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ONTOLOGY REPORT - ANNOTATIONS


Term:inherited blood coagulation disease
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Accession:DOID:2214 term browser browse the term
Definition:Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
Synonyms:exact_synonym: Hereditary Blood Coagulation Disorders;   Hereditary Coagulation Disorder;   Hereditary Coagulation Disorders;   Inherited Coagulation Disorder;   Inherited Coagulation Disorders;   inherited blood coagulation disorders
 primary_id: MESH:D025861;   RDO:0004767
 xref: ORDO:98429
For additional species annotation, visit the Alliance of Genome Resources.


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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
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 Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11099994
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
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
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:13464128
RGD:8554872
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 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 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
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
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 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
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, paraplegin matrix AAA peptidase subunit 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
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
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
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 CORVET/HOPS core subunit 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
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 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:13592920
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 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
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
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
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
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
Thrombasthenia-Thrombocytopenia, Hereditary 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:7240710
RGD:8554872
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:11079204
RGD:8554872
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 Wiskott-Aldrich syndrome JBrowse link X 15,155,246 15,164,099 RGD:1599803
RGD:7240710
RGD:8554872
RGD:11554173
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      hematopoietic system disease 1355
        blood coagulation disease 389
          inherited blood coagulation disease 99
            Activated Protein C Resistance 4
            Bernard-Soulier syndrome + 4
            Dysprothrombinemia 1
            Essential Athrombia 0
            Factors VIII, IX and XI, Combined Deficiency of 0
            Familial Multiple Coagulation Factor Deficiency II 0
            Familial Multiple Coagulation Factor Deficiency IV 0
            Familial Multiple Coagulation Factor Deficiency VI 0
            Familial Platelet Disorder with Associated Myeloid Malignancy 1
            Glanzmann's thrombasthenia + 6
            Hermansky-Pudlak syndrome + 26
            Passovoy Factor 0
            Pechet Factor Deficiency 0
            Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 1
            Quebec platelet disorder 1
            Scott syndrome 1
            Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 1
            Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 1
            Wiskott-Aldrich syndrome + 3
            antithrombin III deficiency 1
            congenital afibrinogenemia + 5
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 23
            factor X deficiency 2
            factor XI deficiency 1
            factor XII deficiency 2
            factor XIII deficiency + 3
            gray platelet syndrome + 4
            hemophilia B 2
            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 16 2
            platelet-type bleeding disorder 17 1
            platelet-type bleeding disorder 18 1
            platelet-type bleeding disorder 19 0
            platelet-type bleeding disorder 20 0
            platelet-type bleeding disorder 3 1
            platelet-type bleeding disorder 8 3
            platelet-type bleeding disorder 9 2
            protein C deficiency + 2
            prothrombin deficiency + 2
            von Willebrand's disease + 7
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Hemic and Lymphatic Diseases 1573
        hematopoietic system disease 1355
          blood coagulation disease 389
            inherited blood coagulation disease 99
              Activated Protein C Resistance 4
              Bernard-Soulier syndrome + 4
              Dysprothrombinemia 1
              Essential Athrombia 0
              Factors VIII, IX and XI, Combined Deficiency of 0
              Familial Multiple Coagulation Factor Deficiency II 0
              Familial Multiple Coagulation Factor Deficiency IV 0
              Familial Multiple Coagulation Factor Deficiency VI 0
              Familial Platelet Disorder with Associated Myeloid Malignancy 1
              Glanzmann's thrombasthenia + 6
              Hermansky-Pudlak syndrome + 26
              Passovoy Factor 0
              Pechet Factor Deficiency 0
              Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 1
              Quebec platelet disorder 1
              Scott syndrome 1
              Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 1
              Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 1
              Wiskott-Aldrich syndrome + 3
              antithrombin III deficiency 1
              congenital afibrinogenemia + 5
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 23
              factor X deficiency 2
              factor XI deficiency 1
              factor XII deficiency 2
              factor XIII deficiency + 3
              gray platelet syndrome + 4
              hemophilia B 2
              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 16 2
              platelet-type bleeding disorder 17 1
              platelet-type bleeding disorder 18 1
              platelet-type bleeding disorder 19 0
              platelet-type bleeding disorder 20 0
              platelet-type bleeding disorder 3 1
              platelet-type bleeding disorder 8 3
              platelet-type bleeding disorder 9 2
              protein C deficiency + 2
              prothrombin deficiency + 2
              von Willebrand's disease + 7
paths to the root