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ONTOLOGY REPORT - ANNOTATIONS
Term:blood platelet disease
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Accession:DOID:2218 term browser browse the term
Definition:Disorders caused by abnormalities in platelet count or function.
Synonyms:exact_synonym: Thrombocytopathies;   blood platelet disorder;   blood platelet disorders;   platelet disorder;   thrombocytopathy
 narrow_synonym: Thrombopathia
 primary_id: MESH:D001791
 alt_id: OMIA:001003;   RDO:0002359
 xref: OMIM:PS231200
For additional species annotation, visit the Alliance of Genome Resources.

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blood platelet disease 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:8554872
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:1600629
RGD:8554872
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
atypical hemolytic-uremic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:10449096
G Baat bile acid CoA:amino acid N-acyltransferase JBrowse link 5 64,768,397 64,777,368 RGD:8554872
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:8554872
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7364995
RGD:8554872
RGD:11554173
RGD:7240710
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:8554872
RGD:7240710
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:8554872
RGD:11554173
RGD:7240710
G Dgke diacylglycerol kinase epsilon JBrowse link 10 76,375,981 76,408,224 RGD:8554872
RGD:11554173
G RGD1564614 similar to complement factor H-related protein JBrowse link 13 56,889,669 56,958,549 RGD: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
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:8554872
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
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 Ix 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
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
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
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx1 RUNX family transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:7240710
RGD:8554872
Giant Platelet Syndrome with Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:8554872
Glanzmann's thrombasthenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:1582297
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:7240710
RGD:8554872
RGD:10755480
RGD:10755476
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:1580496
RGD:8554872
RGD:11554173
RGD:10755474
RGD:7240710
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
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
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:8554872
RGD:11554173
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:8554872
RGD:11554173
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:8554872
RGD:11554173
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:632833
RGD:8554872
RGD:11554173
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
IVIC 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
Jacobsen Distal 11q Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:8554872
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
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
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
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 Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:8554872
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 Runx1 RUNX family transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:8554872
G Slc7a11 solute carrier family 7 member 11 JBrowse link 2 139,453,774 139,528,479 RGD:13592920
platelet-type bleeding disorder 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:7240710
RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208509
platelet-type bleeding disorder 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp6 glycoprotein VI JBrowse link 1 72,994,977 73,064,639 RGD:7240710
RGD:8554872
Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxa2r thromboxane A2 receptor JBrowse link 7 11,253,153 11,259,233 RGD:11059528
RGD:8554872
RGD:11554173
RGD:7240710
platelet-type bleeding disorder 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxas1 thromboxane A synthase 1 JBrowse link 4 66,624,181 66,846,745 RGD:7240710
platelet-type bleeding disorder 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn1 actinin, alpha 1 JBrowse link 6 103,376,557 103,470,497 RGD:7240710
RGD:8554872
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:8554872
platelet-type bleeding disorder 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:7240710
RGD:8554872
RGD:10766467
RGD:10755470
RGD:10755469
RGD:10755462
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8554872
RGD:10755470
RGD:10755466
RGD:10755462
RGD:7240710
platelet-type bleeding disorder 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:8554872
RGD:7240710
platelet-type bleeding disorder 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rasgrp2 RAS guanyl releasing protein 2 JBrowse link 1 221,771,238 221,788,765 RGD:8554872
RGD:7240710
Platelet-Type Bleeding Disorder 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:8554872
RGD:7240710
Platelet-Type Bleeding Disorder 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb2 Eph receptor B2 JBrowse link 5 155,024,478 155,143,539 RGD:7240710
RGD:8554872
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:8554872
RGD:10450823
RGD:10450814
RGD:10450803
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 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
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
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
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 Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Abcg8 ATP binding cassette subfamily G member 8 JBrowse link 6 7,961,413 7,980,708 RGD:8554872
G Acbd5 acyl-CoA binding domain containing 5 JBrowse link 17 89,882,465 89,923,982 RGD:8554872
G Actn1 actinin, alpha 1 JBrowse link 6 103,376,557 103,470,497 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 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Etv6 ETS variant transcription factor 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:8554872
RGD:11554173
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:8554872
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:8554872
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:10450849
RGD:8554872
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:11554173
RGD:8554872
G Gp9 glycoprotein IX (platelet) JBrowse link 4 119,680,671 119,682,006 RGD:11554173
RGD:8554872
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:8554872
RGD:11554173
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:10755449
RGD:8554872
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:8554872
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
RGD:8554872
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 RUNX family transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:11251691
RGD:8554872
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 Tubb1 tubulin, beta 1 class VI JBrowse link 3 172,550,252 172,558,089 RGD:8554872
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:13592920
RGD:8554872
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 transcription factor 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:15039391
RGD:11554173
RGD:10449375
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:11073684
RGD:11554173
G Thpo thrombopoietin JBrowse link 11 82,845,676 82,853,439 RGD:1601655
RGD:11554173
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:8554872
Thrombotic Microangiopathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:11554173
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:5129554
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:11041165
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:11041165
G Cpb2 carboxypeptidase B2 JBrowse link 15 57,290,849 57,339,762 RGD:7243121
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11341690
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:11352673
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:10755463
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:6893633
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11533936
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533936
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11554173
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7205650
RGD:7207026
thrombotic thrombocytopenic purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10449043
RGD:1598736
RGD:10449037
RGD:10449028
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:11041104
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11554173
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11100014
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041754
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11340214
RGD:11554173
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:11554173
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:10449039
RGD:10449097
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11079195
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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      hematopoietic system disease 1464
        hemorrhagic disease 489
          blood platelet disease 193
            Bernard-Soulier syndrome + 4
            Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 0
            Familial Platelet Disorder with Associated Myeloid Malignancy 1
            Glanzmann's thrombasthenia + 4
            MYH-9 related disease + 1
            PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE 1
            Phospholipase A2, Group IVA, Deficiency of 1
            Platelet Aggregation, Spontaneous 0
            Platelet Factor 3 Deficiency 0
            Platelet Prostacyclin Receptor Defect 0
            Platelet Receptor for Collagen, Deficiency of 0
            Platelet Signal Processing Defect 0
            Platelet-Type Bleeding Disorder 13 1
            Platelet-Type Bleeding Disorder 21 1
            Platelet-Type Bleeding Disorder 22 1
            Primary Release Disorder Of Platelets 0
            Stormorken syndrome 1
            Undefined Platelet Disorder 0
            White Platelet Syndrome 0
            X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities 1
            gray platelet syndrome + 4
            platelet storage pool deficiency + 31
            platelet-type bleeding disorder 10 2
            platelet-type bleeding disorder 11 1
            platelet-type bleeding disorder 12 0
            platelet-type bleeding disorder 14 1
            platelet-type bleeding disorder 15 2
            platelet-type bleeding disorder 18 1
            platelet-type bleeding disorder 19 0
            platelet-type bleeding disorder 20 0
            platelet-type bleeding disorder 8 2
            platelet-type bleeding disorder 9 2
            qualitative platelet defect 0
            thrombocytopenia + 133
            thrombocytosis + 25
            von Willebrand's disease + 7
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Hemic and Lymphatic Diseases 1734
        hematopoietic system disease 1464
          blood coagulation disease 501
            hemorrhagic disease 489
              blood platelet disease 193
                Bernard-Soulier syndrome + 4
                Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 0
                Familial Platelet Disorder with Associated Myeloid Malignancy 1
                Glanzmann's thrombasthenia + 4
                MYH-9 related disease + 1
                PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE 1
                Phospholipase A2, Group IVA, Deficiency of 1
                Platelet Aggregation, Spontaneous 0
                Platelet Factor 3 Deficiency 0
                Platelet Prostacyclin Receptor Defect 0
                Platelet Receptor for Collagen, Deficiency of 0
                Platelet Signal Processing Defect 0
                Platelet-Type Bleeding Disorder 13 1
                Platelet-Type Bleeding Disorder 21 1
                Platelet-Type Bleeding Disorder 22 1
                Primary Release Disorder Of Platelets 0
                Stormorken syndrome 1
                Undefined Platelet Disorder 0
                White Platelet Syndrome 0
                X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities 1
                gray platelet syndrome + 4
                platelet storage pool deficiency + 31
                platelet-type bleeding disorder 10 2
                platelet-type bleeding disorder 11 1
                platelet-type bleeding disorder 12 0
                platelet-type bleeding disorder 14 1
                platelet-type bleeding disorder 15 2
                platelet-type bleeding disorder 18 1
                platelet-type bleeding disorder 19 0
                platelet-type bleeding disorder 20 0
                platelet-type bleeding disorder 8 2
                platelet-type bleeding disorder 9 2
                qualitative platelet defect 0
                thrombocytopenia + 133
                thrombocytosis + 25
                von Willebrand's disease + 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.