ONTOLOGY REPORT - ANNOTATIONS


Term:vascular hemostatic disease
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Accession:DOID:484 term browser browse the term
Definition:Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS.
Synonyms:exact_synonym: Hemostatic Disorder;   Hemostatic Disorders;   Vascular Hemostatic Disorder;   Vascular Hemostatic Disorders
 primary_id: MESH:D020141;   RDO:0005300
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
RGD:8554872
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
cavernous hemangioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:8554872
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
cerebral cavernous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:11554173
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:1358458
RGD:7240710
RGD:8554872
RGD:1598379
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552573
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859036
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:8554872
cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
RGD:7240710
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
cryoglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354974
G Ifnl3 interferon, lambda 3 JBrowse link 1 85,236,243 85,237,775 RGD:11528546
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:11060121
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450529
G Tslp thymic stromal lymphopoietin JBrowse link 18 25,613,601 25,618,066 RGD:13592920
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:1599433
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11571617
RGD:13592920
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:1581198
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:1300381
RGD:8554872
RGD:11554173
RGD:11041602
RGD:11041599
RGD:7257554
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:1581210
RGD:8554872
RGD:1581211
RGD:1581212
RGD:734808
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:734809
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:13592920
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:13592920
RGD:8554872
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:11553861
RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073604
G Tnxb tenascin XB RGD:1599494
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnxb tenascin XB RGD:7240710
RGD:8554872
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:11554173
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:8554872
G Wdr75 WD repeat domain 75 JBrowse link 9 52,687,845 52,717,808 RGD:8554872
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:7240710
RGD:8554872
RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
RGD:7240710
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
Ehlers-Danlos Syndrome, Cardiac Valvular Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
RGD:11554173
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp1 AE binding protein 1 JBrowse link 14 86,101,253 86,111,323 RGD:8554872
RGD:7240710
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome, Progeroid Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:734803
RGD:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 JBrowse link 10 36,098,051 36,304,416 RGD:7240710
RGD:8554872
RGD:1598738
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11039024
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11344956
Henoch-Schoenlein purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11038920
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11039045
RGD:11039055
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11522500
RGD:11528567
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354986
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755701
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10755701
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6909151
G Il5 interleukin 5 JBrowse link 10 39,066,716 39,069,587 RGD:11354946
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:11059888
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:7349346
RGD:11531116
RGD:7349347
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11541055
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552576
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147830
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:1300352
RGD:8554872
RGD:11554173
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:1601038
RGD:8554872
RGD:11035216
RGD:11554173
RGD:11041566
RGD:11041563
RGD:11041183
RGD:11041169
RGD:1300352
G Gdf2 growth differentiation factor 2 JBrowse link 16 10,267,510 10,293,545 RGD:11554173
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11035218
RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450733
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
RGD:7240710
RGD:11041166
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11041166
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:7240710
RGD:8554872
RGD:11035216
RGD:11035214
RGD:11035213
RGD:10769364
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf2 growth differentiation factor 2 JBrowse link 16 10,267,510 10,293,545 RGD:7240710
RGD:8554872
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:11062720
RGD:11070199
multiple myeloma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 JBrowse link 4 88,765,441 88,890,268 RGD:11081075
RGD:11081144
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11038914
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11035276
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11040544
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:8554872
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11554173
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:11353847
RGD:11554173
G Bcl2l10 BCL2 like 10 JBrowse link 8 82,288,705 82,294,750 RGD:14392808
G Bnip3 BCL2 interacting protein 3 JBrowse link 1 211,248,098 211,265,282 RGD:11554173
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Btg1 BTG anti-proliferation factor 1 JBrowse link 7 37,812,831 37,815,088 RGD:11554173
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11038794
G Cbx7 chromobox 7 JBrowse link 7 121,136,067 121,153,503 RGD:11352716
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11554173
G Ccnd1 cyclin D1 JBrowse link 1 218,090,750 218,100,447 RGD:1581171
RGD:8554872
RGD:11554173
RGD:11353784
RGD:7240710
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:1581171
G Ccnd3 cyclin D3 JBrowse link 9 15,404,816 15,410,905 RGD:1581171
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:11522720
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352240
RGD:11352268
RGD:11352251
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:11352814
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354971
RGD:11554173
G Cdk4 cyclin-dependent kinase 4 JBrowse link 7 70,345,971 70,352,689 RGD:8554872
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:11252185
RGD:11554173
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:11040544
G Chi3l1 chitinase 3 like 1 JBrowse link 13 51,022,844 51,030,797 RGD:4892645
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:11554173
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:11352247
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11352726
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 JBrowse link 1 147,713,879 147,814,410 RGD:11352748
RGD:11352804
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 JBrowse link 7 123,599,264 123,608,436 RGD:11352804
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11041181
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:11252116
RGD:11554173
RGD:11252122
RGD:11252121
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:10450871
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:11252199
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:11049149
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040778
RGD:11040938
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11554173
RGD:8554872
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:11040544
G Flt3lg fms-related tyrosine kinase 3 ligand JBrowse link 1 101,126,006 101,131,413 RGD:11075232
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352777
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450826
RGD:10450846
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:10755413
RGD:11075094
RGD:10755419
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450846
RGD:11554173
RGD:10450847
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:8694350
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:11353882
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:11554173
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:11354981
RGD:11520780
G Idh1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic JBrowse link 9 71,882,108 71,911,645 RGD:8554872
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:8554872
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11041888
RGD:11049458
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11049156
RGD:11059513
RGD:11051973
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11051973
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:11051973
RGD:11522764
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11040938
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Irf4 interferon regulatory factor 4 JBrowse link 17 34,886,746 34,905,191 RGD:11526161
RGD:11554173
RGD:11530055
RGD:11530019
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1581756
RGD:8554872
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:1600305
RGD:8554872
RGD:7240710
G LOC100364500 RT1 class I, locus CE11-like JBrowse link 20 2,704,153 2,707,111 RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:13592920
G Mcl1 MCL1 apoptosis regulator, BCL2 family member JBrowse link 2 197,786,212 197,788,992 RGD:11554173
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:11531123
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:2317526
G Mir19a microRNA 19a JBrowse link 15 100,180,162 100,180,243 RGD:11554173
G Mir92a1 microRNA 92a-1 JBrowse link 15 100,180,586 100,180,663 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449397
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11075095
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11075095
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:11554173
G Myd88 MYD88, innate immune signal transduction adaptor JBrowse link 8 128,022,512 128,027,462 RGD:8554872
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:2298898
RGD:2298895
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:1580763
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:10769348
RGD:11554173
RGD:10755419
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:11535049
RGD:8554872
G Nuak1 NUAK family kinase 1 JBrowse link 7 25,039,336 25,111,118 RGD:11554173
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552578
RGD:10450846
RGD:11040544
G Prame preferentially expressed antigen in melanoma JBrowse link X 106,082,984 106,091,256 RGD:11535030
RGD:11554173
G Psors1c2 psoriasis susceptibility 1 candidate 2 JBrowse link 20 3,727,817 3,728,805 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:9835349
G Runx1 runt-related transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:6482834
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:1581238
RGD:11554173
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:11554173
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:1581367
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038665
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062101
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073605
RGD:11073614
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449450
RGD:10449453
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b JBrowse link 15 51,433,853 51,464,215 RGD:11038719
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:11554173
G Tnfrsf17 TNF receptor superfamily member 17 JBrowse link 10 4,252,097 4,258,335 RGD:2317306
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11073716
RGD:8554872
RGD:11075073
RGD:11073728
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11075094
RGD:11075095
G Ulk4 unc-51 like kinase 4 JBrowse link 8 129,631,003 129,919,080 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11079182
G Xpo5 exportin 5 JBrowse link 9 17,125,201 17,163,170 RGD:11041735
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8698655
G Xrcc5 X-ray repair cross complementing 5 JBrowse link 9 79,659,275 79,748,050 RGD:8698655
Occipital Horn Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:7240710
RGD:8554872
RGD:11340205
RGD:11252184
OI/EDS Combined Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
plasmacytic leukemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:5490532
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038665
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
pseudoxanthoma elasticum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc1 ATP binding cassette subfamily C member 1 JBrowse link 10 549,537 672,235 RGD:8554872
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:737772
RGD:8554872
RGD:13792593
RGD:11554173
RGD:11038786
RGD:11038785
RGD:11038782
RGD:11038781
RGD:11038779
RGD:11038778
RGD:11038737
RGD:7240710
G Abcc6em2Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li RGD:13792593
G Abcc6em3Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li RGD:13792593
G Abcc6em4Qlju ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li RGD:13792593
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:8547520
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585748
RGD:9585763
G Fopnl FGFR1OP N-terminal like JBrowse link 10 730,215 751,061 RGD:8554872
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:8547520
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657064
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8547520
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7483615
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:7240710
RGD:8554872
G Xylt2 xylosyltransferase 2 JBrowse link 10 82,386,003 82,399,485 RGD:7240710
RGD:11554173
RGD:8554872
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:7240710
RGD:11040509
RGD:8554872
Shwartzman phenomenon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049456
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11060272
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:7240710
RGD:8554872
RGD:11553863
type I Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
RGD:7240710
RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
RGD:13592920
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Lum lumican JBrowse link 7 38,820,058 38,826,862 RGD:13592920
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
type II Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
RGD:7240710
type III Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11041770
RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Tnxb tenascin XB RGD:8554872
Waldenstroem's macroglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352304
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11040774
RGD:11352262
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049165
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11049165
G Irf4 interferon regulatory factor 4 JBrowse link 17 34,886,746 34,905,191 RGD:11530052
G Myd88 MYD88, innate immune signal transduction adaptor JBrowse link 8 128,022,512 128,027,462 RGD:8554872
RGD:11554173
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      cardiovascular system disease 4065
        vascular disease 3043
          vascular hemostatic disease 184
            Ehlers-Danlos syndrome + 38
            Henoch-Schoenlein purpura + 15
            Shwartzman phenomenon 2
            Waldenstroem's macroglobulinemia 6
            cavernous hemangioma + 10
            cryoglobulinemia + 6
            hereditary hemorrhagic telangiectasia + 7
            hyperglobulinemic purpura 0
            multiple myeloma + 105
            pseudoxanthoma elasticum + 20
            scurvy 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          blood coagulation disease 392
            hemorrhagic disease 378
              vascular hemostatic disease 184
                Ehlers-Danlos syndrome + 38
                Henoch-Schoenlein purpura + 15
                Shwartzman phenomenon 2
                Waldenstroem's macroglobulinemia 6
                cavernous hemangioma + 10
                cryoglobulinemia + 6
                hereditary hemorrhagic telangiectasia + 7
                hyperglobulinemic purpura 0
                multiple myeloma + 105
                pseudoxanthoma elasticum + 20
                scurvy 1
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.