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
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 F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:11554173
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:11040512
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8554872
G Tbxa2r thromboxane A2 receptor JBrowse link 7 11,253,153 11,259,233 RGD:11554173
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:8554872
Acute Traumatic Coagulopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11554179
RGD:11554180
alpha-2-plasmin inhibitor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf2 serpin family F member 2 JBrowse link 10 62,264,247 62,272,353 RGD:7240710
RGD:8554872
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 3 5,519,921 5,558,390 RGD:10449096
G Baat bile acid CoA:amino acid N-acyltransferase JBrowse link 5 64,768,397 64,777,368 RGD:8554872
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:8554872
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7364995
RGD:8554872
RGD:11040768
RGD:7240710
G C3ar1 complement C3a receptor 1 JBrowse link 4 155,681,767 155,691,240 RGD:8554872
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:8554872
RGD:11554173
RGD:11352810
RGD:11040768
RGD:11352768
RGD:11038684
RGD:7240710
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7242707
RGD:8554872
RGD:11554173
RGD:11040768
RGD:7240710
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:1599886
RGD:8554872
RGD:11554173
RGD:11041172
RGD:11041162
RGD:11040768
RGD:7240710
RGD:7364995
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:7240710
RGD:8554872
RGD:11041162
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:6906889
RGD:8554872
RGD:7240710
G Dgke diacylglycerol kinase epsilon JBrowse link 10 76,375,981 76,408,224 RGD:8554872
RGD:11554173
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:7240710
RGD:8554872
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:8554872
RGD:11554173
RGD:11038691
RGD:11038684
RGD:7240710
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 3 5,519,921 5,558,390 RGD:11554173
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11036083
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:11344977
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11344977
RGD:11352267
RGD:11352237
RGD:11344980
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354966
RGD:11520785
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:9588662
G Dnmt3b DNA methyltransferase 3 beta JBrowse link 3 149,131,541 149,170,061 RGD:9588662
RGD:9589094
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:11049162
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040883
RGD:11040990
RGD:11040989
RGD:11040933
G Fcgr2b Fc fragment of IgG receptor IIb JBrowse link 13 89,329,298 89,343,916 RGD:11040933
RGD:11344955
RGD:11344931
RGD:11344928
RGD:11344927
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11040776
RGD:11352255
RGD:11040989
RGD:11344926
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:10450841
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11041894
RGD:11046267
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:11073600
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11051966
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:11528541
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:11528541
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:11041894
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:10755473
RGD:10755475
G Mir130a microRNA 130a JBrowse link 3 72,141,037 72,141,124 RGD:11073600
G Mir3581 microRNA 3581 JBrowse link 6 133,893,418 133,893,497 RGD:10755694
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11541072
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484673
RGD:11535019
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041758
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:11041758
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073598
RGD:11073603
RGD:11073600
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb1 tubulin, beta 1 class VI JBrowse link 3 172,550,252 172,558,089 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:7240710
RGD:8554872
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 9 52,023,295 52,059,221 RGD:7240710
Bernard-Soulier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:1580444
RGD:8554872
RGD:10450843
RGD:10450834
RGD:10450833
RGD:10450819
RGD:10450809
RGD:10450798
RGD:10450796
RGD:7240710
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:7240710
RGD:13464128
RGD:11040530
RGD:11040529
RGD:11040528
G Gp9 glycoprotein IX (platelet) JBrowse link 4 119,680,671 119,682,006 RGD:7240710
RGD:8554872
RGD:13464128
RGD:11040531
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:1580643
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:7240710
RGD:8554872
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:10450832
RGD:10450842
Bernard-Soulier Syndrome, Type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:8554872
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:8554872
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp9 glycoprotein IX (platelet) JBrowse link 4 119,680,671 119,682,006 RGD:1599275
RGD:8554872
blood platelet disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:1600629
G Fermt3 fermitin family member 3 JBrowse link 1 222,254,183 222,272,775 RGD:11554173
G Pla2g4a phospholipase A2 group IVA JBrowse link 13 67,062,252 67,206,688 RGD:11554173
G Tbxa2r thromboxane A2 receptor JBrowse link 7 11,253,153 11,259,233 RGD:1578439
RGD:11554173
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
RGD:8554872
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
cavernous hemangioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:8554872
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
cerebral cavernous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:11554173
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:1358458
RGD:7240710
RGD:8554872
RGD:1598379
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552573
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859036
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:8554872
cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
RGD:7240710
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
congenital afibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb11 ATP binding cassette subfamily B member 11 JBrowse link 3 55,480,024 55,587,946 RGD:11554173
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:8554872
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:5688762
RGD:8554872
RGD:11554173
RGD:11040559
RGD:7240710
G Fgb fibrinogen beta chain JBrowse link 2 182,028,044 182,035,026 RGD:737709
RGD:8554872
RGD:7240710
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:737710
RGD:8554872
RGD:11352676
RGD:7240710
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B JBrowse link 8 123,303,910 123,370,729 RGD:7240710
RGD:8554872
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:8554872
G Fgb fibrinogen beta chain JBrowse link 2 182,028,044 182,035,026 RGD:8554872
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:8554872
RGD:11352694
RGD:11352682
RGD:11352681
RGD:11352680
RGD:11352678
RGD:11352675
RGD:11352674
cryoglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354974
G Ifnl3 interferon, lambda 3 JBrowse link 1 85,236,243 85,237,775 RGD:11528546
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:11060121
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450529
G Tslp thymic stromal lymphopoietin JBrowse link 18 25,613,601 25,618,066 RGD:13592920
Cryoglobulinemia, Familial Mixed term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11344956
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 3 5,519,921 5,558,390 RGD:10449048
G Elane elastase, neutrophil expressed JBrowse link 7 12,638,320 12,640,168 RGD:10450544
RGD:10450545
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:1581020
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:6893489
RGD:11554173
RGD:10449432
RGD:10449429
RGD:10449422
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11060253
RGD:11554173
RGD:11060265
RGD:11341675
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:11554173
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:10755508
RGD:10755509
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049462
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:10450536
RGD:11062099
RGD:11060278
RGD:11049462
G Oxt oxytocin/neurophysin I prepropeptide JBrowse link 3 123,106,694 123,107,534 RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11541052
RGD:11541087
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11099993
RGD:11554173
RGD:11100014
G Serpinc1 serpin family C member 1 JBrowse link 13 78,806,107 78,820,375 RGD:11035251
RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:11080963
RGD:10449432
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060128
RGD:11341674
RGD:11062067
RGD:11060265
RGD:11060253
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:5685034
RGD:11554173
RGD:11038686
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450536
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 1 263,554,426 263,612,556 RGD:11080978
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:11098817
RGD:11251740
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:5688741
RGD:10450835
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450835
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11051963
RGD:11051964
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:10450883
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:11541093
RGD:11541120
Dyserythropoietic Anemia with Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:10450740
RGD:8554872
RGD:10450749
RGD:10450743
Dysfibrinogenemia, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:7240710
RGD:8554872
G Fgb fibrinogen beta chain JBrowse link 2 182,028,044 182,035,026 RGD:10450765
RGD:7240710
RGD:10450766
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:11352672
RGD:7240710
RGD:11352691
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:1599433
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11571617
RGD:13592920
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:1581198
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:1300381
RGD:8554872
RGD:11554173
RGD:11041602
RGD:11041599
RGD:7257554
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:1581210
RGD:8554872
RGD:1581211
RGD:1581212
RGD:734808
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:734809
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:13592920
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:13592920
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:11553861
RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073604
G Tnxb tenascin XB RGD:1599494
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnxb tenascin XB RGD:7240710
RGD:8554872
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:11554173
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:7240710
RGD:8554872
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 9 52,023,295 52,059,221 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:8554872
G Wdr75 WD repeat domain 75 JBrowse link 9 52,687,845 52,717,808 RGD:8554872
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:7240710
RGD:8554872
RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
RGD:7240710
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
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 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
RGD:11554173
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp1 AE binding protein 1 JBrowse link 14 86,101,253 86,111,323 RGD:8554872
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 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
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 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:734803
RGD:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
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 10 36,098,051 36,304,416 RGD:7240710
RGD:8554872
RGD:1598738
essential thrombocythemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg2b autophagy related 2B JBrowse link 6 129,449,451 129,519,599 RGD:8554872
G Bdkrb1 bradykinin receptor B1 JBrowse link 6 129,437,423 129,441,553 RGD:8554872
G Bdkrb2 bradykinin receptor B2 JBrowse link 6 129,399,468 129,429,676 RGD:8554872
G Calr calreticulin JBrowse link 19 25,956,771 25,961,666 RGD:7240710
RGD:11352751
RGD:11352747
RGD:8554872
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:11041099
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11344979
G Elane elastase, neutrophil expressed JBrowse link 7 12,638,320 12,640,168 RGD:10450556
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Gskip GSK3B interacting protein JBrowse link 6 129,512,950 129,536,320 RGD:8554872
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:10449178
RGD:11554173
G LOC100909954 uncharacterized LOC100909954 JBrowse link 6 129,259,581 129,322,113 RGD:8554872
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:10449014
RGD:8554872
RGD:13592920
RGD:10449016
G Myb MYB proto-oncogene, transcription factor JBrowse link 1 16,658,178 16,690,135 RGD:13592920
G Pdgfa platelet derived growth factor subunit A JBrowse link 12 17,734,141 17,756,186 RGD:11554173
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:11554173
G Sh2b3 SH2B adaptor protein 3 JBrowse link 12 40,261,990 40,265,757 RGD:7240710
RGD:8554872
G Tcl1a T-cell leukemia/lymphoma 1A JBrowse link 6 128,888,768 128,894,761 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Thpo thrombopoietin JBrowse link 11 82,845,676 82,853,439 RGD:7240710
RGD:8554872
RGD:1580083
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:11354980
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11073823
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 9
9
50,664,048
50,578,868
50,744,803
50,628,943
RGD:8554872
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 JBrowse link 6 10,887,303 10,899,221 RGD:7240710
RGD:11062141
RGD:8554872
factor V deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:7240710
RGD:8554872
RGD:11564334
G Lman1 lectin, mannose-binding, 1 JBrowse link 18 61,683,377 61,707,344 RGD:1600100
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060145
factor VII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:8554872
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:1601133
RGD:8554872
RGD:11554173
RGD:11049524
RGD:7240710
factor VIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11041156
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:11041156
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352263
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041156
G Cfp complement factor properdin JBrowse link X 1,311,121 1,316,683 RGD:11041156
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565076
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:1582357
RGD:8554872
RGD:7245964
RGD:11554173
RGD:11530071
RGD:10450758
RGD:10450757
RGD:7240710
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb RGD:7245964
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:11554173
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040767
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755564
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11055683
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049183
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449409
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11552591
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041784
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060141
RGD:11060256
RGD:11060147
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11055683
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11073776
Factor VIII Deficiency, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:11554173
factor X deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:1601104
RGD:8554872
RGD:11041731
RGD:7240710
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:8554872
factor XI deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F11 coagulation factor XI JBrowse link 16 50,179,458 50,201,644 RGD:1598923
RGD:8554872
RGD:11041742
RGD:11041741
RGD:7240710
factor XII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:1601107
RGD:8554872
RGD:11041805
RGD:11041772
RGD:11041769
RGD:7240710
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
factor XIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:10450726
RGD:11554173
RGD:11041869
RGD:10450730
RGD:10450729
RGD:10450727
G F13b coagulation factor XIII B chain JBrowse link 13 56,598,891 56,623,132 RGD:11554173
G Lman1 lectin, mannose-binding, 1 JBrowse link 18 61,683,377 61,707,344 RGD:1600100
Factor Xiii, A Subunit, Deficiency Of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:7240710
RGD:8554872
RGD:11041856
RGD:11041811
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 13 56,598,891 56,623,132 RGD:7240710
RGD:8554872
RGD:10450738
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11039024
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 61,683,377 61,707,344 RGD:7240710
RGD:8554872
G Mcfd2 multiple coagulation factor deficiency 2 JBrowse link 6 10,887,303 10,899,221 RGD:8554872
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx1 runt-related transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:7240710
RGD:8554872
Giant Platelet Syndrome with Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:8554872
Glanzmann's thrombasthenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:1582297
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:7240710
RGD:8554872
RGD:10755480
RGD:10755476
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:1580496
RGD:8554872
RGD:11554173
RGD:10755474
RGD:7240710
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tbx5 T-box 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
gray platelet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc12 coiled-coil domain containing 12 JBrowse link 8 118,925,682 118,977,038 RGD:8554872
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:11040508
G Nbeal2 neurobeachin-like 2 JBrowse link 8 118,893,987 118,924,390 RGD:7240710
RGD:8554872
RGD:11554173
hemolytic-uremic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11554173
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:13592920
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11528527
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:7241820
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:6893534
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:11352767
RGD:13592920
RGD:11531138
RGD:11352770
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:13592920
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:11041164
RGD:13592920
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:13592920
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:13592920
G Dgke diacylglycerol kinase epsilon JBrowse link 10 76,375,981 76,408,224 RGD:8554872
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:7242276
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:1626361
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6909134
RGD:6909171
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11530050
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:11554173
G Pla2g7 phospholipase A2 group VII JBrowse link 9 19,935,754 19,978,013 RGD:7257516
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11541069
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD:13592920
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:11038690
RGD:13592920
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
hemophilia B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565076
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:9685705
RGD:8554872
RGD:11554173
RGD:10450764
RGD:10450762
RGD:10450761
RGD:10450760
RGD:10450759
RGD:7240710
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 8 28,147,110 28,208,466 RGD:7240710
RGD:8554872
Henoch-Schoenlein purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11038920
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11039045
RGD:11039055
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11522500
RGD:11528567
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354986
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755701
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10755701
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6909151
G Il5 interleukin 5 JBrowse link 10 39,066,716 39,069,587 RGD:11354946
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:11059888
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:7349346
RGD:11531116
RGD:7349347
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11541055
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552576
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147830
Heparin-induced Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040889
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11040991
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049164
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:1300352
RGD:8554872
RGD:11554173
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:1601038
RGD:8554872
RGD:11035216
RGD:11554173
RGD:11041566
RGD:11041563
RGD:11041183
RGD:11041169
RGD:1300352
G Gdf2 growth differentiation factor 2 JBrowse link 16 10,267,510 10,293,545 RGD:11554173
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11035218
RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450733
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 7 142,769,942 142,787,336 RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
RGD:7240710
RGD:11041166
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11041166
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 7 142,769,942 142,787,336 RGD:7240710
RGD:8554872
RGD:11035216
RGD:11035214
RGD:11035213
RGD:10769364
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf2 growth differentiation factor 2 JBrowse link 16 10,267,510 10,293,545 RGD:7240710
RGD:8554872
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 2 24,022,815 24,227,522 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:11554173
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 1 80,414,766 80,417,385 RGD:8554872
RGD:11554173
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 14 79,013,808 79,015,108 RGD:13592920
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 17 26,808,193 26,833,257 RGD:13592920
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 3 114,869,478 114,880,218 RGD:8554872
RGD:11554173
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:4891476
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352293
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:11251756
RGD:11554173
RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:1599538
RGD:8554872
RGD:11554173
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:1599546
RGD:11554173
RGD:8554872
RGD:11354897
RGD:11353873
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 1 102,810,114 102,849,430 RGD:11072072
RGD:11554173
RGD:8554872
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:632833
RGD:11554173
RGD:8554872
RGD:11073544
G Kxd1 KxDL motif containing 1 JBrowse link 16 20,652,863 20,666,581 RGD:13592920
G Rab38 RAB38, member RAS oncogene family JBrowse link 1 152,072,716 152,153,449 RGD:2324690
G Rab38ru Rab38, member of RAS oncogene family, ruby allele RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha JBrowse link 15 34,393,419 34,400,466 RGD:13592920
G Slc7a11 solute carrier family 7 member 11 JBrowse link 2 139,453,774 139,528,479 RGD:13592920
G Trappc6a trafficking protein particle complex 6A JBrowse link 1 80,417,514 80,424,429 RGD:8554872
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 38,459,816 38,482,903 RGD:13592920
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 7 11,838,639 11,873,992 RGD:13592920
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:1625056
RGD:8554872
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:13592920
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 7 11,838,639 11,873,992 RGD:8554872
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 2 24,022,815 24,227,522 RGD:7240710
RGD:8554872
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:7240710
RGD:8554872
RGD:11041885
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 12 50,285,239 50,315,893 RGD:7240710
RGD:8554872
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 1 102,810,114 102,849,430 RGD:7240710
RGD:8554872
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 1 265,761,818 265,764,427 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:7240710
RGD:8554872
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 1 80,414,766 80,417,385 RGD:7240710
RGD:8554872
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 3 114,869,478 114,880,218 RGD:7240710
RGD:8554872
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:11062720
RGD:11070199
Kaposiform Hemangioendothelioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8655667
G Gna14 G protein subunit alpha 14 JBrowse link 1 235,165,775 235,347,986 RGD:8554872
multiple myeloma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 JBrowse link 4 88,765,441 88,890,268 RGD:11081075
RGD:11081144
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11038914
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11035276
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11040544
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:8554872
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11554173
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:11353847
RGD:11554173
G Bcl2l10 BCL2 like 10 JBrowse link 8 82,288,705 82,294,750 RGD:14392808
G Bnip3 BCL2 interacting protein 3 JBrowse link 1 211,248,098 211,265,282 RGD:11554173
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Btg1 BTG anti-proliferation factor 1 JBrowse link 7 37,812,831 37,815,088 RGD:11554173
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11038794
G Cbx7 chromobox 7 JBrowse link 7 121,136,067 121,153,503 RGD:11352716
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11554173
G Ccnd1 cyclin D1 JBrowse link 1 218,090,750 218,100,447 RGD:1581171
RGD:8554872
RGD:11554173
RGD:11353784
RGD:7240710
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:1581171
G Ccnd3 cyclin D3 JBrowse link 9 15,404,816 15,410,905 RGD:1581171
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:11522720
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352240
RGD:11352268
RGD:11352251
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:11352814
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354971
RGD:11554173
G Cdk4 cyclin-dependent kinase 4 JBrowse link 7 70,345,971 70,352,689 RGD:8554872
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:11252185
RGD:11554173
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:11040544
G Chi3l1 chitinase 3 like 1 JBrowse link 13 51,022,844 51,030,797 RGD:4892645
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:11554173
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:11352247
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11352726
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 JBrowse link 1 147,713,879 147,814,410 RGD:11352748
RGD:11352804
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 JBrowse link 7 123,599,264 123,608,436 RGD:11352804
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11041181
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:11252116
RGD:11554173
RGD:11252122
RGD:11252121
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:10450871
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:11252199
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:11049149
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040778
RGD:11040938
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11554173
RGD:8554872
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:11040544
G Flt3lg fms-related tyrosine kinase 3 ligand JBrowse link 1 101,126,006 101,131,413 RGD:11075232
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352777
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450826
RGD:10450846
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:10755413
RGD:11075094
RGD:10755419
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450846
RGD:11554173
RGD:10450847
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:8694350
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:11353882
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:11554173
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:11354981
RGD:11520780
G Idh1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic JBrowse link 9 71,882,108 71,911,645 RGD:8554872
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:8554872
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11041888
RGD:11049458
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11049156
RGD:11059513
RGD:11051973
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11051973
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:11051973
RGD:11522764
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11040938
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Irf4 interferon regulatory factor 4 JBrowse link 17 34,886,746 34,905,191 RGD:11526161
RGD:11554173
RGD:11530055
RGD:11530019
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1581756
RGD:8554872
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:1600305
RGD:8554872
RGD:7240710
G LOC100364500 RT1 class I, locus CE11-like JBrowse link 20 2,704,153 2,707,111 RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:13592920
G Mcl1 MCL1 apoptosis regulator, BCL2 family member JBrowse link 2 197,786,212 197,788,992 RGD:11554173
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:11531123
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:2317526
G Mir19a microRNA 19a JBrowse link 15 100,180,162 100,180,243 RGD:11554173
G Mir92a1 microRNA 92a-1 JBrowse link 15 100,180,586 100,180,663 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449397
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11075095
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11075095
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:11554173
G Myd88 MYD88, innate immune signal transduction adaptor JBrowse link 8 128,022,512 128,027,462 RGD:8554872
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:2298898
RGD:2298895
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:1580763
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:10769348
RGD:11554173
RGD:10755419
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:11535049
RGD:8554872
G Nuak1 NUAK family kinase 1 JBrowse link 7 25,039,336 25,111,118 RGD:11554173
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552578
RGD:10450846
RGD:11040544
G Prame preferentially expressed antigen in melanoma JBrowse link X 106,082,984 106,091,256 RGD:11535030
RGD:11554173
G Psors1c2 psoriasis susceptibility 1 candidate 2 JBrowse link 20 3,727,817 3,728,805 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:9835349
G Runx1 runt-related transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:6482834
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:1581238
RGD:11554173
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:11554173
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:1581367
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038665
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062101
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073605
RGD:11073614
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449450
RGD:10449453
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b JBrowse link 15 51,433,853 51,464,215 RGD:11038719
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:11554173
G Tnfrsf17 TNF receptor superfamily member 17 JBrowse link 10 4,252,097 4,258,335 RGD:2317306
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11073716
RGD:8554872
RGD:11075073
RGD:11073728
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11075094
RGD:11075095
G Ulk4 unc-51 like kinase 4 JBrowse link 8 129,631,003 129,919,080 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11079182
G Xpo5 exportin 5 JBrowse link 9 17,125,201 17,163,170 RGD:11041735
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8698655
G Xrcc5 X-ray repair cross complementing 5 JBrowse link 9 79,659,275 79,748,050 RGD:8698655
MYH-9 related disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902926
RGD:8554872
RGD:11554173
RGD:11533924
RGD:7240710
RGD:11532766
RGD:6903235
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:8554872
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:11554173
RGD:8554872
Occipital Horn Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:7240710
RGD:8554872
RGD:11340205
RGD:11252184
Oculootoradial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:7240710
RGD:8554872
OI/EDS Combined Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
plasmacytic leukemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:5490532
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038665
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 12 22,665,128 22,676,079 RGD:8554872
G Mogat3 monoacylglycerol O-acyltransferase 3 JBrowse link 12 22,708,622 22,710,787 RGD:8554872
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 JBrowse link 12 22,716,421 22,726,982 RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:7240710
RGD:8554872
G Vgf VGF nerve growth factor inducible JBrowse link 12 22,677,302 22,680,630 RGD:8554872
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 12 11,252,300 11,265,849 RGD:8554872
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 2 24,022,815 24,227,522 RGD:13592920
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 17 26,808,193 26,833,257 RGD:13592920
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 3 114,869,478 114,880,218 RGD:13592920
G Dock7 dedicator of cytokinesis 7 JBrowse link 5 117,595,194 117,780,844 RGD:13592920
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:13592920
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:13592920
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:13592920
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:13592920
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 1 102,810,114 102,849,430 RGD:13592920
G Lyst lysosomal trafficking regulator JBrowse link 17 90,323,055 90,522,091 RGD:13592920
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:13592920
G Rab27b RAB27B, member RAS oncogene family JBrowse link 18 68,486,006 68,644,595 RGD:13592920
G Slc7a11 solute carrier family 7 member 11 JBrowse link 2 139,453,774 139,528,479 RGD:13592920
platelet-type bleeding disorder 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:7240710
RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208509
platelet-type bleeding disorder 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp6 glycoprotein VI JBrowse link 1 72,994,977 73,064,639 RGD:7240710
RGD:8554872
Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxa2r thromboxane A2 receptor JBrowse link 7 11,253,153 11,259,233 RGD:11059528
RGD:8554872
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 4 66,624,181 66,846,745 RGD:7240710
platelet-type bleeding disorder 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn1 actinin, alpha 1 JBrowse link 6 103,376,557 103,470,497 RGD:7240710
RGD:8554872
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:8554872
platelet-type bleeding disorder 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:7240710
RGD:8554872
RGD:10766467
RGD:10755470
RGD:10755469
RGD:10755462
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8554872
RGD:10755470
RGD:10755466
RGD:10755462
RGD:7240710
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 3 7,190,721 7,203,444 RGD:8554872
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 1 221,771,238 221,788,765 RGD:8554872
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 8 33,541,932 33,661,111 RGD:8554872
RGD:7240710
platelet-type bleeding disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:7240710
RGD:10450823
RGD:10450814
RGD:10450803
RGD:8554872
platelet-type bleeding disorder 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12l mediator complex subunit 12-like JBrowse link 2 149,213,134 149,316,569 RGD:8554872
G P2rx1 purinergic receptor P2X 1 JBrowse link 10 59,566,268 59,581,328 RGD:8554872
G P2ry12 purinergic receptor P2Y12 JBrowse link 2 149,440,807 149,482,592 RGD:7240710
RGD:8554872
platelet-type bleeding disorder 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:7240710
RGD:8554872
G Mocs2 molybdenum cofactor synthesis 2 JBrowse link 2 46,980,964 46,992,886 RGD:8554872
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 9 52,023,295 52,059,221 RGD:7240710
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8554872
RGD:7240710
prothrombin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:1601108
RGD:11554173
RGD:10449425
RGD:10449424
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:2312318
Prothrombin Deficiency, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:7240710
RGD:8554872
RGD:11565075
pseudoxanthoma elasticum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc1 ATP binding cassette subfamily C member 1 JBrowse link 10 549,537 672,235 RGD:8554872
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:737772
RGD:8554872
RGD:13792593
RGD:11554173
RGD:11038786
RGD:11038785
RGD:11038782
RGD:11038781
RGD:11038779
RGD:11038778
RGD:11038737
RGD:7240710
G Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li RGD:13792593
G Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li RGD:13792593
G Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li RGD:13792593
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:8547520
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585748
RGD:9585763
G Fopnl FGFR1OP N-terminal like JBrowse link 10 730,215 751,061 RGD:8554872
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:8547520
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657064
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8547520
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7483615
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:7240710
RGD:8554872
G Xylt2 xylosyltransferase 2 JBrowse link 10 82,386,003 82,399,485 RGD:7240710
RGD:11554173
RGD:8554872
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 4 100,277,345 100,293,097 RGD:7240710
RGD:11040509
RGD:8554872
purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:11528572
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 18 24,918,402 24,928,822 RGD:11554173
Quebec platelet disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:7240710
RGD:8554872
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:8554872
RGD:11554173
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:7240710
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 2 117,396,084 117,993,604 RGD:7240710
RGD:8554872
Shwartzman phenomenon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049456
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11060272
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 3 79,884,524 79,892,664 RGD:7240710
RGD:8554872
RGD:11553863
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872
Takenouchi-Kosaki Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42 cell division cycle 42 JBrowse link 5 155,690,267 155,728,385 RGD:7240710
RGD:8554872
Thrombocythemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:7240710
RGD:8554872
Thrombocythemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insl6 insulin-like 6 JBrowse link 1 247,473,292 247,476,827 RGD:8554872
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:7240710
RGD:8554872
thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd5 acyl-CoA binding domain containing 5 JBrowse link 17 89,882,465 89,923,982 RGD:8554872
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11554173
G Ankrd26 ankyrin repeat domain 26 JBrowse link 4 150,548,656 150,616,928 RGD:8554872
RGD:13592920
G Aspg asparaginase JBrowse link 6 136,682,279 136,701,673 RGD:11554173
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:11252148
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11528535
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352243
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Cycs cytochrome c, somatic JBrowse link 4 80,331,226 80,333,326 RGD:11352700
RGD:8554872
RGD:11554173
RGD:11352702
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Etv6 ets variant 6 JBrowse link 4 167,754,684 167,992,370 RGD:8554872
RGD:11554173
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:11049531
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040944
RGD:11554173
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:10755505
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:1582490
G Fyb1 FYN binding protein 1 JBrowse link 2 55,834,904 55,983,805 RGD:13592920
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:10450735
RGD:11554173
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:10450849
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:11554173
G Gp9 glycoprotein IX (platelet) JBrowse link 4 119,680,671 119,682,006 RGD:11554173
G Ifnl3 interferon, lambda 3 JBrowse link 1 85,236,243 85,237,775 RGD:11528555
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11041893
RGD:11049172
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:10450883
G Il3 interleukin 3 JBrowse link 10 39,620,535 39,622,973 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11041893
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:11530072
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:10755467
RGD:11554173
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:10755449
RGD:11554173
G Itpa inosine triphosphatase JBrowse link 3 123,209,611 123,221,266 RGD:10766473
RGD:11554173
G LOC100364500 RT1 class I, locus CE11-like JBrowse link 20 2,704,153 2,707,111 RGD:11554173
G Mastl microtubule associated serine/threonine kinase-like JBrowse link 17 89,839,562 89,875,855 RGD:1598951
RGD:8554872
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11530042
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:1600454
RGD:10449017
RGD:10449011
RGD:10448997
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449418
RGD:11554173
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:1600553
G P2ry12 purinergic receptor P2Y12 JBrowse link 2 149,440,807 149,482,592 RGD:6480523
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:11554173
G Pf4 platelet factor 4 JBrowse link 14 18,848,549 18,849,258 RGD:11554173
G Runx1 runt-related transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:11251691
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:10450520
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:11554173
G Tbxa2r thromboxane A2 receptor JBrowse link 7 11,253,153 11,259,233 RGD:11059527
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073617
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449459
RGD:11041893
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b JBrowse link 15 51,433,853 51,464,215 RGD:11554173
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:13592920
G Wdr1 WD repeat domain 1 JBrowse link 14 76,990,014 77,023,739 RGD:11554173
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:11554173
G Yme1l1 YME1-like 1 ATPase JBrowse link 17 89,701,899 89,741,919 RGD:8554872
Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:10450747
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:7240710
RGD:8554872
Thrombocytopenia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd26 ankyrin repeat domain 26 JBrowse link 4 150,548,656 150,616,928 RGD:7240710
RGD:8554872
RGD:9681743
G Mastl microtubule associated serine/threonine kinase-like JBrowse link 17 89,839,562 89,875,855 RGD:8554872
Thrombocytopenia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fyb1 FYN binding protein 1 JBrowse link 2 55,834,904 55,983,805 RGD:8554872
RGD:7240710
Thrombocytopenia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cycs cytochrome c, somatic JBrowse link 4 80,331,226 80,333,326 RGD:8554872
RGD:11352699
THROMBOCYTOPENIA 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Etv6 ets variant 6 JBrowse link 4 167,754,684 167,992,370 RGD:7240710
RGD:8554872
THROMBOCYTOPENIA 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 3 153,547,807 153,595,643 RGD:8554872
RGD:7240710
thrombocytopenia due to platelet alloimmunization term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11040770
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b JBrowse link 20 5,054,419 5,056,655 RGD:8554872
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 15,273,937 15,281,759 RGD:7240710
RGD:8554872
Thrombocytopenia, X-Linked, Intermittent term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:8554872
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd34a ankyrin repeat domain 34A JBrowse link 2 198,720,277 198,725,155 RGD:8554872
G Ankrd35 ankyrin repeat domain 35 JBrowse link 2 198,797,136 198,817,144 RGD:8554872
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:8554872
G Itga10 integrin subunit alpha 10 JBrowse link 2 198,772,937 198,792,253 RGD:8554872
G Lix1l limb and CNS expressed 1 like JBrowse link 2 198,726,110 198,751,987 RGD:8554872
G Nudt17 nudix hydrolase 17 JBrowse link 2 198,831,546 198,836,191 RGD:8554872
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:8554872
G Pias3 protein inhibitor of activated STAT, 3 JBrowse link 2 198,821,377 198,831,533 RGD:8554872
G Polr3c RNA polymerase III subunit C JBrowse link 2 198,836,282 198,852,368 RGD:8554872
G Polr3gl RNA polymerase III subunit G like JBrowse link 2 198,698,044 198,719,609 RGD:8554872
G Rbm8a RNA binding motif protein 8A JBrowse link 2 198,755,261 198,758,028 RGD:7240710
RGD:8554872
RGD:11554173
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:8554872
Thrombocytopenic Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp9 glycoprotein IX (platelet) JBrowse link 4 119,680,671 119,682,006 RGD:11040532
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:2316362
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:2316362
RGD:10755471
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:1580644
thrombocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calr calreticulin JBrowse link 19 25,956,771 25,961,666 RGD:11352752
G Cpb2 carboxypeptidase B2 JBrowse link 15 57,290,849 57,339,762 RGD:1598473
G Epor erythropoietin receptor JBrowse link 8 22,969,737 22,974,468 RGD:11041647
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:10450885
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:1627655
RGD:11554173
RGD:10449375
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:11073684
RGD:11554173
G Thpo thrombopoietin JBrowse link 11 82,845,676 82,853,439 RGD:1601655
RGD:11554173
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:8554872
Thrombotic Microangiopathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:11554173
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:5129554
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:11041165
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:11041165
G Cpb2 carboxypeptidase B2 JBrowse link 15 57,290,849 57,339,762 RGD:7243121
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11341690
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:11352673
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:10755463
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:6893633
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11533936
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533936
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11554173
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7205650
RGD:7207026
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 3 5,519,921 5,558,390 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10449043
RGD:1598736
RGD:10449037
RGD:10449028
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:11041104
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11554173
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11100014
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041754
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11340214
RGD:11554173
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:11554173
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 3 5,519,921 5,558,390 RGD:10449039
RGD:10449097
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11079195
type I Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
RGD:7240710
RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
RGD:13592920
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Lum lumican JBrowse link 7 38,820,058 38,826,862 RGD:13592920
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
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 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
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 9 52,023,295 52,059,221 RGD:11041770
RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Tnxb tenascin XB RGD:8554872
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483568
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:11040513
von Willebrand's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11341671
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:1331525
RGD:8554872
RGD:11079196
von Willebrand's disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:10766468
RGD:11530070
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:10766468
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11552591
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7240710
RGD:8554872
RGD:10766468
RGD:11079205
von Willebrand's disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:10766469
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:10766469
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:10766469
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7240710
RGD:8554872
RGD:10766469
RGD:11079206
RGD:11079203
RGD:11079202
RGD:11079201
RGD:11079200
von Willebrand's disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7240710
RGD:8554872
RGD:11079204
Waldenstroem's macroglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352304
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11040774
RGD:11352262
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049165
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11049165
G Irf4 interferon regulatory factor 4 JBrowse link 17 34,886,746 34,905,191 RGD:11530052
G Myd88 MYD88, innate immune signal transduction adaptor JBrowse link 8 128,022,512 128,027,462 RGD:8554872
RGD:11554173
RGD:7240710
Wiskott-Aldrich syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp3 forkhead box P3 JBrowse link X 15,753,175 15,768,648 RGD:13592920
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:1599803
RGD:8554872
RGD:11554173
RGD:7240710
G Wipf1 WAS/WASL interacting protein family, member 1 JBrowse link 3 60,150,001 60,207,125 RGD:11554173
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 3 60,150,001 60,207,125 RGD:7240710
RGD:8554872
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 15,273,937 15,281,759 RGD:8554872
RGD:7240710
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 15,273,937 15,281,759 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      hematopoietic system disease 1365
        hemorrhagic disease 376
          Bernard-Soulier syndrome + 4
          Familial Hemorrhagic Diathesis due to Antithrombin 0
          Glanzmann's thrombasthenia + 6
          Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
          Plasminogen Activator Inhibitor-1 Deficiency 5
          Waterhouse-Friderichsen syndrome + 0
          Wiskott-Aldrich syndrome + 3
          alpha-2-plasmin inhibitor deficiency 1
          blood platelet disease + 193
          congenital afibrinogenemia + 5
          disseminated intravascular coagulation + 17
          essential thrombocythemia 21
          factor V deficiency + 5
          factor VII deficiency 2
          factor VIII deficiency + 23
          factor X deficiency 2
          factor XI deficiency 1
          factor XII deficiency 2
          factor XIII deficiency + 3
          hemophilia B 2
          platelet storage pool deficiency + 32
          prothrombin deficiency + 2
          purpura + 53
          vascular hemostatic disease + 182
          vitamin K deficiency bleeding 2
          von Willebrand's disease + 7
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Hemic and Lymphatic Diseases 1580
        hematopoietic system disease 1365
          blood coagulation disease 390
            hemorrhagic disease 376
              Bernard-Soulier syndrome + 4
              Familial Hemorrhagic Diathesis due to Antithrombin 0
              Glanzmann's thrombasthenia + 6
              Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
              Plasminogen Activator Inhibitor-1 Deficiency 5
              Waterhouse-Friderichsen syndrome + 0
              Wiskott-Aldrich syndrome + 3
              alpha-2-plasmin inhibitor deficiency 1
              blood platelet disease + 193
              congenital afibrinogenemia + 5
              disseminated intravascular coagulation + 17
              essential thrombocythemia 21
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 23
              factor X deficiency 2
              factor XI deficiency 1
              factor XII deficiency 2
              factor XIII deficiency + 3
              hemophilia B 2
              platelet storage pool deficiency + 32
              prothrombin deficiency + 2
              purpura + 53
              vascular hemostatic disease + 182
              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.