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ONTOLOGY REPORT - ANNOTATIONS


Term:hemorrhagic disease
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Accession:DOID:2213 term browser browse the term
Definition:Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
Synonyms:exact_synonym: Hemorrhagic Diatheses;   Hemorrhagic Diathesis;   Hemorrhagic Disorder;   Hemorrhagic Disorders
 primary_id: MESH:D006474;   RDO:0003677
 xref: ICD10CM:D69.9;   ICD9CM:287.9
For additional species annotation, visit the Alliance of Genome Resources.


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hemorrhagic disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTN1 actinin alpha 1 JBrowse link 7 92,550,132 92,644,842 RGD:9068941
G ARVCF ARVCF delta catenin family member JBrowse link 14 51,403,215 51,440,036 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 12 26,379,087 26,397,180 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 1 273,934,219 274,083,264 RGD:9068941
G COMT catechol-O-methyltransferase JBrowse link 14 51,384,729 51,403,997 RGD:9068941
G DGCR6L DiGeorge syndrome critical region gene 6 like JBrowse link 14 51,644,840 51,657,368 RGD:9068941
G DGCR8 DGCR8 microprocessor complex subunit JBrowse link 14 51,473,512 51,489,535 RGD:9068941
G F10 coagulation factor X JBrowse link 11 78,521,760 78,538,256 RGD:9068941
G F11 coagulation factor XI JBrowse link 17 9,045,990 9,073,552 RGD:9068941
G F5 coagulation factor V JBrowse link 4 81,403,273 81,484,908 RGD:9068941
G F7 coagulation factor VII JBrowse link 11 78,512,389 78,518,668 RGD:9068941
G F8 coagulation factor VIII JBrowse link X 125,265,330 125,350,853 RGD:9068941
G FGA fibrinogen alpha chain JBrowse link 8 74,574,870 74,584,202 RGD:9068941
G FGB fibrinogen beta chain JBrowse link 8 74,598,170 74,607,409 RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 8 74,553,040 74,562,151 RGD:9068941
G GGCX gamma-glutamyl carboxylase JBrowse link 3 59,202,363 59,219,807 RGD:9068941
G GNAS GNAS complex locus JBrowse link 17 58,985,580 59,053,022 RGD:9068941
G GNB1L G protein subunit beta 1 like JBrowse link 14 51,306,561 51,343,040 RGD:9068941
G GP1BB glycoprotein Ib platelet subunit beta JBrowse link 14 51,261,097 51,261,903 RGD:9068941
G GP6 glycoprotein VI platelet JBrowse link 6 59,214,227 59,237,860 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:9068941
G KLHL22 kelch like family member 22 JBrowse link 14 50,773,917 50,809,991 RGD:9068941
G MED15 mediator complex subunit 15 JBrowse link 14 50,703,010 50,759,310 RGD:9068941
G PI4KA phosphatidylinositol 4-kinase alpha JBrowse link 14 50,390,416 50,491,983 RGD:9068941
G PROS1 protein S JBrowse link 13 165,915,298 165,999,118 RGD:9068941
G RANBP1 RAN binding protein 1 JBrowse link 14 51,494,258 51,500,420 RGD:9068941
G RASGRP2 RAS guanyl releasing protein 2 JBrowse link 2 7,424,805 7,440,404 RGD:9068941
G RTL10 retrotransposon Gag like 10 JBrowse link 14 51,338,134 51,342,383 RGD:9068941
G RTN4R reticulon 4 receptor JBrowse link 14 51,579,043 51,603,180 RGD:9068941
G SCARF2 scavenger receptor class F member 2 JBrowse link 14 50,813,161 50,824,434 RGD:9068941
G SEPTIN5 septin 5 JBrowse link 14 51,252,815 51,260,851 RGD:9068941
G SERPIND1 serpin family D member 1 JBrowse link 14 50,427,121 50,436,470 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 3 8,863,738 8,871,572 RGD:9068941
G SERPINF2 serpin family F member 2 JBrowse link 12 47,934,551 47,942,283 RGD:9068941
G TANGO2 transport and golgi organization 2 homolog JBrowse link 14 51,443,597 51,464,370 RGD:9068941
G TBX1 T-box transcription factor 1 JBrowse link 14 51,289,376 51,297,110 RGD:9068941
G TBXA2R thromboxane A2 receptor JBrowse link 2 75,068,413 75,081,305 RGD:9068941
G THBD thrombomodulin JBrowse link 17 30,219,870 30,223,499 RGD:9068941
G TRMT2A tRNA methyltransferase 2 homolog A JBrowse link 14 51,489,889 51,494,204 RGD:9068941
G TXNRD2 thioredoxin reductase 2 JBrowse link 14 51,355,731 51,385,096 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:9068941
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 JBrowse link 14 51,503,074 51,517,577 RGD:9068941
G ZNF74 zinc finger protein 74 JBrowse link 14 50,840,500 50,869,945 RGD:9068941
Acute Traumatic Coagulopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLAT plasminogen activator, tissue type JBrowse link 17 11,195,599 11,223,821 RGD:9068941
alpha-2-plasmin inhibitor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SERPINF2 serpin family F member 2 JBrowse link 12 47,934,551 47,942,283 RGD:7240710
RGD:9068941
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 1 273,022,014 273,066,916 RGD:9068941
G C2 complement C2 JBrowse link 7 24,020,590 24,034,042 RGD:9068941
G C3 complement C3 JBrowse link 2 72,431,470 72,471,622 RGD:7240710
RGD:9068941
G C3AR1 complement C3a receptor 1 JBrowse link 5 63,088,778 63,098,750 RGD:9068941
G CD46 CD46 molecule, complement regulatory protein JBrowse link 9 135,025,439 135,078,910 RGD:7240710
RGD:9068941
G CFB complement factor B JBrowse link 7 24,034,077 24,040,523 RGD:7240710
RGD:9068941
G CFH complement factor H RGD:12801476
RGD:9068941
RGD:7240710
G CFI complement factor I JBrowse link 8 112,430,824 112,470,844 RGD:7240710
RGD:9068941
G DGKE diacylglycerol kinase epsilon JBrowse link 12 33,141,439 33,172,412 RGD:9068941
G LOC102158534 bile acid-CoA:amino acid N-acyltransferase-like JBrowse link 1 243,065,668 243,084,816 RGD:9068941
G THBD thrombomodulin JBrowse link 17 30,219,870 30,223,499 RGD:7240710
RGD:9068941
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 1 273,022,014 273,066,916 RGD:9068941
G ALB albumin JBrowse link 8 69,643,427 69,663,152 RGD:9068941
G CD40 CD40 molecule JBrowse link 17 48,286,116 48,298,188 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 111,778,666 111,788,901 RGD:9068941
G CD86 CD86 molecule JBrowse link 13 138,427,573 138,504,307 RGD:9068941
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 3 113,501,972 113,609,148 RGD:9068941
G DNMT3B DNA methyltransferase 3 beta JBrowse link 17 36,345,715 36,386,076 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 14 100,927,305 100,954,781 RGD:9068941
G FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) JBrowse link 4 88,873,762 88,892,964 RGD:9068941
G FCGR3A Fc fragment of IgG receptor IIIa JBrowse link 4 88,948,357 88,956,513 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:9068941
G IL10 interleukin 10 JBrowse link 9 67,400,727 67,405,941 RGD:9068941
G IL18 interleukin 18 JBrowse link 9 39,839,959 39,861,258 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 3 43,718,320 43,731,668 RGD:9068941
G IL1RN interleukin 1 receptor antagonist RGD:9068941
G IL2 interleukin 2 JBrowse link 8 101,640,938 101,645,683 RGD:9068941
G IL4 interleukin 4 JBrowse link 2 134,986,817 134,994,365 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:9068941
G MIR130A microRNA mir-130a JBrowse link 2 13,296,695 13,296,773 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 17 11,195,599 11,223,821 RGD:9068941
G PTPN22 protein tyrosine phosphatase non-receptor type 22 JBrowse link 4 106,692,102 106,758,101 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TUBB1 tubulin beta 1 class VI JBrowse link 17 59,161,420 59,168,385 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH9 myosin heavy chain 9 JBrowse link 5 11,365,603 11,456,475 RGD:7240710
RGD:9068941
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL3A1 collagen type III alpha 1 chain JBrowse link 15 93,556,914 93,595,678 RGD:7240710
RGD:9068941
Bernard-Soulier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:7240710
RGD:9068941
G GP1BB glycoprotein Ib platelet subunit beta JBrowse link 14 51,261,097 51,261,903 RGD:7240710
RGD:9068941
G GP9 glycoprotein IX platelet JBrowse link 13 71,558,768 71,565,134 RGD:7240710
RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:9068941
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:7240710
RGD:9068941
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:9068941
Bernard-Soulier Syndrome, Type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:9068941
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP1BB glycoprotein Ib platelet subunit beta JBrowse link 14 51,261,097 51,261,903 RGD:9068941
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP9 glycoprotein IX platelet JBrowse link 13 71,558,768 71,565,134 RGD:9068941
blood platelet disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD36 CD36 molecule JBrowse link 9 99,685,748 99,782,296 RGD:9068941
G FERMT3 fermitin family member 3 JBrowse link 2 7,886,781 7,909,892 RGD:9068941
G LOC100516390 ankyrin repeat domain-containing protein 26 JBrowse link 10 48,694,806 48,795,783 RGD:9068941
G PLA2G4A phospholipase A2 group IVA JBrowse link 9 127,853,581 128,164,825 RGD:9068941
G TBXA2R thromboxane A2 receptor JBrowse link 2 75,068,413 75,081,305 RGD:9068941
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 1 130,845,103 130,847,203 RGD:9068941
G PRDM5 PR/SET domain 5 JBrowse link 8 103,188,312 103,383,955 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 6 1,161,514 1,208,406 RGD:9068941
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM5 PR/SET domain 5 JBrowse link 8 103,188,312 103,383,955 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 6 1,161,514 1,208,406 RGD:7240710
RGD:9068941
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM5 PR/SET domain 5 JBrowse link 8 103,188,312 103,383,955 RGD:7240710
RGD:9068941
Cardiac Valvular Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A JBrowse link X 124,889,934 124,915,000 RGD:7240710
RGD:9068941
cavernous hemangioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCM2 CCM2 scaffold protein JBrowse link 18 50,396,423 50,450,442 RGD:9068941
G KRIT1 KRIT1 ankyrin repeat containing JBrowse link 9 72,143,652 72,184,774 RGD:9068941
cerebral cavernous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKIB1 ankyrin repeat and IBR domain containing 1 JBrowse link 9 72,184,805 72,328,765 RGD:9068941
G CCM2 CCM2 scaffold protein JBrowse link 18 50,396,423 50,450,442 RGD:9068941
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 11 5,620,698 5,797,095 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 8 41,809,116 41,856,379 RGD:9068941
G KRIT1 KRIT1 ankyrin repeat containing JBrowse link 9 72,143,652 72,184,774 RGD:7240710
RGD:9068941
G PDCD10 programmed cell death 10 JBrowse link 13 106,517,408 106,558,959 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 9 74,943,646 74,974,720 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 14 99,929,590 100,021,619 RGD:9068941
G SERPINI1 serpin family I member 1 JBrowse link 13 106,559,326 106,636,930 RGD:9068941
cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRIT1 KRIT1 ankyrin repeat containing JBrowse link 9 72,143,652 72,184,774 RGD:7240710
RGD:9068941
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCM2 CCM2 scaffold protein JBrowse link 18 50,396,423 50,450,442 RGD:7240710
RGD:9068941
G NACAD NAC alpha domain containing JBrowse link 18 50,385,116 50,394,787 RGD:9068941
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDCD10 programmed cell death 10 JBrowse link 13 106,517,408 106,558,959 RGD:7240710
RGD:9068941
congenital afibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB11 ATP binding cassette subfamily B member 11 JBrowse link 15 75,402,296 75,487,092 RGD:9068941
G CFI complement factor I JBrowse link 8 112,430,824 112,470,844 RGD:9068941
G FGA fibrinogen alpha chain JBrowse link 8 74,574,870 74,584,202 RGD:7240710
RGD:9068941
G FGB fibrinogen beta chain JBrowse link 8 74,598,170 74,607,409 RGD:7240710
RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 8 74,553,040 74,562,151 RGD:7240710
RGD:9068941
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 6 167,896,191 167,908,988 RGD:7240710
RGD:9068941
congenital disorder of glycosylation Ix term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STT3B STT3 oligosaccharyltransferase complex catalytic subunit B JBrowse link 13 17,532,341 17,635,039 RGD:7240710
RGD:9068941
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGA fibrinogen alpha chain JBrowse link 8 74,574,870 74,584,202 RGD:9068941
G FGB fibrinogen beta chain JBrowse link 8 74,598,170 74,607,409 RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 8 74,553,040 74,562,151 RGD:9068941
cryoglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 JBrowse link 9 93,049,955 93,146,469 RGD:9068941
G CD86 CD86 molecule JBrowse link 13 138,427,573 138,504,307 RGD:9068941
G LOC102161030 interferon lambda-4 JBrowse link 6 47,946,679 47,948,710 RGD:9068941
G TCN2 transcobalamin 2 JBrowse link 14 47,496,245 47,515,966 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
G TSLP thymic stromal lymphopoietin JBrowse link 2 115,832,152 115,837,572 RGD:9068941
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 1 273,022,014 273,066,916 RGD:9068941
G ELANE elastase, neutrophil expressed JBrowse link 2 77,513,769 77,516,118 RGD:9068941
G F13A1 coagulation factor XIII A chain JBrowse link 7 3,751,290 3,900,797 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 2 15,793,257 15,819,151 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link 4 122,827,018 122,837,673 RGD:9068941
G F7 coagulation factor VII JBrowse link 11 78,512,389 78,518,668 RGD:9068941
G FGA fibrinogen alpha chain JBrowse link 8 74,574,870 74,584,202 RGD:9068941
G IL10 interleukin 10 JBrowse link 9 67,400,727 67,405,941 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G OXT oxytocin/neurophysin I prepropeptide JBrowse link 17 32,605,586 32,606,449 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 17 11,195,599 11,223,821 RGD:9068941
G PROC protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 15 25,043,543 25,054,310 RGD:9068941
G SERPINC1 serpin family C member 1 JBrowse link 9 116,181,988 116,193,100 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 3 8,863,738 8,871,572 RGD:9068941
G TFPI tissue factor pathway inhibitor JBrowse link 15 92,345,083 92,409,962 RGD:9068941
G THBD thrombomodulin JBrowse link 17 30,219,870 30,223,499 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC2 ATP binding cassette subfamily C member 2 JBrowse link 14 110,955,698 111,038,898 RGD:9068941
G DPYD dihydropyrimidine dehydrogenase JBrowse link 4 119,931,471 120,712,461 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 3 43,718,320 43,731,668 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 12 14,667,643 14,723,296 RGD:9068941
Dysfibrinogenemia, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGA fibrinogen alpha chain JBrowse link 8 74,574,870 74,584,202 RGD:7240710
RGD:9068941
G FGB fibrinogen beta chain JBrowse link 8 74,598,170 74,607,409 RGD:7240710
RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 8 74,553,040 74,562,151 RGD:7240710
RGD:9068941
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A2 collagen type I alpha 2 chain JBrowse link 9 74,174,484 74,210,407 RGD:9068941
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 JBrowse link 2 79,182,901 79,406,879 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 2 80,349,732 80,359,878 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 12 26,379,087 26,397,180 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 9 74,174,484 74,210,407 RGD:9068941
G COL3A1 collagen type III alpha 1 chain JBrowse link 15 93,556,914 93,595,678 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 1 273,934,219 274,083,264 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 15 93,611,856 93,981,131 RGD:9068941
G DCN decorin JBrowse link 5 91,678,601 91,713,925 RGD:9068941
G FLNA filamin A JBrowse link X 124,889,934 124,915,000 RGD:9068941
G LOX lysyl oxidase JBrowse link 2 125,595,115 125,607,026 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 6 71,987,938 72,019,712 RGD:9068941
G SLC39A13 solute carrier family 39 member 13 JBrowse link 2 15,194,028 15,202,936 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
G TNXB tenascin XB JBrowse link 7 24,088,873 24,155,815 RGD:9068941
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNXB tenascin XB JBrowse link 7 24,088,873 24,155,815 RGD:7240710
RGD:9068941
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 6 63,540,066 63,541,962 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 2 80,349,732 80,359,878 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL3A1 collagen type III alpha 1 chain JBrowse link 15 93,556,914 93,595,678 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 15 93,611,856 93,981,131 RGD:9068941
G SLC40A1 solute carrier family 40 member 1 JBrowse link 15 94,140,635 94,161,793 RGD:9068941
G WDR75 WD repeat domain 75 JBrowse link 15 93,981,054 94,026,479 RGD:9068941
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 6 71,987,938 72,019,712 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 8 69,643,427 69,663,152 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 12 26,379,087 26,397,180 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 9 74,174,484 74,210,407 RGD:9068941
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1R complement C1r JBrowse link 5 63,644,097 63,655,149 RGD:7240710
RGD:9068941
G C1S complement C1s JBrowse link 5 63,670,309 63,681,466 RGD:9068941
Ehlers-Danlos Syndrome, Cardiac Valvular Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A2 collagen type I alpha 2 chain JBrowse link 9 74,174,484 74,210,407 RGD:7240710
RGD:9068941
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AEBP1 AE binding protein 1 JBrowse link 18 51,046,895 51,056,789 RGD:7240710
RGD:9068941
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP14 FKBP prolyl isomerase 14 JBrowse link 18 42,903,100 42,913,609 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 1 130,845,103 130,847,203 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSE dermatan sulfate epimerase JBrowse link 1 81,996,894 82,063,847 RGD:7240710
RGD:9068941
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1R complement C1r JBrowse link 5 63,644,097 63,655,149 RGD:9068941
G C1S complement C1s JBrowse link 5 63,670,309 63,681,466 RGD:7240710
RGD:9068941
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 6 63,540,066 63,541,962 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 8 69,643,427 69,663,152 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 12 26,379,087 26,397,180 RGD:7240710
RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 9 74,174,484 74,210,407 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 1 273,934,219 274,083,264 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 15 93,611,856 93,981,131 RGD:9068941
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 JBrowse link 2 79,182,901 79,406,879 RGD:7240710
RGD:9068941
essential thrombocythemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATG2B autophagy related 2B JBrowse link 7 117,506,298 117,586,651 RGD:9068941
G BDKRB1 bradykinin receptor B1 JBrowse link 7 117,491,350 117,492,410 RGD:9068941
G BDKRB2 bradykinin receptor B2 JBrowse link 7 117,438,622 117,472,005 RGD:9068941
G C7H14orf132 chromosome 7 C14orf132 homolog JBrowse link 7 117,242,442 117,291,577 RGD:9068941
G CALR calreticulin JBrowse link 2 66,098,263 66,102,074 RGD:7240710
RGD:9068941
G CD36 CD36 molecule JBrowse link 9 99,685,748 99,782,296 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 111,778,666 111,788,901 RGD:9068941
G ELANE elastase, neutrophil expressed JBrowse link 2 77,513,769 77,516,118 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 8 101,278,877 101,344,084 RGD:9068941
G GSKIP GSK3B interacting protein JBrowse link 7 117,586,742 117,607,575 RGD:9068941
G JAK2 Janus kinase 2 JBrowse link 1 216,849,744 217,002,310 RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 6 167,896,191 167,908,988 RGD:9068941
G MYB MYB proto-oncogene, transcription factor JBrowse link 1 28,819,500 28,856,222 RGD:9068941
G PDGFA platelet derived growth factor subunit A JBrowse link 3 296,399 322,967 RGD:9068941
G PDGFB platelet derived growth factor subunit B RGD:9068941
G SH2B3 SH2B adaptor protein 3 JBrowse link 14 32,623,286 32,664,606 RGD:7240710
RGD:9068941
G TCL1A T cell leukemia/lymphoma 1A JBrowse link 7 116,933,785 116,939,353 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
G THPO thrombopoietin JBrowse link 13 122,259,654 122,267,860 RGD:7240710
RGD:9068941
G VCAM1 vascular cell adhesion molecule 1 JBrowse link 4 117,496,914 117,511,211 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:9068941
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPP2 tripeptidyl peptidase 2 JBrowse link 11 70,943,142 71,009,381 RGD:9068941
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit JBrowse link 3 93,620,921 93,633,018 RGD:7240710
RGD:9068941
factor V deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F5 coagulation factor V JBrowse link 4 81,403,273 81,484,908 RGD:7240710
RGD:9068941
G LMAN1 lectin, mannose binding 1 JBrowse link 1 161,607,122 161,631,650 RGD:9068941
G TFPI tissue factor pathway inhibitor JBrowse link 15 92,345,083 92,409,962 RGD:9068941
factor VII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link 11 78,521,760 78,538,256 RGD:9068941
G F7 coagulation factor VII JBrowse link 11 78,512,389 78,518,668 RGD:7240710
RGD:9068941
factor VIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 2 72,431,470 72,471,622 RGD:9068941
G C5 complement C5 JBrowse link 1 260,995,662 261,088,868 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 111,778,666 111,788,901 RGD:9068941
G CFB complement factor B JBrowse link 7 24,034,077 24,040,523 RGD:9068941
G CFP complement factor properdin JBrowse link X 42,145,754 42,152,879 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 2 15,793,257 15,819,151 RGD:9068941
G F8 coagulation factor VIII JBrowse link X 125,265,330 125,350,853 RGD:7240710
RGD:9068941
G F9 coagulation factor IX JBrowse link X 114,218,704 114,250,436 RGD:9068941
G HMOX1 heme oxygenase 1 RGD:9068941
G IFNG interferon gamma JBrowse link 5 32,477,906 32,482,670 RGD:9068941
G IL10 interleukin 10 JBrowse link 9 67,400,727 67,405,941 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 17 11,195,599 11,223,821 RGD:9068941
G TFPI tissue factor pathway inhibitor JBrowse link 15 92,345,083 92,409,962 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:9068941
Factor VIII Deficiency, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link X 125,265,330 125,350,853 RGD:9068941
factor X deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link 11 78,521,760 78,538,256 RGD:7240710
RGD:9068941
G F11 coagulation factor XI JBrowse link 17 9,045,990 9,073,552 RGD:9068941
G F7 coagulation factor VII JBrowse link 11 78,512,389 78,518,668 RGD:9068941
factor XI deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F11 coagulation factor XI JBrowse link 17 9,045,990 9,073,552 RGD:7240710
RGD:9068941
factor XII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 2 80,527,451 80,544,835 RGD:7240710
RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 2 80,548,208 80,563,380 RGD:9068941
factor XIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13A1 coagulation factor XIII A chain JBrowse link 7 3,751,290 3,900,797 RGD:9068941
G F13B coagulation factor XIII B chain RGD:9068941
G LMAN1 lectin, mannose binding 1 JBrowse link 1 161,607,122 161,631,650 RGD:9068941
Factor Xiii, A Subunit, Deficiency Of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13A1 coagulation factor XIII A chain JBrowse link 7 3,751,290 3,900,797 RGD:7240710
RGD:9068941
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13B coagulation factor XIII B chain RGD:7240710
RGD:9068941
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 12 15,394,487 15,414,609 RGD:9068941
G CAND2 cullin associated and neddylation dissociated 2 (putative) JBrowse link 13 68,758,739 68,787,200 RGD:9068941
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FCGR3A Fc fragment of IgG receptor IIIa JBrowse link 4 88,948,357 88,956,513 RGD:9068941
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMAN1 lectin, mannose binding 1 JBrowse link 1 161,607,122 161,631,650 RGD:7240710
RGD:9068941
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit JBrowse link 3 93,620,921 93,633,018 RGD:9068941
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUNX1 RUNX family transcription factor 1 JBrowse link 13 198,371,835 198,635,648 RGD:7240710
RGD:9068941
Glanzmann's thrombasthenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA2 integrin subunit alpha 2 JBrowse link 16 32,336,240 32,440,311 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 12 18,860,739 18,877,381 RGD:7240710
RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:7240710
RGD:9068941
gray platelet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC12 coiled-coil domain containing 12 JBrowse link 13 29,785,581 29,846,683 RGD:9068941
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 1 272,701,386 272,715,551 RGD:9068941
G NBEAL2 neurobeachin like 2 JBrowse link 13 29,847,406 29,881,904 RGD:7240710
RGD:9068941
hemolytic-uremic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 8 69,643,427 69,663,152 RGD:9068941
G C3 complement C3 JBrowse link 2 72,431,470 72,471,622 RGD:9068941
G CCL2 chemokine (C-C motif) ligand 2 JBrowse link 12 40,798,109 40,800,013 RGD:9068941
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 JBrowse link 12 39,491,999 39,493,345 RGD:9068941
G CD36 CD36 molecule JBrowse link 9 99,685,748 99,782,296 RGD:9068941
G CD46 CD46 molecule, complement regulatory protein JBrowse link 9 135,025,439 135,078,910 RGD:9068941
G CFB complement factor B JBrowse link 7 24,034,077 24,040,523 RGD:9068941
G CFH complement factor H RGD:9068941
G CFI complement factor I JBrowse link 8 112,430,824 112,470,844 RGD:9068941
G DGKE diacylglycerol kinase epsilon JBrowse link 12 33,141,439 33,172,412 RGD:9068941
G EPO erythropoietin JBrowse link 3 8,620,508 8,622,936 RGD:9068941
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 7 98,449,508 98,451,971 RGD:9068941
G HP haptoglobin JBrowse link 6 14,980,382 14,985,245 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 3 43,718,320 43,731,668 RGD:9068941
G IL1RN interleukin 1 receptor antagonist RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 14 97,103,926 97,107,635 RGD:9068941
G NQO1 NAD(P)H quinone dehydrogenase 1 JBrowse link 6 17,292,962 17,302,593 RGD:9068941
G PLA2G7 phospholipase A2 group VII JBrowse link 7 41,488,152 41,531,383 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 17 11,195,599 11,223,821 RGD:9068941
G THBD thrombomodulin JBrowse link 17 30,219,870 30,223,499 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
hemophilia B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP11C ATPase phospholipid transporting 11C JBrowse link X 114,394,436 114,575,658 RGD:9068941
G CXHXorf66 chromosome X CXorf66 homolog JBrowse link X 114,596,809 114,602,521 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 2 15,793,257 15,819,151 RGD:9068941
G F8 coagulation factor VIII JBrowse link X 125,265,330 125,350,853 RGD:9068941
G F9 coagulation factor IX JBrowse link X 114,218,704 114,250,436 RGD:7240710
RGD:9068941
G MCF2 MCF.2 cell line derived transforming sequence JBrowse link X 114,258,082 114,356,106 RGD:9068941
G SOX3 SRY-box transcription factor 3 JBrowse link X 115,017,704 115,020,601 RGD:9068941
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAM3 junctional adhesion molecule 3 JBrowse link 9 60,629,245 60,738,979 RGD:7240710
RGD:9068941
Henoch-Schoenlein purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 12 15,394,487 15,414,609 RGD:9068941
G AGT angiotensinogen JBrowse link 14 59,643,030 59,656,835 RGD:9068941
G C3 complement C3 JBrowse link 2 72,431,470 72,471,622 RGD:9068941
G CCL2 chemokine (C-C motif) ligand 2 JBrowse link 12 40,798,109 40,800,013 RGD:9068941
G CD86 CD86 molecule JBrowse link 13 138,427,573 138,504,307 RGD:9068941
G HMOX1 heme oxygenase 1 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 5 81,762,027 81,909,253 RGD:9068941
G IL1RN interleukin 1 receptor antagonist RGD:9068941
G IL5 interleukin 5 JBrowse link 2 134,832,143 134,846,141 RGD:9068941
G KNG1 kininogen 1 JBrowse link 13 124,521,276 124,557,384 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 3 38,934,573 38,948,609 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 17 11,195,599 11,223,821 RGD:9068941
G PLAU plasminogen activator, urokinase JBrowse link 14 76,629,313 76,635,173 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 9 74,943,646 74,974,720 RGD:9068941
Heparin-induced Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FCGR3A Fc fragment of IgG receptor IIIa JBrowse link 4 88,948,357 88,956,513 RGD:9068941
G IL10 interleukin 10 JBrowse link 9 67,400,727 67,405,941 RGD:9068941
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACVRL1 activin A receptor like type 1 JBrowse link 5 17,267,483 17,284,155 RGD:9068941
G ENG endoglin JBrowse link 1 268,309,379 268,343,861 RGD:9068941
G GDF2 growth differentiation factor 2 JBrowse link 14 88,506,083 88,513,416 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 1 100,521,843 100,633,501 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACVRL1 activin A receptor like type 1 JBrowse link 5 17,267,483 17,284,155 RGD:9068941
G ENG endoglin JBrowse link 1 268,309,379 268,343,861 RGD:7240710
RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 1 100,521,843 100,633,501 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACVRL1 activin A receptor like type 1 JBrowse link 5 17,267,483 17,284,155 RGD:7240710
RGD:9068941
G ENG endoglin JBrowse link 1 268,309,379 268,343,861 RGD:9068941
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF2 growth differentiation factor 2 JBrowse link 14 88,506,083 88,513,416 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 2 86,875,922 87,142,722 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 2 76,428,443 76,471,266 RGD:9068941
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 6 51,590,497 51,591,222 RGD:9068941
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 8 4,093,619 4,095,790 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 7 5,324,467 5,363,346 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 1 126,168,944 126,184,813 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 12 39,652,731 39,659,121 RGD:9068941
G CP ceruloplasmin JBrowse link 13 89,396,713 89,463,540 RGD:9068941
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 15 15,663,652 15,666,706 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 7 11,602,470 11,720,156 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 14 109,730,597 109,755,288 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 13 89,360,829 89,409,502 RGD:9068941
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 14 44,041,684 44,073,661 RGD:9068941
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 2 40,906,785 40,938,847 RGD:9068941
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 14 113,081,981 113,084,534 RGD:9068941
G KXD1 KxDL motif containing 1 JBrowse link 2 59,242,301 59,250,893 RGD:9068941
G RAB38 RAB38, member RAS oncogene family JBrowse link 9 21,577,083 21,640,637 RGD:9068941
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 7 75,021,716 75,028,229 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 8 88,608,083 88,690,589 RGD:9068941
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 6 51,578,906 51,589,496 RGD:9068941
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 14 30,469,003 30,496,626 RGD:9068941
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 2 76,428,443 76,471,266 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 7 11,602,470 11,720,156 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 14 109,730,597 109,755,288 RGD:7240710
RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 1 116,532,816 116,606,477 RGD:9068941
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 2 76,428,443 76,471,266 RGD:7240710
RGD:9068941
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 86,875,922 87,142,722 RGD:7240710
RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 2 76,428,443 76,471,266 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 13 89,396,713 89,463,540 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 13 89,360,829 89,409,502 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 14 44,041,684 44,073,661 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 2 40,906,785 40,938,847 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 14 113,081,981 113,084,534 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 7 11,602,470 11,720,156 RGD:7240710
RGD:9068941
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 6 51,590,497 51,591,222 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 1 126,168,944 126,184,813 RGD:7240710
RGD:9068941
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SALL4 spalt like transcription factor 4 JBrowse link 17 53,082,610 53,103,023 RGD:7240710
RGD:9068941
Jacobsen Distal 11q Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLI1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 9 55,612,905 55,749,784 RGD:9068941
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMAD3 SMAD family member 3 JBrowse link 1 164,998,457 165,124,455 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 1 100,521,843 100,633,501 RGD:7240710
RGD:9068941
Kaposiform Hemangioendothelioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF2 fibroblast growth factor 2 JBrowse link 8 101,278,877 101,344,084 RGD:9068941
G GNA14 G protein subunit alpha 14 JBrowse link 1 230,341,947 230,545,123 RGD:9068941
multiple myeloma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 JBrowse link 8 130,853,414 130,945,388 RGD:9068941
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 12 15,394,487 15,414,609 RGD:9068941
G ALB albumin JBrowse link 8 69,643,427 69,663,152 RGD:9068941
G APOE apolipoprotein E JBrowse link 6 51,373,113 51,375,333 RGD:9068941
G ARID4A AT-rich interaction domain 4A JBrowse link 1 187,385,324 187,452,558 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 9 36,620,656 36,759,555 RGD:9068941
G AURKA aurora kinase A JBrowse link 17 56,954,838 56,972,435 RGD:9068941
G B2M beta-2-microglobulin JBrowse link 1 126,837,721 126,844,043 RGD:9068941
G BAP1 BRCA1 associated protein 1 JBrowse link 13 34,544,570 34,553,538 RGD:9068941
G BARD1 BRCA1 associated RING domain 1 JBrowse link 15 117,049,483 117,135,889 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 1 158,337,403 158,518,214 RGD:9068941
G BCL2L1 BCL2 like 1 JBrowse link 17 35,366,139 35,415,798 RGD:9068941
G BCL2L10 BCL2 like 10 JBrowse link 1 119,594,004 119,607,709 RGD:9068941
G BCORL1 BCL6 corepressor like 1 JBrowse link X 106,547,754 106,613,130 RGD:9068941
G BNIP3 BCL2 interacting protein 3 JBrowse link 14 140,362,123 140,371,951 RGD:9068941
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 18 8,957,963 9,132,558 RGD:9068941
G BTG1 BTG anti-proliferation factor 1 JBrowse link 5 90,815,194 90,817,936 RGD:9068941
G CBL Cbl proto-oncogene JBrowse link 9 46,416,937 46,512,855 RGD:9068941
G CBX7 chromobox 7 JBrowse link 5 9,070,312 9,090,467 RGD:9068941
G CCL2 chemokine (C-C motif) ligand 2 JBrowse link 12 40,798,109 40,800,013 RGD:9068941
G CCND1 cyclin D1 JBrowse link 2 3,621,242 3,633,380 RGD:7240710
RGD:9068941
G CCND2 cyclin D2 JBrowse link 5 66,092,483 66,114,575 RGD:9068941
G CCND3 cyclin D3 JBrowse link 7 37,087,336 37,182,462 RGD:9068941
G CD40 CD40 molecule JBrowse link 17 48,286,116 48,298,188 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 111,778,666 111,788,901 RGD:9068941
G CD46 CD46 molecule, complement regulatory protein JBrowse link 9 135,025,439 135,078,910 RGD:9068941
G CD86 CD86 molecule JBrowse link 13 138,427,573 138,504,307 RGD:9068941
G CDK4 cyclin dependent kinase 4 JBrowse link 5 23,039,206 23,041,959 RGD:9068941
G CDKN2C cyclin dependent kinase inhibitor 2C JBrowse link 6 161,160,290 161,166,681 RGD:9068941
G CHI3L1 chitinase 3 like 1 JBrowse link 9 113,885,541 113,895,033 RGD:9068941
G CRBN cereblon JBrowse link 13 59,733,503 59,757,776 RGD:9068941
G CREBBP CREB binding protein JBrowse link 3 38,388,366 38,530,243 RGD:9068941
G CSF2 colony stimulating factor 2 JBrowse link 2 134,354,724 134,357,155 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 12 22,333,445 22,335,949 RGD:9068941
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 15 107,283,081 107,288,041 RGD:9068941
G CYLD CYLD lysine 63 deubiquitinase JBrowse link 6 34,058,091 34,121,939 RGD:9068941
G CYP1A1 cytochrome P450 1A1 JBrowse link 7 58,802,887 58,809,155 RGD:9068941
G CYP2C49 cytochrome P450 2C49 JBrowse link 14 106,571,803 106,612,082 RGD:9068941
G CYP2D25 vitamin D3 25-Hydroxylase JBrowse link 5 6,539,021 6,543,643 RGD:9068941
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 11 45,046,040 45,075,973 RGD:9068941
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 3 113,501,972 113,609,148 RGD:9068941
G EIF1AX eukaryotic translation initiation factor 1A X-linked JBrowse link X 16,429,625 16,449,581 RGD:9068941
G ENG endoglin JBrowse link 1 268,309,379 268,343,861 RGD:9068941
G EPHX1 epoxide hydrolase 1 JBrowse link 10 13,757,489 13,773,071 RGD:9068941
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 6 51,783,537 51,808,898 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 6 51,734,318 51,757,508 RGD:9068941
G ERF ETS2 repressor factor JBrowse link 6 49,678,858 49,686,422 RGD:9068941
G FASLG Fas ligand (TNF superfamily, member 6) JBrowse link 9 115,068,314 115,075,147 RGD:9068941
G FAT1 FAT atypical cadherin 1 JBrowse link 17 8,466,099 8,580,715 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 8 879,151 894,968 RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 8 74,553,040 74,562,151 RGD:9068941
G FLT3 fms related receptor tyrosine kinase 3 JBrowse link 11 5,370,475 5,455,439 RGD:9068941
G GPX1 glutathione peroxidase 1 JBrowse link 13 31,916,269 31,917,337 RGD:9068941
G HDAC4 histone deacetylase 4 JBrowse link 15 138,378,237 138,657,266 RGD:9068941
G HFE homeostatic iron regulator JBrowse link 7 20,758,604 20,767,004 RGD:9068941
G HK1 hexokinase 1 JBrowse link 14 72,383,328 72,460,927 RGD:9068941
G HRAS HRas proto-oncogene, GTPase JBrowse link 2 299,662 302,539 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 3 10,038,074 10,039,441 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 2 69,097,136 69,107,722 RGD:9068941
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 JBrowse link 15 111,341,153 111,362,330 RGD:9068941
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 7 55,654,298 55,675,571 RGD:9068941
G IGF2R insulin like growth factor 2 receptor JBrowse link 1 7,369,485 7,472,480 RGD:9068941
G IL10 interleukin 10 JBrowse link 9 67,400,727 67,405,941 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 3 43,718,320 43,731,668 RGD:9068941
G IL1RN interleukin 1 receptor antagonist RGD:9068941
G IL4R interleukin 4 receptor JBrowse link 3 19,526,343 19,576,792 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G IL7R interleukin 7 receptor JBrowse link 16 21,300,141 21,330,156 RGD:9068941
G IRF4 interferon regulatory factor 4 JBrowse link 7 133,358 149,609 RGD:9068941
G KDM5C lysine demethylase 5C JBrowse link X 45,968,812 46,003,215 RGD:9068941
G KMT2C lysine methyltransferase 2C JBrowse link 18 4,993,213 5,279,668 RGD:9068941
G KMT2D lysine methyltransferase 2D JBrowse link 5 15,049,827 15,091,622 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 5 48,508,774 48,546,260 RGD:9068941
G LATS1 large tumor suppressor kinase 1 JBrowse link 1 16,274,955 16,320,980 RGD:9068941
G LIG4 DNA ligase 4 JBrowse link 11 75,537,027 75,547,711 RGD:7240710
RGD:9068941
G LOC100511376 E3 SUMO-protein ligase RanBP2 JBrowse link 3 47,531,362 47,601,328 RGD:9068941
G LOC100739163 glutathione S-transferase P-like JBrowse link 2 4,978,761 4,982,233 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G LOC110261666 histone H2A type 1 JBrowse link 7 21,220,803 21,221,687 RGD:9068941
G LRRC56 leucine rich repeat containing 56 JBrowse link 2 303,836 323,701 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 6 8,468,736 8,910,012 RGD:9068941
G MCL1 MCL1 apoptosis regulator, BCL2 family member JBrowse link 4 98,562,092 98,567,014 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 3 38,934,573 38,948,609 RGD:9068941
G MET MET proto-oncogene, receptor tyrosine kinase JBrowse link 18 29,426,044 29,541,526 RGD:9068941
G MGA MAX dimerization protein MGA JBrowse link 1 129,590,645 129,697,434 RGD:9068941
G MIR19A microRNA mir-19a JBrowse link 11 60,734,939 60,735,020 RGD:9068941
G MIR92A-1 microRNA mir-92a-1 JBrowse link 11 60,735,358 60,735,437 RGD:9068941
G MST1R macrophage stimulating 1 receptor JBrowse link 13 32,401,623 32,423,614 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 14 54,546,978 54,652,780 RGD:9068941
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 16 74,245,214 74,270,828 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 4 94,626,317 94,631,194 RGD:9068941
G MYD88 MYD88 innate immune signal transduction adaptor JBrowse link 13 22,976,951 22,979,568 RGD:9068941
G NCOR2 nuclear receptor corepressor 2 JBrowse link 14 28,642,774 28,819,404 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 12 43,487,098 43,754,205 RGD:9068941
G NFKBIA NFKB inhibitor alpha JBrowse link 7 64,508,119 64,510,754 RGD:9068941
G NKX2-1 NK2 homeobox 1 JBrowse link 7 63,487,200 63,491,580 RGD:9068941
G NOTCH2 notch receptor 2 JBrowse link 4 100,951,522 101,152,348 RGD:9068941
G NQO1 NAD(P)H quinone dehydrogenase 1 JBrowse link 6 17,292,962 17,302,593 RGD:9068941
G NRAS NRAS proto-oncogene, GTPase JBrowse link 4 105,845,913 105,853,769 RGD:9068941
G NUAK1 NUAK family kinase 1 JBrowse link 5 14,089,584 14,177,584 RGD:9068941
G P14ARF p14ARF protein JBrowse link 1 200,774,496 200,799,149 RGD:9068941
G P2RY8 P2Y receptor family member 8 RGD:9068941
G PARP1 poly(ADP-ribose) polymerase 1 JBrowse link 10 14,203,157 14,241,164 RGD:9068941
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha JBrowse link 13 117,193,935 117,282,151 RGD:9068941
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 2 59,637,363 59,652,075 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 9 74,943,646 74,974,720 RGD:9068941
G PRAME preferentially expressed antigen in melanoma JBrowse link 14 48,901,097 48,906,855 RGD:9068941
G PSORS1C2 psoriasis susceptibility 1 candidate 2 JBrowse link 7 23,540,341 23,543,136 RGD:9068941
G PTHLH parathyroid hormone like hormone JBrowse link 5 45,750,968 45,763,421 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 14 39,202,165 39,292,041 RGD:9068941
G RECQL4 RecQ like helicase 4 JBrowse link 4 287,206 293,629 RGD:9068941
G RUNX1 RUNX family transcription factor 1 JBrowse link 13 198,371,835 198,635,648 RGD:9068941
G RXRA retinoid X receptor alpha JBrowse link 1 273,698,842 273,797,622 RGD:9068941
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 17 40,117,348 40,171,935 RGD:9068941
G SGK1 serum/glucocorticoid regulated kinase 1 JBrowse link 1 29,625,786 29,753,619 RGD:9068941
G SH2B3 SH2B adaptor protein 3 JBrowse link 14 32,623,286 32,664,606 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 7,679,352 7,689,564 RGD:9068941
G SPARC secreted protein acidic and cysteine rich JBrowse link 16 71,368,164 71,380,972 RGD:9068941
G SPP1 secreted phosphoprotein 1 JBrowse link 8 131,077,786 131,085,334 RGD:9068941
G TCF3 transcription factor 3 JBrowse link 2 76,859,079 76,906,275 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 16 79,258,591 79,276,421 RGD:9068941
G TET2 tet methylcytosine dioxygenase 2 JBrowse link 8 116,413,253 116,546,976 RGD:9068941
G TET3 tet methylcytosine dioxygenase 3 JBrowse link 3 68,918,896 69,020,406 RGD:9068941
G TFRC transferrin receptor JBrowse link 13 133,976,765 133,997,554 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
G TNFRSF13B TNF receptor superfamily member 13B JBrowse link 12 61,245,976 61,270,154 RGD:9068941
G TNFRSF17 TNF receptor superfamily member 17 JBrowse link 3 31,137,672 31,141,862 RGD:9068941
G TP53 tumor protein p53 JBrowse link 12 52,939,643 52,953,786 RGD:9068941
G TRNT1 tRNA nucleotidyl transferase 1 JBrowse link 13 59,647,835 59,736,054 RGD:9068941
G TYMS thymidylate synthetase JBrowse link 6 105,642,730 105,660,279 RGD:9068941
G ULK4 unc-51 like kinase 4 JBrowse link 13 25,207,890 25,751,465 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 7 38,746,393 38,762,282 RGD:9068941
G XPO5 exportin 5 JBrowse link 7 38,530,704 38,569,558 RGD:9068941
G XRCC4 X-ray repair cross complementing 4 JBrowse link 2 91,358,348 91,643,697 RGD:9068941
G XRCC5 X-ray repair cross complementing 5 JBrowse link 15 118,354,943 118,451,974 RGD:9068941
G YAP1 Yes1 associated transcriptional regulator JBrowse link 9 32,811,629 32,924,926 RGD:9068941
MYH-9 related disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH9 myosin heavy chain 9 JBrowse link 5 11,365,603 11,456,475 RGD:7240710
RGD:9068941
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA2B integrin subunit alpha 2b JBrowse link 12 18,860,739 18,877,381 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:9068941
occipital horn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP7A ATPase copper transporting alpha JBrowse link X 61,972,544 62,110,058 RGD:7240710
RGD:9068941
OI/EDS Combined Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 12 26,379,087 26,397,180 RGD:9068941
Phospholipase A2, Group IVA, Deficiency of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLA2G4A phospholipase A2 group IVA JBrowse link 9 127,853,581 128,164,825 RGD:7240710
RGD:9068941
plasma cell leukemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD40 CD40 molecule JBrowse link 17 48,286,116 48,298,188 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 16 79,258,591 79,276,421 RGD:9068941
Plasminogen Activator Inhibitor-1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP1S1 adaptor related protein complex 1 subunit sigma 1 JBrowse link 3 8,880,993 8,887,806 RGD:9068941
G LOC100624333 2-acylglycerol O-acyltransferase 2-A JBrowse link 3 8,907,154 8,909,152 RGD:9068941
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 JBrowse link 3 8,911,787 8,919,525 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 3 8,863,738 8,871,572 RGD:7240710
RGD:9068941
G TRIM56 tripartite motif containing 56 JBrowse link 3 8,834,260 8,842,524 RGD:9068941
G VGF VGF nerve growth factor inducible JBrowse link 3 8,888,502 8,891,399 RGD:9068941
Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARPC1B actin related protein 2/3 complex subunit 1B JBrowse link 3 6,329,737 6,342,641 RGD:7240710
RGD:9068941
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 86,875,922 87,142,722 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 2 76,428,443 76,471,266 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 7 5,324,467 5,363,346 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 1 126,168,944 126,184,813 RGD:9068941
G DOCK7 dedicator of cytokinesis 7 JBrowse link 6 149,745,375 149,971,853 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 7 11,602,470 11,720,156 RGD:9068941
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 1 272,701,386 272,715,551 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 14 109,730,597 109,755,288 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 13 89,360,829 89,409,502 RGD:9068941
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 14 44,041,684 44,073,661 RGD:9068941
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 2 40,906,785 40,938,847 RGD:9068941
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 14 113,081,981 113,084,534 RGD:9068941
G LYST lysosomal trafficking regulator JBrowse link 14 55,433,163 55,634,011 RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 1 116,532,816 116,606,477 RGD:9068941
G RAB27B RAB27B, member RAS oncogene family JBrowse link 1 104,241,500 104,418,721 RGD:9068941
G RUNX1 RUNX family transcription factor 1 JBrowse link 13 198,371,835 198,635,648 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 8 88,608,083 88,690,589 RGD:9068941
platelet-type bleeding disorder 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD36 CD36 molecule JBrowse link 9 99,685,748 99,782,296 RGD:7240710
RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 3 8,863,738 8,871,572 RGD:9068941
platelet-type bleeding disorder 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP6 glycoprotein VI platelet JBrowse link 6 59,214,227 59,237,860 RGD:7240710
RGD:9068941
Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBXA2R thromboxane A2 receptor JBrowse link 2 75,068,413 75,081,305 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBXAS1 thromboxane A synthase 1 JBrowse link 18 9,717,291 9,886,699 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTN1 actinin alpha 1 JBrowse link 7 92,550,132 92,644,842 RGD:7240710
RGD:9068941
G FLI1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 9 55,612,905 55,749,784 RGD:9068941
platelet-type bleeding disorder 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA2B integrin subunit alpha 2b JBrowse link 12 18,860,739 18,877,381 RGD:7240710
RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 1 272,701,386 272,715,551 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RASGRP2 RAS guanyl releasing protein 2 JBrowse link 2 7,424,805 7,440,404 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLFN14 schlafen family member 14 JBrowse link 12 39,947,791 39,962,823 RGD:7240710
RGD:9068941
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 9 55,612,905 55,749,784 RGD:7240710
RGD:9068941
Platelet-Type Bleeding Disorder 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPHB2 EPH receptor B2 JBrowse link 6 80,649,098 80,849,979 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MED12L mediator complex subunit 12L JBrowse link 13 91,271,588 91,625,867 RGD:9068941
G P2RY12 purinergic receptor P2Y12 JBrowse link 13 91,522,754 91,572,195 RGD:7240710
RGD:9068941
platelet-type bleeding disorder 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA2 integrin subunit alpha 2 JBrowse link 16 32,336,240 32,440,311 RGD:7240710
RGD:9068941
G MOCS2 molybdenum cofactor synthesis 2 JBrowse link 16 32,427,783 32,462,362 RGD:9068941
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL3A1 collagen type III alpha 1 chain JBrowse link 15 93,556,914 93,595,678 RGD:7240710
RGD:9068941
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:7240710
RGD:9068941
prothrombin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II, thrombin JBrowse link 2 15,793,257 15,819,151 RGD:9068941
G F7 coagulation factor VII JBrowse link 11 78,512,389 78,518,668 RGD:9068941
Prothrombin Deficiency, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II, thrombin JBrowse link 2 15,793,257 15,819,151 RGD:7240710
RGD:9068941
pseudoxanthoma elasticum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC1 ATP binding cassette subfamily C member 1 JBrowse link 3 28,360,868 28,472,940 RGD:9068941
G ABCC6 ATP binding cassette subfamily C member 6 JBrowse link 3 28,260,935 28,356,706 RGD:7240710
RGD:9068941
G CAT catalase JBrowse link 2 26,493,664 26,533,881 RGD:9068941
G CEP20 centrosomal protein 20 JBrowse link 3 6,977,195 6,996,024 RGD:9068941
G ELN elastin JBrowse link 3 11,214,194 11,245,891 RGD:9068941
G GPX1 glutathione peroxidase 1 JBrowse link 13 31,916,269 31,917,337 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 6 30,059,247 30,087,031 RGD:9068941
G MYH11 myosin heavy chain 11 JBrowse link 3 7,002,667 7,143,093 RGD:9068941
G NDE1 nudE neurodevelopment protein 1 JBrowse link 3 7,145,094 7,174,691 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 7,679,352 7,689,564 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 7 38,746,393 38,762,282 RGD:9068941
G XYLT1 xylosyltransferase 1 JBrowse link 3 27,158,438 27,492,629 RGD:7240710
RGD:9068941
G XYLT2 xylosyltransferase 2 JBrowse link 12 26,640,802 26,656,809 RGD:7240710
RGD:9068941
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GGCX gamma-glutamyl carboxylase JBrowse link 3 59,202,363 59,219,807 RGD:7240710
RGD:9068941
purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL13 interleukin 13 JBrowse link 2 134,972,099 134,976,672 RGD:9068941
purpura fulminans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PROC protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 15 25,043,543 25,054,310 RGD:9068941
Quebec platelet disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLAU plasminogen activator, urokinase JBrowse link 14 76,629,313 76,635,173 RGD:7240710
RGD:9068941
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA11 homeobox A11 JBrowse link 18 45,388,523 45,392,190 RGD:9068941
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA11 homeobox A11 JBrowse link 18 45,388,523 45,392,190 RGD:7240710
RGD:9068941
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MECOM MDS1 and EVI1 complex locus JBrowse link 13 107,753,207 108,336,136 RGD:7240710
RGD:9068941
Shwartzman phenomenon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL10 interleukin 10 JBrowse link 9 67,400,727 67,405,941 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC39A13 solute carrier family 39 member 13 JBrowse link 2 15,194,028 15,202,936 RGD:7240710
RGD:9068941
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STIM1 stromal interaction molecule 1 JBrowse link 9 6,066,612 6,270,090 RGD:7240710
RGD:9068941
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MACF1 microtubule actin crosslinking factor 1 JBrowse link 6 94,960,385 95,318,126 RGD:9068941
Takenouchi-Kosaki Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDC42 cell division cycle 42 JBrowse link 6 80,035,034 80,089,243 RGD:7240710
RGD:9068941
Thrombocythemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 6 167,896,191 167,908,988 RGD:7240710
RGD:9068941
Thrombocythemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INSL6 insulin like 6 JBrowse link 1 216,792,785 216,820,197 RGD:9068941
G JAK2 Janus kinase 2 JBrowse link 1 216,849,744 217,002,310 RGD:7240710
RGD:9068941
thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCG5 ATP binding cassette subfamily G member 5 JBrowse link 3 96,616,304 96,656,893 RGD:9068941
G ABCG8 ATP binding cassette subfamily G member 8 JBrowse link 3 96,596,975 96,616,224 RGD:9068941
G ACBD5 acyl-CoA binding domain containing 5 JBrowse link 10 48,883,116 48,922,377 RGD:9068941
G ACTN1 actinin alpha 1 JBrowse link 7 92,550,132 92,644,842 RGD:9068941
G ALB albumin JBrowse link 8 69,643,427 69,663,152 RGD:9068941
G ASPG asparaginase RGD:9068941
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 12 36,498,138 36,639,847 RGD:9068941
G CCL2 chemokine (C-C motif) ligand 2 JBrowse link 12 40,798,109 40,800,013 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 111,778,666 111,788,901 RGD:9068941
G CHEK2 checkpoint kinase 2 JBrowse link 14 45,699,833 45,967,350 RGD:9068941
G COL4A4 collagen type IV alpha 4 chain JBrowse link 15 128,472,228 128,612,302 RGD:9068941
G CSF2 colony stimulating factor 2 JBrowse link 2 134,354,724 134,357,155 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 12 22,333,445 22,335,949 RGD:9068941
G CYCS cytochrome c, somatic JBrowse link 18 47,169,921 47,172,212 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 3 96,656,099 96,703,282 RGD:9068941
G EPO erythropoietin JBrowse link 3 8,620,508 8,622,936 RGD:9068941
G ETV6 ETS variant transcription factor 6 JBrowse link 5 60,523,530 60,776,792 RGD:9068941
G F7 coagulation factor VII JBrowse link 11 78,512,389 78,518,668 RGD:9068941
G FGA fibrinogen alpha chain JBrowse link 8 74,574,870 74,584,202 RGD:9068941
G FLI1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 9 55,612,905 55,749,784 RGD:9068941
G FYB1 FYN binding protein 1 JBrowse link 16 24,332,539 24,507,768 RGD:9068941
G GATA1 GATA binding protein 1 JBrowse link X 42,898,431 42,905,939 RGD:9068941
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 1 272,701,386 272,715,551 RGD:9068941
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 1 236,998,754 237,065,819 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:9068941
G GP1BB glycoprotein Ib platelet subunit beta JBrowse link 14 51,261,097 51,261,903 RGD:9068941
G GP9 glycoprotein IX platelet JBrowse link 13 71,558,768 71,565,134 RGD:9068941
G IL10 interleukin 10 JBrowse link 9 67,400,727 67,405,941 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G ITGA2 integrin subunit alpha 2 JBrowse link 16 32,336,240 32,440,311 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 12 18,860,739 18,877,381 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:9068941
G ITPA inosine triphosphatase JBrowse link 17 32,458,351 32,474,827 RGD:9068941
G LOC100516390 ankyrin repeat domain-containing protein 26 JBrowse link 10 48,694,806 48,795,783 RGD:9068941
G LOC100524373 platelet factor 4 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G MASTL microtubule associated serine/threonine kinase like JBrowse link 10 48,855,895 48,877,504 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 14 97,103,926 97,107,635 RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 6 167,896,191 167,908,988 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 5 11,365,603 11,456,475 RGD:9068941
G P2RY12 purinergic receptor P2Y12 JBrowse link 13 91,522,754 91,572,195 RGD:9068941
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 12 14,667,643 14,723,296 RGD:9068941
G RUNX1 RUNX family transcription factor 1 JBrowse link 13 198,371,835 198,635,648 RGD:9068941
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 12 18,957,813 18,975,266 RGD:9068941
G SPARC secreted protein acidic and cysteine rich JBrowse link 16 71,368,164 71,380,972 RGD:9068941
G TBXA2R thromboxane A2 receptor JBrowse link 2 75,068,413 75,081,305 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
G TUBB1 tubulin beta 1 class VI JBrowse link 17 59,161,420 59,168,385 RGD:9068941
G WAS WASP actin nucleation promoting factor JBrowse link X 42,774,597 42,793,055 RGD:9068941
G WDR1 WD repeat domain 1 JBrowse link 8 6,413,338 6,452,383 RGD:9068941
G XDH xanthine dehydrogenase JBrowse link 3 107,987,060 108,052,043 RGD:9068941
G YME1L1 YME1 like 1 ATPase JBrowse link 10 48,807,654 48,855,228 RGD:9068941
Thrombocytopenia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA1 GATA binding protein 1 JBrowse link X 42,898,431 42,905,939 RGD:9068941
G WAS WASP actin nucleation promoting factor JBrowse link X 42,774,597 42,793,055 RGD:7240710
RGD:9068941
Thrombocytopenia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100516390 ankyrin repeat domain-containing protein 26 JBrowse link 10 48,694,806 48,795,783 RGD:7240710
RGD:9068941
G MASTL microtubule associated serine/threonine kinase like JBrowse link 10 48,855,895 48,877,504 RGD:9068941
Thrombocytopenia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FYB1 FYN binding protein 1 JBrowse link 16 24,332,539 24,507,768 RGD:7240710
RGD:9068941
Thrombocytopenia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYCS cytochrome c, somatic JBrowse link 18 47,169,921 47,172,212 RGD:7240710
RGD:9068941
THROMBOCYTOPENIA 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ETV6 ETS variant transcription factor 6 JBrowse link 5 60,523,530 60,776,792 RGD:7240710
RGD:9068941
THROMBOCYTOPENIA 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SRC SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 17 40,470,970 40,524,862 RGD:7240710
RGD:9068941
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 4 88,948,357 88,956,513 RGD:9068941
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPIG6B megakaryocyte and platelet inhibitory receptor G6b JBrowse link 7 23,834,650 23,836,784 RGD:7240710
RGD:9068941
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 42,898,431 42,905,939 RGD:7240710
RGD:9068941
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD34A ankyrin repeat domain 34A JBrowse link 4 99,377,555 99,382,322 RGD:9068941
G ANKRD35 ankyrin repeat domain 35 JBrowse link 4 99,441,264 99,460,877 RGD:9068941
G HJV hemojuvelin BMP co-receptor JBrowse link 4 99,327,989 99,332,647 RGD:9068941
G ITGA10 integrin subunit alpha 10 JBrowse link 4 99,422,469 99,440,756 RGD:9068941
G LIX1L limb and CNS expressed 1 like JBrowse link 4 99,384,293 99,403,554 RGD:9068941
G NUDT17 nudix hydrolase 17 JBrowse link 4 99,472,347 99,477,953 RGD:9068941
G PEX11B peroxisomal biogenesis factor 11 beta JBrowse link 4 99,415,403 99,422,324 RGD:9068941
G PIAS3 protein inhibitor of activated STAT 3 JBrowse link 4 99,463,418 99,475,141 RGD:9068941
G POLR3C RNA polymerase III subunit C JBrowse link 4 99,480,213 99,494,137 RGD:9068941
G POLR3GL RNA polymerase III subunit G like JBrowse link 4 99,362,945 99,380,299 RGD:9068941
G RBM8A RNA binding motif protein 8A JBrowse link 4 99,408,422 99,411,964 RGD:7240710
RGD:9068941
G TXNIP thioredoxin interacting protein JBrowse link 4 99,348,589 99,351,760 RGD:9068941
Thrombocytopenic Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GP9 glycoprotein IX platelet JBrowse link 13 71,558,768 71,565,134 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 12 18,860,739 18,877,381 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:9068941
thrombocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CALR calreticulin JBrowse link 2 66,098,263 66,102,074 RGD:9068941
G CPB2 carboxypeptidase B2 JBrowse link 11 21,234,447 21,298,250 RGD:9068941
G EPOR erythropoietin receptor JBrowse link 2 70,063,601 70,068,821 RGD:9068941
G JAK2 Janus kinase 2 JBrowse link 1 216,849,744 217,002,310 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 6 167,896,191 167,908,988 RGD:9068941
G THPO thrombopoietin JBrowse link 13 122,259,654 122,267,860 RGD:9068941
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPL MPL proto-oncogene, thrombopoietin receptor JBrowse link 6 167,896,191 167,908,988 RGD:9068941
Thrombotic Microangiopathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link 1 273,022,014 273,066,916 RGD:9068941
G C3 complement C3 JBrowse link 2 72,431,470 72,471,622 RGD:9068941
G CFH complement factor H RGD:9068941
G CFI complement factor I JBrowse link 8 112,430,824 112,470,844 RGD:9068941
G CPB2 carboxypeptidase B2 JBrowse link 11 21,234,447 21,298,250 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link 4 122,827,018 122,837,673 RGD:9068941
G FGG fibrinogen gamma chain JBrowse link 8 74,553,040 74,562,151 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 12 44,174,944 44,219,875 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 18 6,209,218 6,228,912 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 7 38,746,393 38,762,282 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:9068941
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 1 273,022,014 273,066,916 RGD:7240710
RGD:9068941
G CD36 CD36 molecule JBrowse link 9 99,685,748 99,782,296 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link 4 122,827,018 122,837,673 RGD:9068941
G PROC protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 15 25,043,543 25,054,310 RGD:9068941
G TFPI tissue factor pathway inhibitor JBrowse link 15 92,345,083 92,409,962 RGD:9068941
G THBD thrombomodulin JBrowse link 17 30,219,870 30,223,499 RGD:9068941
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 1 273,022,014 273,066,916 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:9068941
type I Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase JBrowse link 1 272,912,239 272,935,316 RGD:9068941
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 JBrowse link 1 273,022,014 273,066,916 RGD:9068941
G ADAMTSL2 ADAMTS like 2 JBrowse link 1 273,119,826 273,155,412 RGD:9068941
G AK8 adenylate kinase 8 JBrowse link 1 272,497,661 272,625,668 RGD:9068941
G BARHL1 BarH like homeobox 1 JBrowse link 1 272,373,125 272,380,223 RGD:9068941
G CACFD1 calcium channel flower domain containing 1 JBrowse link 1 273,045,620 273,066,916 RGD:9068941
G CEL carboxyl ester lipase JBrowse link 1 272,763,203 272,770,259 RGD:9068941
G CFAP77 cilia and flagella associated protein 77 JBrowse link 1 272,216,581 272,362,321 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 12 26,379,087 26,397,180 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 9 74,174,484 74,210,407 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 1 273,934,219 274,083,264 RGD:7240710
RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 15 93,611,856 93,981,131 RGD:9068941
G CUNH9orf116 chromosome unknown C9orf116 homolog RGD:9068941
G DBH dopamine beta-hydroxylase JBrowse link 1 273,204,407 273,225,562 RGD:9068941
G DDX31 DEAD-box helicase 31 JBrowse link 1 272,383,585 272,454,395 RGD:9068941
G FAM163B family with sequence similarity 163 member B JBrowse link 1 273,156,749 273,186,756 RGD:9068941
G FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) JBrowse link 1 274,106,276 274,111,970 RGD:9068941
G FLNA filamin A JBrowse link X 124,889,934 124,915,000 RGD:9068941
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) JBrowse link 1 272,827,930 272,836,460 RGD:9068941
G GFI1B growth factor independent 1B transcriptional repressor JBrowse link 1 272,701,386 272,715,551 RGD:9068941
G GLT6D1 glycosyltransferase 6 domain containing 1 RGD:9068941
G GTF3C4 general transcription factor IIIC subunit 4 JBrowse link 1 272,454,488 272,479,968 RGD:9068941
G GTF3C5 general transcription factor IIIC subunit 5 JBrowse link 1 272,743,527 272,760,055 RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 RGD:9068941
G LCN9 lipocalin 9 RGD:9068941
G LOC110256505 surfeit locus protein 1 JBrowse link 1 272,965,637 272,970,516 RGD:9068941
G LUM lumican JBrowse link 5 91,748,871 91,756,381 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 57,150,884 57,174,367 RGD:9068941
G MED22 mediator complex subunit 22 JBrowse link 1 272,956,119 272,961,618 RGD:9068941
G MED27 mediator complex subunit 27 JBrowse link 1 271,724,910 271,928,367 RGD:9068941
G MRPS2 mitochondrial ribosomal protein S2 RGD:9068941
G MYH11 myosin heavy chain 11 JBrowse link 3 7,002,667 7,143,093 RGD:9068941
G MYMK myomaker, myoblast fusion factor JBrowse link 1 273,101,674 273,111,721 RGD:9068941
G NTNG2 netrin G2 JBrowse link 1 272,007,513 272,077,105 RGD:9068941
G OBP2B odorant binding protein 2B JBrowse link 1 272,886,871 272,890,537 RGD:9068941
G OLFM1 olfactomedin 1 JBrowse link 1 274,236,241 274,261,322 RGD:9068941
G PAEP progestagen associated endometrial protein RGD:9068941
G POMT1 protein O-mannosyltransferase 1 JBrowse link 1 271,432,196 271,448,584 RGD:9068941
G PPP1R26 protein phosphatase 1 regulatory subunit 26 RGD:9068941
G RALGDS ral guanine nucleotide dissociation stimulator JBrowse link 1 272,776,844 272,824,179 RGD:9068941
G RAPGEF1 Rap guanine nucleotide exchange factor 1 JBrowse link 1 271,494,243 271,624,609 RGD:9068941
G REXO4 REX4 homolog, 3'-5' exonuclease JBrowse link 1 273,011,736 273,021,956 RGD:9068941
G RPL7A ribosomal protein L7a JBrowse link 1 272,961,421 272,965,636 RGD:9068941
G RXRA retinoid X receptor alpha JBrowse link 1 273,698,842 273,797,622 RGD:9068941
G SARDH sarcosine dehydrogenase JBrowse link 1 273,230,357 273,295,170 RGD:9068941
G SETX senataxin JBrowse link 1 272,093,449 272,170,857 RGD:9068941
G SLC2A10 solute carrier family 2 member 10 JBrowse link 17 48,824,054 48,842,811 RGD:9068941
G SLC2A6 solute carrier family 2 member 6 JBrowse link 1 273,063,261 273,075,455 RGD:9068941
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 RGD:9068941
G SPACA9 sperm acrosome associated 9 JBrowse link 1 272,625,701 272,635,406 RGD:9068941
G STKLD1 serine/threonine kinase like domain containing 1 JBrowse link 1 272,988,767 273,012,007 RGD:9068941
G SURF2 surfeit 2 JBrowse link 1 272,970,522 272,976,188 RGD:9068941
G SURF4 surfeit 4 JBrowse link 1 272,975,164 272,988,683 RGD:9068941
G SURF6 surfeit 6 JBrowse link 1 272,949,236 272,955,674 RGD:9068941
G TGFBR1 transforming growth factor beta receptor 1 JBrowse link 1 240,842,735 240,918,267 RGD:9068941
G TSC1 TSC complex subunit 1 JBrowse link 1 272,636,530 272,685,948 RGD:9068941
G TTF1 transcription termination factor 1 JBrowse link 1 272,180,488 272,212,504 RGD:9068941
G UCK1 uridine-cytidine kinase 1 JBrowse link 1 271,448,362 271,453,811 RGD:9068941
G VAV2 vav guanine nucleotide exchange factor 2 JBrowse link 1 273,303,142 273,476,250 RGD:9068941
G WDR5 WD repeat domain 5 JBrowse link 1 273,560,274 273,577,827 RGD:9068941
type II Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 12 26,379,087 26,397,180 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 9 74,174,484 74,210,407 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 1 273,934,219 274,083,264 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 15 93,611,856 93,981,131 RGD:7240710
RGD:9068941
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 15 93,556,914 93,595,678 RGD:9068941
G NOTCH1 notch receptor 1 RGD:9068941
G TNXB tenascin XB JBrowse link 7 24,088,873 24,155,815 RGD:9068941
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 4 93,807,703 93,808,806 RGD:9068941
G GGCX gamma-glutamyl carboxylase JBrowse link 3 59,202,363 59,219,807 RGD:9068941
von Willebrand's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F3 coagulation factor III, tissue factor JBrowse link 4 122,827,018 122,837,673 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:9068941
von Willebrand's disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA2 integrin subunit alpha 2 JBrowse link 16 32,336,240 32,440,311 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 12 18,860,739 18,877,381 RGD:9068941
G PLAT plasminogen activator, tissue type JBrowse link 17 11,195,599 11,223,821 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:7240710
RGD:9068941
von Willebrand's disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link X 125,265,330 125,350,853 RGD:9068941
G ITGA2 integrin subunit alpha 2 JBrowse link 16 32,336,240 32,440,311 RGD:9068941
G ITGA2B integrin subunit alpha 2b JBrowse link 12 18,860,739 18,877,381 RGD:9068941
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:7240710
RGD:9068941
von Willebrand's disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VWF von Willebrand factor JBrowse link 5 64,516,627 64,655,938 RGD:7240710
RGD:9068941
RGD:12801476
Waldenstroem's macroglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 15 15,663,652 15,666,706 RGD:9068941
G FCGR3A Fc fragment of IgG receptor IIIa JBrowse link 4 88,948,357 88,956,513 RGD:9068941
G IL10 interleukin 10 JBrowse link 9 67,400,727 67,405,941 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G IRF4 interferon regulatory factor 4 JBrowse link 7 133,358 149,609 RGD:9068941
G MYD88 MYD88 innate immune signal transduction adaptor JBrowse link 13 22,976,951 22,979,568 RGD:7240710
RGD:9068941
Wiskott-Aldrich syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXP3 forkhead box P3 JBrowse link X 43,303,777 43,328,164 RGD:9068941
G WAS WASP actin nucleation promoting factor JBrowse link X 42,774,597 42,793,055 RGD:7240710
RGD:9068941
G WIPF1 WAS/WASL interacting protein family member 1 JBrowse link 15 80,521,032 80,646,462 RGD:9068941
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WIPF1 WAS/WASL interacting protein family member 1 JBrowse link 15 80,521,032 80,646,462 RGD:7240710
RGD:9068941
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA1 GATA binding protein 1 JBrowse link X 42,898,431 42,905,939 RGD:7240710
RGD:9068941
X-Linked Thrombocytopenia, Intermittent term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WAS WASP actin nucleation promoting factor JBrowse link X 42,774,597 42,793,055 RGD:9068941
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA1 GATA binding protein 1 JBrowse link X 42,898,431 42,905,939 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12020
    disease of anatomical entity 11677
      hematopoietic system disease 1340
        hemorrhagic disease 460
          Bernard-Soulier syndrome + 4
          Familial Hemorrhagic Diathesis due to Antithrombin 0
          Glanzmann's thrombasthenia + 4
          Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
          Plasminogen Activator Inhibitor-1 Deficiency 6
          Waterhouse-Friderichsen syndrome + 0
          Wiskott-Aldrich syndrome + 3
          alpha-2-plasmin inhibitor deficiency 1
          blood platelet disease + 176
          congenital afibrinogenemia + 5
          disseminated intravascular coagulation + 17
          essential thrombocythemia 21
          factor V deficiency + 5
          factor VII deficiency 2
          factor VIII deficiency + 18
          factor X deficiency 3
          factor XI deficiency 1
          factor XII deficiency 2
          factor XIII deficiency + 3
          hemophilia B 7
          platelet storage pool deficiency + 27
          prothrombin deficiency + 2
          purpura + 46
          vascular hemostatic disease + 258
          vitamin K deficiency bleeding 2
          von Willebrand's disease + 7
Path 2
Term Annotations click to browse term
  disease 12020
    disease of anatomical entity 11677
      Hemic and Lymphatic Diseases 1595
        hematopoietic system disease 1340
          blood coagulation disease 470
            hemorrhagic disease 460
              Bernard-Soulier syndrome + 4
              Familial Hemorrhagic Diathesis due to Antithrombin 0
              Glanzmann's thrombasthenia + 4
              Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
              Plasminogen Activator Inhibitor-1 Deficiency 6
              Waterhouse-Friderichsen syndrome + 0
              Wiskott-Aldrich syndrome + 3
              alpha-2-plasmin inhibitor deficiency 1
              blood platelet disease + 176
              congenital afibrinogenemia + 5
              disseminated intravascular coagulation + 17
              essential thrombocythemia 21
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 18
              factor X deficiency 3
              factor XI deficiency 1
              factor XII deficiency 2
              factor XIII deficiency + 3
              hemophilia B 7
              platelet storage pool deficiency + 27
              prothrombin deficiency + 2
              purpura + 46
              vascular hemostatic disease + 258
              vitamin K deficiency bleeding 2
              von Willebrand's disease + 7
paths to the root

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