII JBrowse link 6 47,558,861 47,590,212 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 8 38,864,918 38,897,776 RGD:9068941
G THBD thrombomodulin JBrowse link 20 23,343,758 23,347,966 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
hemophilia B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP11C ATPase phospholipid transporting 11C JBrowse link X 139,130,224 139,335,751 RGD:9068941
G CXHXorf66 chromosome X CXorf66 homolog JBrowse link X 139,356,755 139,366,559 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 11 47,227,891 47,249,157 RGD:9068941
G F8 coagulation factor VIII JBrowse link X 154,156,864 154,345,635 RGD:9068941
G F9 coagulation factor IX JBrowse link X 138,934,144 138,967,180 RGD:7240710
RGD:9068941
G MCF2 MCF.2 cell line derived transforming sequence JBrowse link X 138,985,456 139,047,015 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 11 132,783,580 132,864,657 RGD:7240710
RGD:9068941
Henoch-Schoenlein purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGT angiotensinogen JBrowse link 1 211,279,015 211,291,044 RGD:9068941
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CD86 CD86 molecule JBrowse link 3 126,059,008 126,124,339 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 22 34,230,825 34,244,063 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G IL5 interleukin 5 JBrowse link 5 134,119,608 134,121,682 RGD:9068941
G KNG1 kininogen 1 JBrowse link 3 192,219,675 192,245,318 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,354,981 3,368,970 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 8 38,864,918 38,897,776 RGD:9068941
G PLAU plasminogen activator, urokinase JBrowse link 10 73,104,808 73,113,136 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 7 100,841,286 100,867,493 RGD:9068941
Heparin-induced Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FCGR2A Fc fragment of IgG receptor IIa RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 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 12 37,615,888 37,631,691 RGD:9068941
G ENG endoglin JBrowse link 9 127,605,608 127,644,641 RGD:9068941
G GDF2 growth differentiation factor 2 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 18 47,692,311 47,802,530 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 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 12 37,615,888 37,631,691 RGD:9068941
G ENG endoglin JBrowse link 9 127,605,608 127,644,641 RGD:7240710
RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 18 47,692,311 47,802,530 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 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 12 37,615,888 37,631,691 RGD:7240710
RGD:9068941
G ENG endoglin JBrowse link 9 127,605,608 127,644,641 RGD:9068941
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF2 growth differentiation factor 2 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 5 37,502,986 37,835,904 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 4 6,787,798 6,789,100 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 6 8,133,721 8,184,127 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 42,862,114 42,882,321 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 21,210,798 21,219,172 RGD:9068941
G CP ceruloplasmin JBrowse link 3 153,768,362 153,817,591 RGD:9068941
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 2B 140,185,803 140,189,626 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 RGD:9068941
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 25,235,761 25,268,699 RGD:9068941
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 17,991,610 18,042,848 RGD:9068941
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,139,235 102,142,002 RGD:9068941
G KXD1 KxDL motif containing 1 JBrowse link 19 19,005,136 19,016,552 RGD:9068941
G RAB38 RAB38, member RAS oncogene family JBrowse link 11 86,710,358 86,772,796 RGD:9068941
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 14 23,165,254 23,171,339 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 4 141,841,526 141,919,678 RGD:9068941
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 19 50,713,498 50,727,579 RGD:9068941
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 123,200,964 123,236,132 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 19 2,084,349 2,135,058 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:7240710
RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 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 19 2,084,349 2,135,058 RGD:9068941
RGD:7240710
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 5 37,502,986 37,835,904 RGD:7240710
RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 3 153,768,362 153,817,591 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 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 22 25,235,761 25,268,699 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 11 17,991,610 18,042,848 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 10 102,139,235 102,142,002 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 6 15,741,698 15,887,039 RGD:7240710
RGD:9068941
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 15 42,862,114 42,882,321 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 20 49,252,320 49,272,973 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 11 127,409,301 127,527,521 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 15 64,284,949 64,414,185 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 18 47,692,311 47,802,530 RGD:7240710
RGD:9068941
Kaposiform Hemangioendothelioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF2 fibroblast growth factor 2 JBrowse link 4 126,149,750 126,220,774 RGD:9068941
G GNA14 G protein subunit alpha 14 JBrowse link 9 76,276,687 76,504,137 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 4 91,101,321 91,170,418 RGD:9068941
G ALB albumin JBrowse link 4 56,605,322 56,622,418 RGD:9068941
G APOE apolipoprotein E JBrowse link 19 50,459,906 50,463,490 RGD:9068941
G ARID4A AT-rich interaction domain 4A JBrowse link 14 57,159,518 57,233,825 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 11 106,584,228 106,728,457 RGD:9068941
G AURKA aurora kinase A JBrowse link 20 53,994,880 54,017,381 RGD:9068941
G B2M beta-2-microglobulin JBrowse link 15 41,836,321 41,842,991 RGD:9068941
G BAP1 BRCA1 associated protein 1 JBrowse link 3 53,573,785 53,581,943 RGD:9068941
G BARD1 BRCA1 associated RING domain 1 JBrowse link 2B 220,456,972 220,541,145 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 18 59,797,184 59,993,298 RGD:9068941
G BCL2L1 BCL2 like 1 JBrowse link 20 29,088,055 29,147,066 RGD:9068941
G BCL2L10 BCL2 like 10 JBrowse link 15 49,376,576 49,380,109 RGD:9068941
G BCORL1 BCL6 corepressor like 1 JBrowse link X 129,402,314 129,479,302 RGD:9068941
G BNIP3 BCL2 interacting protein 3 JBrowse link 10 132,857,375 132,871,628 RGD:9068941
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 145,124,291 145,327,115 RGD:9068941
G BTG1 BTG anti-proliferation factor 1 JBrowse link 12 92,991,624 92,994,379 RGD:9068941
G CBL Cbl proto-oncogene JBrowse link 11 117,973,187 118,076,459 RGD:9068941
G CBX7 chromobox 7 JBrowse link 22 37,854,049 37,876,861 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCND1 cyclin D1 JBrowse link 11 68,029,134 68,041,553 RGD:7240710
RGD:9068941
G CCND2 cyclin D2 JBrowse link 12 4,309,272 4,340,893 RGD:9068941
G CCND3 cyclin D3 JBrowse link 6 42,820,569 42,932,944 RGD:9068941
G CD40 CD40 molecule JBrowse link 20 43,541,619 43,552,994 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G CD46 CD46 molecule JBrowse link 1 188,138,616 188,182,046 RGD:9068941
G CD86 CD86 molecule JBrowse link 3 126,059,008 126,124,339 RGD:9068941
G CDK4 cyclin dependent kinase 4 JBrowse link 12 31,434,594 31,438,876 RGD:9068941
G CDKN2A cyclin dependent kinase inhibitor 2A JBrowse link 9 22,420,748 22,447,243 RGD:9068941
G CDKN2C cyclin dependent kinase inhibitor 2C JBrowse link 1 51,704,528 51,718,374 RGD:9068941
G CHI3L1 chitinase 3 like 1 JBrowse link 1 183,073,287 183,083,229 RGD:9068941
G CRBN cereblon JBrowse link 3 3,195,361 3,225,345 RGD:9068941
G CREBBP CREB binding protein JBrowse link 16 3,820,507 3,974,200 RGD:9068941
G CSF2 colony stimulating factor 2 JBrowse link 5 133,660,775 133,663,146 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 17 17,491,272 17,493,729 RGD:9068941
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 2B 209,239,417 209,244,498 RGD:9068941
G CYLD CYLD lysine 63 deubiquitinase JBrowse link 16 49,882,751 49,942,629 RGD:9068941
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 13 72,760,610 72,787,325 RGD:9068941
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 2A 25,331,095 25,441,785 RGD:9068941
G EIF1AX eukaryotic translation initiation factor 1A, X-linked JBrowse link X 20,103,872 20,123,464 RGD:9068941
G ENG endoglin JBrowse link 9 127,605,608 127,644,641 RGD:9068941
G EPHX1 epoxide hydrolase 1 JBrowse link 1 206,272,866 206,307,581 RGD:9068941
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 50,951,674 50,994,600 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G ERF ETS2 repressor factor JBrowse link 19 47,728,192 47,735,808 RGD:9068941
G FASLG Fas ligand JBrowse link 1 151,868,430 151,876,281 RGD:9068941
G FAT1 FAT atypical cadherin 1 JBrowse link 4 190,952,728 191,093,357 RGD:9068941
G FCGR2A Fc fragment of IgG receptor IIa RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 4 158,788,761 158,797,460 RGD:9068941
G FLT3 fms related receptor tyrosine kinase 3 JBrowse link 13 27,627,178 27,694,863 RGD:9068941
G FLT3LG fms related receptor tyrosine kinase 3 ligand JBrowse link 19 55,410,448 55,422,545 RGD:9068941
G GPX1 glutathione peroxidase 1 JBrowse link 3 50,360,736 50,362,274 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 66,253,421 66,256,472 RGD:9068941
G H1-4 H1.4 linker histone, cluster member JBrowse link 6 26,652,095 26,667,063 RGD:9068941
G HDAC4 histone deacetylase 4 JBrowse link 2B 245,123,061 245,428,441 RGD:9068941
G HFE homeostatic iron regulator JBrowse link 6 26,580,358 26,588,591 RGD:9068941
G HK1 hexokinase 1 JBrowse link 10 68,289,288 68,401,045 RGD:9068941
G HRAS HRas proto-oncogene, GTPase JBrowse link 11 568,305 571,078 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 82,751,385 82,753,109 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 19 10,484,414 10,500,605 RGD:9068941
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 JBrowse link 2B 213,599,036 213,628,840 RGD:9068941
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 15 87,972,883 87,991,270 RGD:9068941
G IFNA2 interferon alpha 2 JBrowse link 9 21,862,557 21,863,690 RGD:9068941
G IGF2R insulin like growth factor 2 receptor JBrowse link 6 162,884,786 162,983,968 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 2A 113,784,854 113,795,801 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G IL4R interleukin 4 receptor JBrowse link 16 27,686,760 27,737,445 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G IL7R interleukin 7 receptor JBrowse link 5 79,769,859 79,792,566 RGD:9068941
G IRF4 interferon regulatory factor 4 JBrowse link 6 341,637 360,492 RGD:9068941
G KDM5C lysine demethylase 5C JBrowse link X 53,486,874 53,548,785 RGD:9068941
G KMT2C lysine methyltransferase 2C JBrowse link 7 155,860,699 156,081,038 RGD:9068941
G KMT2D lysine methyltransferase 2D JBrowse link 12 40,570,152 40,611,463 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 63,679,293 63,724,335 RGD:9068941
G LATS1 large tumor suppressor kinase 1 JBrowse link 6 152,182,394 152,239,276 RGD:9068941
G LIG4 DNA ligase 4 JBrowse link 13 108,474,718 108,485,421 RGD:7240710
RGD:9068941
G LOC100976184 cytochrome P450 1A1 JBrowse link 15 73,284,566 73,290,636 RGD:9068941
G LOC100988670 histone H2A type 1 JBrowse link 6 28,369,843 28,370,588 RGD:9068941
G LOC100989678 histone H2A type 1 JBrowse link 6 28,396,473 28,397,080 RGD:9068941
G LOC100995695 cytochrome P450 2C19 JBrowse link 10 94,883,037 94,972,353 RGD:9068941
G LRRC56 leucine rich repeat containing 56 JBrowse link 11 571,886 588,750 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 16 79,618,156 79,624,460 RGD:9068941
G MCL1 MCL1 apoptosis regulator, BCL2 family member JBrowse link 1 129,566,827 129,572,086 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,354,981 3,368,970 RGD:9068941
G MET MET proto-oncogene, receptor tyrosine kinase JBrowse link 7 121,365,429 121,468,159 RGD:9068941
G MGA MAX dimerization protein MGA JBrowse link 15 38,800,567 38,948,847 RGD:9068941
G MST1R macrophage stimulating 1 receptor JBrowse link 3 51,054,795 51,072,307 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 1 217,352,707 217,461,313 RGD:9068941
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 5 8,017,373 8,049,322 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 1 134,141,969 134,146,791 RGD:9068941
G MYD88 MYD88 innate immune signal transduction adaptor JBrowse link 3 38,319,024 38,323,572 RGD:9068941
G NCOR2 nuclear receptor corepressor 2 JBrowse link 12 126,200,793 126,412,757 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 17 26,160,857 26,439,295 RGD:9068941
G NFKBIA NFKB inhibitor alpha JBrowse link 14 34,337,307 34,340,225 RGD:9068941
G NKX2-1 NK2 homeobox 1 JBrowse link 14 35,627,911 35,633,377 RGD:9068941
G NOTCH2 notch receptor 2 JBrowse link 1 117,537,162 117,612,840 RGD:9068941
G NQO1 NAD(P)H quinone dehydrogenase 1 JBrowse link 16 69,472,529 69,489,731 RGD:9068941
G NRAS NRAS proto-oncogene, GTPase JBrowse link 1 122,890,505 122,903,585 RGD:9068941
G NUAK1 NUAK family kinase 1 JBrowse link 12 107,037,632 107,113,163 RGD:9068941
G P2RY8 P2Y receptor family member 8 JBrowse link X 1,599,411 1,600,490 RGD:9068941
G PARP1 poly(ADP-ribose) polymerase 1 JBrowse link 1 206,812,981 206,860,356 RGD:9068941
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha JBrowse link 3 184,355,789 184,441,997 RGD:9068941
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 19 18,608,470 18,624,185 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 7 100,841,286 100,867,493 RGD:9068941
G PSORS1C2 psoriasis susceptibility 1 candidate 2 JBrowse link 6 31,748,923 31,750,739 RGD:9068941
G PTHLH parathyroid hormone like hormone JBrowse link 12 60,959,327 60,973,749 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:9068941
G RANBP2 RAN binding protein 2 JBrowse link 2A 110,010,961 110,039,769 RGD:9068941
G RECQL4 RecQ like helicase 4 JBrowse link 8 144,266,954 144,272,945 RGD:9068941
G RUNX1 RUNX family transcription factor 1 JBrowse link 21 34,526,631 34,788,930 RGD:9068941
G RXRA retinoid X receptor alpha JBrowse link 9 134,082,865 134,144,704 RGD:9068941
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 20 34,341,367 34,398,514 RGD:9068941
G SFTA3 surfactant associated 3 JBrowse link 14 35,403,557 35,627,438 RGD:9068941
G SGK1 serum/glucocorticoid regulated kinase 1 JBrowse link 6 136,033,851 136,180,121 RGD:9068941
G SH2B3 SH2B adaptor protein 3 JBrowse link 12 112,371,797 112,418,746 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G SPARC secreted protein acidic and cysteine rich JBrowse link 5 153,091,160 153,115,745 RGD:9068941
G SPP1 secreted phosphoprotein 1 JBrowse link 4 90,988,200 90,995,935 RGD:9068941
G TCF3 transcription factor 3 JBrowse link 19 1,582,297 1,622,025 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:9068941
G TET2 tet methylcytosine dioxygenase 2 JBrowse link 4 108,225,209 108,358,400 RGD:9068941
G TET3 tet methylcytosine dioxygenase 3 JBrowse link 2A 75,568,636 75,688,698 RGD:9068941
G TFRC transferrin receptor JBrowse link 3 203,333,953 203,365,586 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TNFRSF10A TNF receptor superfamily member 10a JBrowse link 8 19,378,547 19,414,724 RGD:9068941
G TNFRSF13B TNF receptor superfamily member 13B JBrowse link 17 39,252,858 39,286,007 RGD:9068941
G TNFRSF17 TNF receptor superfamily member 17 JBrowse link 16 12,333,254 12,336,219 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,687,132 7,706,120 RGD:9068941
G TRNT1 tRNA nucleotidyl transferase 1 JBrowse link 3 3,173,889 3,198,042 RGD:9068941
G TYMS thymidylate synthetase JBrowse link 18 17,295,182 17,310,311 RGD:9068941
G ULK4 unc-51 like kinase 4 JBrowse link 3 41,420,162 42,129,218 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
G XPO5 exportin 5 JBrowse link 6 44,405,234 44,458,235 RGD:9068941
G XRCC4 X-ray repair cross complementing 4 JBrowse link 5 32,246,959 32,521,724 RGD:9068941
G XRCC5 X-ray repair cross complementing 5 JBrowse link 2B 221,972,607 222,072,318 RGD:9068941
G YAP1 Yes1 associated transcriptional regulator JBrowse link 11 100,556,689 100,681,301 RGD:9068941
MYH-9 related disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 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 17 13,176,843 13,193,269 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:9068941
occipital horn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP7A ATPase copper transporting alpha JBrowse link X 77,205,579 77,342,762 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 17 49,149,277 49,166,833 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 1 166,512,870 166,672,114 RGD:7240710
RGD:9068941
plasma cell leukemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD40 CD40 molecule JBrowse link 20 43,541,619 43,552,994 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 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 7 106,536,450 106,543,317 RGD:9068941
G MOGAT3 monoacylglycerol O-acyltransferase 3 JBrowse link 7 106,577,727 106,582,799 RGD:9068941
G NAT16 N-acetyltransferase 16 (putative) JBrowse link 7 106,554,021 106,560,789 RGD:9068941
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 JBrowse link 7 106,587,858 106,599,605 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:7240710
RGD:9068941
G TRIM56 tripartite motif containing 56 JBrowse link 7 106,467,469 106,473,566 RGD:9068941
G VGF VGF nerve growth factor inducible JBrowse link 7 106,544,544 106,549,329 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 7 104,861,582 104,870,382 RGD:9068941
RGD:7240710
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 5 37,502,986 37,835,904 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 6 8,133,721 8,184,127 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 42,862,114 42,882,321 RGD:9068941
G DOCK7 dedicator of cytokinesis 7 JBrowse link 1 63,528,826 63,760,513 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 9 132,692,343 132,742,326 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 RGD:9068941
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 25,235,761 25,268,699 RGD:9068941
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 17,991,610 18,042,848 RGD:9068941
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,139,235 102,142,002 RGD:9068941
G LYST lysosomal trafficking regulator JBrowse link 1 216,231,824 216,436,293 RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 RGD:9068941
G RAB27B RAB27B, member RAS oncogene family JBrowse link 18 51,435,717 51,610,156 RGD:9068941
G RUNX1 RUNX family transcription factor 1 JBrowse link 21 34,526,631 34,788,930 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 4 141,841,526 141,919,678 RGD:9068941
platelet-type bleeding disorder 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD36 CD36 molecule JBrowse link 7 86,228,856 86,305,865 RGD:7240710
RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
platelet-type bleeding disorder 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP6 glycoprotein VI platelet JBrowse link 19 60,746,578 60,770,643 RGD:7240710
RGD:9068941
Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBXA2R thromboxane A2 receptor JBrowse link 19 3,572,454 3,581,924 RGD:9068941
RGD:7240710
platelet-type bleeding disorder 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBXAS1 thromboxane A synthase 1 JBrowse link 7 144,255,211 144,439,523 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 14 68,335,694 68,440,836 RGD:7240710
RGD:9068941
G FLI1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 11 127,409,301 127,527,521 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 17 13,176,843 13,193,269 RGD:7240710
RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 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 9 132,692,343 132,742,326 RGD:9068941
RGD:7240710
platelet-type bleeding disorder 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RASGRP2 RAS guanyl releasing protein 2 JBrowse link 11 63,423,112 63,443,240 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRKACG protein kinase cAMP-activated catalytic subunit gamma JBrowse link 9 67,777,789 67,779,395 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 17 21,530,009 21,539,589 RGD:9068941
RGD:7240710
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 11 127,409,301 127,527,521 RGD:9068941
RGD:7240710
Platelet-Type Bleeding Disorder 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPHB2 EPH receptor B2 JBrowse link 1 22,914,584 23,054,752 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 17 4,968,328 4,970,711 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 3 155,685,087 156,033,925 RGD:9068941
G P2RY12 purinergic receptor P2Y12 JBrowse link 3 155,934,333 155,981,818 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 5 62,554,387 62,659,641 RGD:7240710
RGD:9068941
G MOCS2 molybdenum cofactor synthesis 2 JBrowse link 5 62,539,208 62,550,926 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 2B 194,204,613 194,242,956 RGD:7240710
RGD:9068941
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:9068941
RGD:7240710
prothrombin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II, thrombin JBrowse link 11 47,227,891 47,249,157 RGD:9068941
G F7 coagulation factor VII JBrowse link 13 113,315,868 113,329,995 RGD:9068941
Prothrombin Deficiency, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II, thrombin JBrowse link 11 47,227,891 47,249,157 RGD:7240710
RGD:9068941
pseudoxanthoma elasticum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC2 ATP binding cassette subfamily C member 2 JBrowse link 10 99,889,021 99,947,452 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G CEP20 centrosomal protein 20 RGD:9068941
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
G GPX1 glutathione peroxidase 1 JBrowse link 3 50,360,736 50,362,274 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 16 54,817,228 54,844,279 RGD:9068941
G MYH11 myosin heavy chain 11 JBrowse link 16 16,006,840 16,091,058 RGD:9068941
G NDE1 nudE neurodevelopment protein 1 JBrowse link 16 15,948,881 16,004,208 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,216,072 17,480,036 RGD:7240710
RGD:9068941
G XYLT2 xylosyltransferase 2 JBrowse link 17 49,314,397 49,329,729 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 2A 87,152,108 87,164,567 RGD:7240710
RGD:9068941
purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL13 interleukin 13 JBrowse link 5 134,235,788 134,240,548 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 2B 128,083,794 128,094,625 RGD:9068941
Quebec platelet disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLAU plasminogen activator, urokinase JBrowse link 10 73,104,808 73,113,136 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 7 27,426,602 27,429,092 RGD:9068941
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA11 homeobox A11 JBrowse link 7 27,426,602 27,429,092 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 3 174,154,814 174,731,344 RGD:7240710
RGD:9068941
Shwartzman phenomenon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 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 11 47,910,552 47,918,014 RGD:7240710
RGD:9068941
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STIM1 stromal interaction molecule 1 JBrowse link 11 3,839,958 4,066,644 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 1 39,820,066 40,097,748 RGD:9068941
Takenouchi-Kosaki Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDC42 cell division cycle 42 JBrowse link 1 22,188,722 22,228,351 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 1 44,018,395 44,034,492 RGD:7240710
RGD:9068941
Thrombocythemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INSL6 insulin like 6 JBrowse link 9 5,192,023 5,213,827 RGD:9068941
G JAK2 Janus kinase 2 JBrowse link 9 5,006,271 5,156,626 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 2A 44,745,183 44,771,012 RGD:9068941
G ABCG8 ATP binding cassette subfamily G member 8 JBrowse link 2A 44,771,247 44,905,375 RGD:9068941
G ACBD5 acyl-CoA binding domain containing 5 JBrowse link 10 27,654,359 27,712,710 RGD:9068941
G ACTN1 actinin alpha 1 JBrowse link 14 68,335,694 68,440,836 RGD:9068941
G ALB albumin JBrowse link 4 56,605,322 56,622,418 RGD:9068941
G ANKRD26 ankyrin repeat domain 26 JBrowse link 10 27,476,968 27,572,433 RGD:9068941
G ASPG asparaginase JBrowse link 14 104,517,278 104,544,589 RGD:9068941
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 17 60,901,073 61,083,462 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G CHEK2 checkpoint kinase 2 JBrowse link 22 27,455,226 27,512,555 RGD:9068941
G COL4A4 collagen type IV alpha 4 chain JBrowse link 2B 233,061,067 233,222,541 RGD:9068941
G CSF2 colony stimulating factor 2 JBrowse link 5 133,660,775 133,663,146 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 17 17,491,272 17,493,729 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2A 44,706,777 44,760,757 RGD:9068941
G EPO erythropoietin JBrowse link 7 106,148,062 106,150,974 RGD:9068941
G ETV6 ETS variant transcription factor 6 JBrowse link 12 12,035,107 12,179,537 RGD:9068941
G F7 coagulation factor VII JBrowse link 13 113,315,868 113,329,995 RGD:9068941
G FCGR2A Fc fragment of IgG receptor IIa RGD:9068941
G FGA fibrinogen alpha chain JBrowse link 4 158,767,782 158,775,414 RGD:9068941
G FLI1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 11 127,409,301 127,527,521 RGD:9068941
G FYB1 FYN binding protein 1 JBrowse link 5 76,194,420 76,307,792 RGD:9068941
G GATA1 GATA binding protein 1 JBrowse link X 48,945,394 48,953,126 RGD:9068941
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 9 132,692,343 132,742,326 RGD:9068941
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 9 36,867,094 36,908,212 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 17 4,968,328 4,970,711 RGD:9068941
G GP9 glycoprotein IX platelet JBrowse link 3 133,479,202 133,480,843 RGD:9068941
G IFNA2 interferon alpha 2 JBrowse link 9 21,862,557 21,863,690 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL3 interleukin 3 JBrowse link 5 133,647,667 133,650,213 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G ITGA2 integrin subunit alpha 2 JBrowse link 5 62,554,387 62,659,641 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 17 13,176,843 13,193,269 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:9068941
G ITPA inosine triphosphatase JBrowse link 20 3,056,395 3,074,466 RGD:9068941
G LOC100986481 cytochrome c JBrowse link 7 25,396,013 25,398,549 RGD:9068941
G MASTL microtubule associated serine/threonine kinase like JBrowse link 10 27,626,892 27,658,180 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 1 44,018,395 44,034,492 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 RGD:9068941
G P2RY12 purinergic receptor P2Y12 JBrowse link 3 155,934,333 155,981,818 RGD:9068941
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 17 63,511,784 63,601,241 RGD:9068941
G PF4 platelet factor 4 JBrowse link 4 56,041,833 56,043,133 RGD:9068941
G RUNX1 RUNX family transcription factor 1 JBrowse link 21 34,526,631 34,788,930 RGD:9068941
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 17 13,302,796 13,317,312 RGD:9068941
G SPARC secreted protein acidic and cysteine rich JBrowse link 5 153,091,160 153,115,745 RGD:9068941
G TBXA2R thromboxane A2 receptor JBrowse link 19 3,572,454 3,581,924 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TNFRSF10A TNF receptor superfamily member 10a JBrowse link 8 19,378,547 19,414,724 RGD:9068941
G TUBB1 tubulin beta 1 class VI JBrowse link 20 56,730,882 56,738,741 RGD:9068941
G WAS WASP actin nucleation promoting factor JBrowse link X 48,842,765 48,850,380 RGD:9068941
G WDR1 WD repeat domain 1 JBrowse link 4 9,805,164 9,848,032 RGD:9068941
G XDH xanthine dehydrogenase JBrowse link 2A 31,425,183 31,504,455 RGD:9068941
G YME1L1 YME1 like 1 ATPase JBrowse link 10 27,584,093 27,626,901 RGD:9068941
Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA1 GATA binding protein 1 JBrowse link X 48,945,394 48,953,126 RGD:9068941
G WAS WASP actin nucleation promoting factor JBrowse link X 48,842,765 48,850,380 RGD:7240710
RGD:9068941
Thrombocytopenia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD26 ankyrin repeat domain 26 JBrowse link 10 27,476,968 27,572,433 RGD:7240710
RGD:9068941
G MASTL microtubule associated serine/threonine kinase like JBrowse link 10 27,626,892 27,658,180 RGD:9068941
Thrombocytopenia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FYB1 FYN binding protein 1 JBrowse link 5 76,194,420 76,307,792 RGD:9068941
RGD:7240710
Thrombocytopenia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100986481 cytochrome c JBrowse link 7 25,396,013 25,398,549 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 12 12,035,107 12,179,537 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 20 34,822,287 34,841,523 RGD:9068941
RGD:7240710
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPIG6B megakaryocyte and platelet inhibitory receptor G6b JBrowse link 6 32,273,438 32,276,772 RGD:9068941
RGD:7240710
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 X 48,945,394 48,953,126 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 1 113,871,395 113,874,584 RGD:9068941
G ANKRD35 ankyrin repeat domain 35 JBrowse link 1 113,778,454 113,791,264 RGD:9068941
G HJV hemojuvelin BMP co-receptor JBrowse link 1 113,926,383 113,930,761 RGD:9068941
G ITGA10 integrin subunit alpha 10 JBrowse link 1 113,803,019 113,821,908 RGD:9068941
G LIX1L limb and CNS expressed 1 like JBrowse link 1 113,848,119 113,869,992 RGD:9068941
G NUDT17 nudix hydrolase 17 JBrowse link 1 113,754,831 113,758,770 RGD:9068941
G PEX11B peroxisomal biogenesis factor 11 beta JBrowse link 1 113,823,170 113,830,830 RGD:9068941
G PIAS3 protein inhibitor of activated STAT 3 JBrowse link 1 113,758,338 113,769,496 RGD:9068941
G POLR3C RNA polymerase III subunit C JBrowse link 1 113,733,846 113,752,486 RGD:9068941
G POLR3GL RNA polymerase III subunit G like JBrowse link 1 113,876,604 113,889,091 RGD:9068941
G RBM8A RNA binding motif protein 8A JBrowse link 1 113,834,110 113,839,429 RGD:7240710
RGD:9068941
G TXNIP thioredoxin interacting protein JBrowse link 1 113,902,839 113,906,239 RGD:9068941
Thrombocytopenic Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP9 glycoprotein IX platelet JBrowse link 3 133,479,202 133,480,843 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 17 13,176,843 13,193,269 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 RGD:9068941
thrombocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CALR calreticulin JBrowse link 19 13,242,900 13,249,416 RGD:9068941
G CPB2 carboxypeptidase B2 RGD:9068941
G EPOR erythropoietin receptor JBrowse link 19 11,635,248 11,642,383 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G JAK2 Janus kinase 2 JBrowse link 9 5,006,271 5,156,626 RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 1 44,018,395 44,034,492 RGD:9068941
G THPO thrombopoietin JBrowse link 3 189,891,025 189,897,429 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 1 44,018,395 44,034,492 RGD:9068941
Thrombotic Microangiopathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G CFH complement factor H JBrowse link 1 176,434,107 176,507,049 RGD:9068941
G CFI complement factor I JBrowse link 4 112,804,645 112,865,581 RGD:9068941
G CPB2 carboxypeptidase B2 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link 1 95,918,359 95,931,050 RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 4 158,788,761 158,797,460 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 17 29,477,285 29,519,412 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 154,730,009 154,755,233 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 RGD:9068941
thrombotic thrombocytopenic purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD36 CD36 molecule JBrowse link 7 86,228,856 86,305,865 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link 1 95,918,359 95,931,050 RGD:9068941
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain JBrowse link 6 33,353,599 33,360,284 RGD:9068941
G PROC protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 2B 128,083,794 128,094,625 RGD:9068941
G TFPI tissue factor pathway inhibitor JBrowse link 2B 192,541,881 192,631,867 RGD:9068941
G THBD thrombomodulin JBrowse link 20 23,343,758 23,347,966 RGD:9068941
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 RGD:9068941
type I Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase JBrowse link 9 132,989,574 132,997,271 RGD:9068941
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,269,369 133,309,602 RGD:9068941
G AK8 adenylate kinase 8 JBrowse link 9 132,473,492 132,625,313 RGD:9068941
G BARHL1 BarH like homeobox 1 JBrowse link 9 132,331,662 132,343,116 RGD:9068941
G BRD3 bromodomain containing 3 JBrowse link 9 133,759,096 133,782,419 RGD:9068941
G C9H9orf116 chromosome 9 C9orf116 homolog JBrowse link 9 135,628,471 135,633,837 RGD:9068941
G C9H9orf62 chromosome 9 C9orf62 homolog JBrowse link 9 135,476,909 135,477,915 RGD:9068941
G CACFD1 calcium channel flower domain containing 1 JBrowse link 9 133,194,490 133,205,686 RGD:9068941
G CEL carboxyl ester lipase JBrowse link 9 132,809,606 132,821,010 RGD:9068941
G CFAP77 cilia and flagella associated protein 77 JBrowse link 9 132,162,008 132,322,666 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
RGD:7240710
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 RGD:9068941
G DBH dopamine beta-hydroxylase JBrowse link 9 133,371,818 133,394,581 RGD:9068941
G DDX31 DEAD-box helicase 31 JBrowse link 9 132,297,226 132,418,713 RGD:9068941
G FAM163B family with sequence similarity 163 member B JBrowse link 9 133,311,168 133,343,841 RGD:9068941
G FCN1 ficolin 1 JBrowse link 9 135,040,722 135,049,105 RGD:9068941
G FCN2 ficolin 2 JBrowse link 9 134,997,270 135,021,789 RGD:9068941
G FLNA filamin A RGD:9068941
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) JBrowse link 9 132,888,427 132,899,352 RGD:9068941
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 9 132,692,343 132,742,326 RGD:9068941
G GLT6D1 glycosyltransferase 6 domain containing 1 JBrowse link 9 135,705,743 135,708,265 RGD:9068941
G GTF3C4 general transcription factor IIIC subunit 4 JBrowse link 9 132,418,347 132,443,106 RGD:9068941
G GTF3C5 general transcription factor IIIC subunit 5 JBrowse link 9 132,779,664 132,807,518 RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 JBrowse link 9 135,813,431 135,853,461 RGD:9068941
G LCN1 lipocalin 1 JBrowse link 9 135,654,722 135,659,870 RGD:9068941
G LCN9 lipocalin 9 JBrowse link 9 135,725,345 135,732,398 RGD:9068941
G LOC100983451 surfeit locus protein 1 JBrowse link 9 133,085,739 133,088,911 RGD:9068941
G LUM lumican JBrowse link 12 91,952,277 91,960,388 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 70,443,467 70,467,178 RGD:9068941
G MED22 mediator complex subunit 22 JBrowse link 9 133,074,826 133,082,071 RGD:9068941
G MED27 mediator complex subunit 27 JBrowse link 9 131,619,441 131,835,951 RGD:9068941
G MRPS2 mitochondrial ribosomal protein S2 JBrowse link 9 135,633,900 135,637,926 RGD:9068941
G MYH11 myosin heavy chain 11 JBrowse link 16 16,006,840 16,091,058 RGD:9068941
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,248,761 133,259,631 RGD:9068941
G NTNG2 netrin G2 JBrowse link 9 131,917,736 131,999,801 RGD:9068941
G OBP2B odorant binding protein 2B JBrowse link 9 132,939,328 132,943,153 RGD:9068941
G OLFM1 olfactomedin 1 JBrowse link 9 135,205,710 135,252,598 RGD:9068941
G PAEP progestagen associated endometrial protein JBrowse link 9 135,667,342 135,672,464 RGD:9068941
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,265,750 131,285,881 RGD:9068941
G PPP1R26 protein phosphatase 1 regulatory subunit 26 JBrowse link 9 135,613,494 135,622,218 RGD:9068941
G RALGDS ral guanine nucleotide dissociation stimulator JBrowse link 9 132,832,924 132,847,200 RGD:9068941
G RAPGEF1 Rap guanine nucleotide exchange factor 1 JBrowse link 9 131,337,001 131,468,336 RGD:9068941
G REXO4 REX4 homolog, 3'-5' exonuclease JBrowse link 9 133,140,392 133,152,413 RGD:9068941
G RPL7A ribosomal protein L7a JBrowse link 9 133,082,079 133,085,340 RGD:9068941
G RXRA retinoid X receptor alpha JBrowse link 9 134,082,865 134,144,704 RGD:9068941
G SARDH sarcosine dehydrogenase JBrowse link 9 133,398,806 133,473,642 RGD:9068941
G SETX senataxin JBrowse link 9 132,016,513 132,109,665 RGD:9068941
G SLC2A10 solute carrier family 2 member 10 JBrowse link 20 44,128,837 44,153,154 RGD:9068941
G SLC2A6 solute carrier family 2 member 6 JBrowse link 9 133,205,995 133,214,051 RGD:9068941
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 JBrowse link 9 135,755,100 135,768,736 RGD:9068941
G SPACA9 sperm acrosome associated 9 JBrowse link 9 132,624,823 132,636,687 RGD:9068941
G STKLD1 serine/threonine kinase like domain containing 1 JBrowse link 9 133,111,802 133,140,430 RGD:9068941
G SURF2 surfeit 2 JBrowse link 9 133,091,321 133,096,052 RGD:9068941
G SURF4 surfeit 4 JBrowse link 9 133,096,353 133,103,007 RGD:9068941
G SURF6 surfeit 6 JBrowse link 9 133,064,755 133,070,302 RGD:9068941
G TGFBR1 transforming growth factor beta receptor 1 JBrowse link 9 98,337,417 98,362,748 RGD:9068941
G TSC1 TSC complex subunit 1 JBrowse link 9 132,638,003 132,692,264 RGD:9068941
G TTF1 transcription termination factor 1 JBrowse link 9 132,129,318 132,158,660 RGD:9068941
G UCK1 uridine-cytidine kinase 1 JBrowse link 9 131,285,877 131,293,338 RGD:9068941
G VAV2 vav guanine nucleotide exchange factor 2 JBrowse link 9 133,492,314 133,690,708 RGD:9068941
G WDR5 WD repeat domain 5 JBrowse link 9 133,848,185 133,872,889 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 17 49,149,277 49,166,833 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 RGD:9068941
RGD:7240710
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 2B 194,204,613 194,242,956 RGD:9068941
G LOC100992963 tenascin-X JBrowse link 6 32,572,833 32,637,194 RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 136,544,639 136,595,511 RGD:9068941
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 135,413,871 135,416,432 RGD:9068941
G GGCX gamma-glutamyl carboxylase JBrowse link 2A 87,152,108 87,164,567 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 1 95,918,359 95,931,050 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 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 5 62,554,387 62,659,641 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 17 13,176,843 13,193,269 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 8 38,864,918 38,897,776 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 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 X 154,156,864 154,345,635 RGD:9068941
G ITGA2 integrin subunit alpha 2 JBrowse link 5 62,554,387 62,659,641 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 17 13,176,843 13,193,269 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 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 12 5,990,612 6,166,632 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 2B 140,185,803 140,189,626 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G IRF4 interferon regulatory factor 4 JBrowse link 6 341,637 360,492 RGD:9068941
G MYD88 MYD88 innate immune signal transduction adaptor JBrowse link 3 38,319,024 38,323,572 RGD:9068941
RGD:7240710
Wiskott-Aldrich syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXP3 forkhead box P3 JBrowse link X 49,402,652 49,417,029 RGD:9068941
G WAS WASP actin nucleation promoting factor JBrowse link X 48,842,765 48,850,380 RGD:7240710
RGD:9068941
G WIPF1 WAS/WASL interacting protein family member 1 JBrowse link 2B 179,290,685 179,316,694 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 2B 179,290,685 179,316,694 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 X 48,945,394 48,953,126 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 X 48,842,765 48,850,380 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 X 48,945,394 48,953,126 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11950
    disease of anatomical entity 11608
      hematopoietic system disease 1329
        hemorrhagic disease 457
          Bernard-Soulier syndrome + 3
          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 + 176
          congenital afibrinogenemia + 5
          disseminated intravascular coagulation + 15
          essential thrombocythemia 23
          factor V deficiency + 5
          factor VII deficiency 2
          factor VIII deficiency + 19
          factor X deficiency 3
          factor XI deficiency 1
          factor XII deficiency 2
          factor XIII deficiency + 3
          hemophilia B 6
          platelet storage pool deficiency + 26
          prothrombin deficiency + 2
          purpura + 45
          vascular hemostatic disease + 261
          vitamin K deficiency bleeding 2
          von Willebrand's disease + 7
Path 2
Term Annotations click to browse term
  disease 11950
    disease of anatomical entity 11608
      Hemic and Lymphatic Diseases 1584
        hematopoietic system disease 1329
          blood coagulation disease 469
            hemorrhagic disease 457
              Bernard-Soulier syndrome + 3
              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 + 176
              congenital afibrinogenemia + 5
              disseminated intravascular coagulation + 15
              essential thrombocythemia 23
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 19
              factor X deficiency 3
              factor XI deficiency 1
              factor XII deficiency 2
              factor XIII deficiency + 3
              hemophilia B 6
              platelet storage pool deficiency + 26
              prothrombin deficiency + 2
              purpura + 45
              vascular hemostatic disease + 261
              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.