ONTOLOGY REPORT - ANNOTATIONS


Term:blood coagulation disease
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Accession:DOID:1247 term browser browse the term
Definition:Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions.
Synonyms:exact_synonym: Blood Coagulation Disorder;   Blood Coagulation Disorders;   postpartum coagulation defect;   postpartum coagulation defect with delivery
 narrow_synonym: PROTEIN Z DEFICIENCY
 related_synonym: FIBRINOGEN MILANO XII, DIGENIC
 primary_id: MESH:D001778;   RDO:0002821
For additional species annotation, visit the Alliance of Genome Resources.


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blood coagulation disease 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:11554173
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11554173
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:11554173
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:8554872
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:8554872
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:11554173
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11541080
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11100017
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:11250417
G Proz protein Z, vitamin K-dependent plasma glycoprotein JBrowse link 16 81,784,348 81,797,889 RGD:1580102
RGD:8554872
G Serpinc1 serpin family C member 1 JBrowse link 13 78,806,107 78,820,375 RGD:11554173
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:11554173
Acquired Protein C Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:11080962
Activated Protein C Resistance 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:8554872
RGD:7240710
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:11554173
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11554173
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
antithrombin III deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinc1 serpin family C member 1 JBrowse link 13 78,806,107 78,820,375 RGD:1599321
RGD:8554872
RGD:11554173
RGD:7240710
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:11554173
RGD:7240710
RGD:8554872
RGD:11040768
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:7240710
RGD:11554173
RGD:11352810
RGD:11040768
RGD:11352768
RGD:11038684
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7242707
RGD:7240710
RGD:8554872
RGD:11554173
RGD:11040768
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:1599886
RGD:7240710
RGD:8554872
RGD:11554173
RGD:11041172
RGD:11041162
RGD:11040768
RGD:7364995
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:8554872
RGD:11554173
RGD:7240710
RGD:11041162
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:6906889
RGD:11554173
RGD:7240710
RGD:8554872
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:8554872
RGD:11554173
RGD:7240710
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:8554872
RGD:7240710
RGD:11554173
RGD:11038691
RGD:11038684
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
coagulation protein disease 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:1598791
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
Congenital Thrombotic Disease, due to Protein C Deficiency 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
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
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
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
Dysprothrombinemia 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:8554872
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 Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
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
RGD:8554872
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 Mixed Cryoglobulinemia 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
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
Flaujeac Factor Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:1600407
RGD:8554872
RGD:7240710
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
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
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
Hereditary Thrombophilia 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:11554173
G Habp2 hyaluronan binding protein 2 JBrowse link 1 277,068,715 277,104,567 RGD:8554872
G Nrap nebulin-related anchoring protein JBrowse link 1 277,104,519 277,181,397 RGD:8554872
Hereditary Thrombophilia, due To Protein C Deficiency, Autosomal Dominant 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:8554872
RGD:7240710
Hereditary Thrombophilia, due to Protein C Deficiency, Autosomal Recessive 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:7240710
RGD:8554872
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:7240710
RGD:8554872
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:7240710
RGD:8554872
G Stx19 syntaxin 19 JBrowse link 7 1,145,002 1,149,978 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
inherited blood coagulation 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:11041654
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:1598791
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Tbxa2r thromboxane A2 receptor JBrowse link 7 11,253,153 11,259,233 RGD:13592920
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
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
Phospholipase A2, Group IVA, Deficiency of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g4a phospholipase A2 group IVA JBrowse link 13 67,062,252 67,206,688 RGD:7240710
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:11554173
RGD:7240710
RGD:8554872
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
Prekallikrein Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klkb1 kallikrein B1 JBrowse link 16 50,151,127 50,175,407 RGD:7240710
RGD:8554872
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
protein C deficiency 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:1578392
RGD:11554173
RGD:11099985
RGD:11099984
protein S deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:1599209
RGD:8554872
RGD:11251679
RGD:11251677
RGD:11250419
RGD:11250418
RGD:11250415
RGD:1578677
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060129
RGD:11060140
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
Scott syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano6 anoctamin 6 JBrowse link 7 137,142,063 137,335,208 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:7240710
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-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
thrombophilia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11040779
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:11040779
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:11352772
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:7240710
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:7240710
RGD:8554872
RGD:11554173
RGD:7387320
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11341696
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:8554872
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:11554173
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:1601167
RGD:11554173
G Habp2 hyaluronan binding protein 2 JBrowse link 1 277,068,715 277,104,567 RGD:7240710
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10449396
G Plg plasminogen JBrowse link 1 48,521,828 48,563,895 RGD:1601404
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:1578514
RGD:11099991
RGD:1581278
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041740
G Serpina10 serpin family A member 10 JBrowse link 6 127,500,014 127,508,470 RGD:1580104
RGD:11554173
G Serpind1 serpin family D member 1 JBrowse link 11 87,913,814 87,924,880 RGD:11554173
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:11554173
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:7240710
RGD:8554872
Thrombophilia due to Thrombomodulin Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:7240710
RGD:8554872
Thrombophilia, Familial, due to Decreased Release of Tissue Plasminogen Activator 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:7240710
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
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 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
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 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:11040511
RGD:11040510
RGD:8554872
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:7240710
RGD:1303972
RGD:11554173
RGD:8554872
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, 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
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:10450749
RGD:10450743
RGD:10450740
RGD:7240710
X-Linked Thrombophilia, due to Factor IX Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      hematopoietic system disease 1375
        blood coagulation disease 392
          Bleeding Disorder, East Texas Type 0
          Car Factor Deficiency 0
          Ecchymosis 0
          Fibrinolytic Defect 0
          Flaujeac Factor Deficiency 1
          Globulin Anomaly involving Beta (2A)-Globulin 0
          Hyperheparinemia 0
          Plasma Clot Retraction Factor, Deficiency of 0
          Platelet-Type Bleeding Disorder 13 1
          Prekallikrein Deficiency 1
          acquired von Willebrand syndrome 0
          coagulation protein disease + 45
          disseminated intravascular coagulation + 17
          essential thrombocythemia 21
          hemorrhagic disease + 378
          inherited blood coagulation disease + 99
          platelet storage pool deficiency + 32
          platelet-type bleeding disorder 14 1
          protein S deficiency + 4
          purpura + 53
          thrombophilia + 37
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          blood coagulation disease 392
            Bleeding Disorder, East Texas Type 0
            Car Factor Deficiency 0
            Ecchymosis 0
            Fibrinolytic Defect 0
            Flaujeac Factor Deficiency 1
            Globulin Anomaly involving Beta (2A)-Globulin 0
            Hyperheparinemia 0
            Plasma Clot Retraction Factor, Deficiency of 0
            Platelet-Type Bleeding Disorder 13 1
            Prekallikrein Deficiency 1
            acquired von Willebrand syndrome 0
            coagulation protein disease + 45
            disseminated intravascular coagulation + 17
            essential thrombocythemia 21
            hemorrhagic disease + 378
            inherited blood coagulation disease + 99
            platelet storage pool deficiency + 32
            platelet-type bleeding disorder 14 1
            protein S deficiency + 4
            purpura + 53
            thrombophilia + 37
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.