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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hemorrhage
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Accession:DOID:9008217 term browser browse the term
Definition:Bleeding or escape of blood from a vessel.
Synonyms:exact_synonym: Bleeding;   Hemorrhages
 primary_id: MESH:D006470;   RDO:0004420


show annotations for term's descendants           Sort by:
Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO associated with Premature Birth;DNA:polymorphism:promoter:-6G>A (human) RGD PMID:19733287 RGD:11039046 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:31186542 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP associated with Hypertension, Portal RGD PMID:14647048 RGD:2300333 NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514058 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP protein:increased expression:heart left ventricle RGD PMID:21193900 RGD:11564331 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Cav1 caveolin 1 IEP protein:decreased expression:myocardium RGD PMID:22954805 RGD:8661809 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cryab crystallin, alpha B IEP associated with Wounds and Injuries;protein:decreased phosphorylation:heart RGD PMID:17293487 RGD:2303639 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP associated with Wounds, Penetrating RGD PMID:20117814 RGD:5135001 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP associated with Wounds, Penetrating RGD PMID:18434445 RGD:5135230 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO RGD PMID:10470077 RGD:735004 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317 		JBrowse link
G Epha7 Eph receptor A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30357299 NCBI chr 5:42,975,353...43,128,703
Ensembl chr 5:42,975,405...43,127,112 		JBrowse link
G F10 coagulation factor X ISO RGD PMID:8073392 RGD:11041766 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:12529747 RGD:11041809 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G F2 coagulation factor II, thrombin ISO
IDA
IMP		 CTD Direct Evidence: marker/mechanism
associated with Wounds and Injuries		 CTD
RGD		 PMID:7740448 PMID:9636195 PMID:23481505 PMID:20664909 RGD:734956, RGD:10449433, RGD:10449431 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8692802 RGD:11341698 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Hemorrhage ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:12707733 PMID:12851533 PMID:16553518 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G F8 coagulation factor VIII treatment ISO ClinVar Annotator: match by term: Hemorrhage ClinVar
RGD		 PMID:6438527 PMID:7728145 PMID:7984443 PMID:11442643 PMID:15921397 More... RGD:11530071 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hemorrhage ClinVar PMID:25741868 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:7844257 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Gata2 GATA binding protein 2 ISO RGD PMID:22996665 RGD:11049511 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31190750 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31190750 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP associated with Wounds and Injuries;mRNA, protein:decreased expression:heart RGD PMID:16288780 RGD:1624234 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: therapeutic CTD PMID:17980069 NCBI chr 1:69,069,829...69,076,129
Ensembl chr 1:69,068,137...69,076,129 		JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:9326742 RGD:11059516 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16153930 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27581200 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11196645 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Hemorrhage ClinVar PMID:25741868 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:2514002 PMID:8082347 PMID:8427107 PMID:9199818 PMID:9266785 More... NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 PMID:9266785 PMID:15502123 PMID:15557913 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Podxl podocalyxin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22016802 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1267567 PMID:3014908 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO ClinVar Annotator: match by term: Hemorrhage ClinVar PMID:25741868 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6991409 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:412531 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Hemorrhage ClinVar PMID:25741868 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Serpine1 serpin family E member 1 treatment IEP
ISO
IDA		 protein:increased expression:plasma (rat)
ClinVar Annotator: match by term: Hemorrhage		 ClinVar
RGD		 PMID:25741868 PMID:26970714 PMID:9263399 RGD:11073619, RGD:11080960 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf2 serpin family F member 2 ISO DNA:missense mutation:cds:p.V384M (human) RGD PMID:10583218 RGD:1580303 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30696774 NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:29984229 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068094 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20597268 PMID:26445138 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Hemorrhage ClinVar PMID:16985174 PMID:18230755 PMID:18344424 PMID:19506353 PMID:22995991 More... NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
Acute Subdural Hematoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin treatment ISO RGD PMID:23415790 RGD:10401075 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:12503044 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 treatment IMP RGD PMID:15379997 RGD:329969897 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related		 CTD
ClinVar
OMIM		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)		 RGD PMID:17654056 PMID:22537155 PMID:18341638 PMID:16188945 RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)		 RGD PMID:18683034 PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr2a Fc gamma receptor 2A no_association
susceptibility
treatment		 ISO DNA:SNP:cds:p.R131H (human) RGD PMID:20699442 PMID:23249566 PMID:22123287 PMID:21131591 RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B treatment
disease_progression		 ISO DNA:SNP: :p.I232T (human) RGD PMID:21131591 PMID:21045192 PMID:22257295 PMID:15566359 PMID:19549396 RGD:11040933, RGD:11344955, RGD:11344931, RGD:11344928, RGD:11344927 NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fcgr3a Fc gamma receptor 3A treatment
susceptibility		 ISO DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:11380443 PMID:23484707 PMID:22123287 PMID:15479722 RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)		 RGD PMID:25051072 PMID:22677268 RGD:11041894, RGD:11046267 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026 PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629 		JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858 		JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)		 RGD PMID:21597364 PMID:27309885 RGD:6484673, RGD:11535019 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Bb RT1 class II, locus Bb treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura ClinVar PMID:32853638 PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:		 RGD PMID:11886393 PMID:24763013 PMID:24801815 RGD:11073598, RGD:11073603, RGD:11073600 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Basal Ganglia Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin severity ISO protein:decreased expression:blood plasma (human) RGD PMID:23142649 RGD:329333032 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
benign familial hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria ClinVar
RGD		 PMID:2557550 PMID:9536098 PMID:11134255 PMID:11961012 PMID:12028435 More... RGD:7242047 NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8787673 PMID:9536098 PMID:9792860 PMID:11961012 PMID:12325029 More... RGD:7242047 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar PMID:25741868 PMID:28492532 PMID:29764427 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:25741868 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:9108089 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Benign Familial Hematuria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: COL4A4-related condition OMIM
ClinVar		 PMID:9536098 PMID:9792860 PMID:12325029 PMID:12631110 PMID:14871398 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
Benign Familial Hematuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO OMIM NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
brain small vessel disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
OMIM:175780
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
Cerebral Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to		 CTD
ClinVar		 PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More... NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Anxa1 annexin A1 IEP mRNA:increased expression:brain RGD PMID:16034371 RGD:2306905 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP RGD PMID:15344903 RGD:2315676 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785 		JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human) RGD PMID:19251191 RGD:6904207 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:25545558 RGD:11541062 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:20818776 RGD:4891129 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:basal ganglion RGD PMID:23884876 RGD:11561935 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bnip3l BCL2 interacting protein 3 like IEP RGD PMID:23771482 RGD:7483577 NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803 		JBrowse link
G C3 complement C3 IEP RGD PMID:17114852 RGD:5129540 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:28544790 RGD:13782167 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp3 caspase 3 ameliorates
treatment		 ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17971790 PMID:31376096 PMID:28096675 RGD:329337378, RGD:13782306 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp8 caspase 8 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17971790 PMID:28096675 RGD:13782306 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:28096675 RGD:13782306 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:lung, intestine: RGD PMID:19534684 RGD:7185660 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19064796 RGD:6893504 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cfh complement factor H severity ISO RGD PMID:21871809 RGD:5684553 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:11701153 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... RGD:1581204 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO DNA:SNPs::
ClinVar Annotator: match by term: COL4A2-Related Disorder | ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:22209247 PMID:22914737 PMID:24390199 PMID:24646874 PMID:25653287 More... RGD:13450933 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:19169816 RGD:11039433 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment IMP RGD PMID:24955809 RGD:11352686 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dag1 dystroglycan 1 IEP RGD PMID:25545558 RGD:11541062 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dcx doublecortin IEP protein:increased expression:dentate gyrus RGD PMID:24144742 RGD:12904766 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Cerebral hemorrhage ClinVar PMID:23929304 PMID:27067486 PMID:28492532 PMID:34776502 NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:9550516 RGD:1581027 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G F2 coagulation factor II, thrombin severity ISO protein:increased expression:plasma RGD PMID:21244583 RGD:5147770 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:16671457 PMID:21127298 PMID:16671457 RGD:11049545 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEP
ISO		 mRNA:increased expression:brain:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17888890 PMID:17888890 RGD:10402152 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO protein:increased expression:thalamic complex RGD PMID:34102854 RGD:329812008 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Gp6 glycoprotein VI ameliorates ISO associated with hypertension RGD PMID:33556561 RGD:401794565 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12401953 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hmox2 heme oxygenase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:16459095 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Hp haptoglobin treatment ISO RGD PMID:20016097 PMID:20016097 RGD:11041810, RGD:11041810 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Ifnb1 interferon beta 1 exacerbates ISO RGD PMID:29301581 RGD:401854231 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Il1b interleukin 1 beta ameliorates IEP RGD PMID:31376096 RGD:329337378 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment IEP
ISO		 mRNA:increased expression:striatum (rat)
human gene in a rat model		 RGD PMID:22707991 PMID:14753487 RGD:6997504, RGD:8551833 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ameliorates IEP RGD PMID:31376096 RGD:329337378 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgav integrin subunit alpha V ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9445356 PMID:16102435 RGD:1582447 NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO RGD PMID:18615643 RGD:6482197 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17888890 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Lcn2 lipocalin 2 IEP RGD PMID:23416150 RGD:126790480 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:23884876 RGD:11561935 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Mir126a microRNA 126a ameliorates IMP RGD PMID:32160957 RGD:401851064 NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180 		JBrowse link
G Mir140 microRNA 140 ameliorates IMP RGD PMID:31376096 RGD:329337378 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675 		JBrowse link
G Mir152 microRNA 152 treatment IDA RGD PMID:31982825 RGD:21066340 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020 		JBrowse link
G Mir23a microRNA 23a ameliorates IMP
ISO		 RNA:increased expression:serum RGD PMID:33403590 PMID:29771433 RGD:155882539, RGD:155882557 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071 		JBrowse link
G Mmp12 matrix metallopeptidase 12 IDA
ISO		 RGD PMID:12783419 PMID:15654856 RGD:1582362, RGD:1582358 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10698078 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17971790 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:14630814 PMID:15488484 PMID:15529013 PMID:16190367 PMID:19095969 More... RGD:1582637 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mt1 metallothionein 1 IEP mRNA:increased expression:cerebral cortex, striatum (rat) RGD PMID:16034371 RGD:2306905 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049 		JBrowse link
G Mt2A metallothionein 2A IEP mRNA:increased expression:cerebral cortex, striatum (rat) RGD PMID:16034371 RGD:2306905 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:24602288 RGD:10041041 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Nfkbia NFKB inhibitor alpha IDA protein:increased phosphorylation:brain RGD PMID:20150961 RGD:10413872 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: therapeutic CTD PMID:19803787 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Npy neuropeptide Y IEP protein:increased expression:plasma (rat) RGD PMID:15068713 RGD:1580182 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP RGD PMID:29050310 RGD:13442476 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Plat plasminogen activator, tissue type treatment
severity		 IDA
ISO		 human protein in a rat model
CTD Direct Evidence: marker/mechanism
associated with Brain Injuries		 CTD
RGD		 PMID:1430592 PMID:1579960 PMID:1899364 PMID:7477192 PMID:7723950 More... RGD:11537477, RGD:11541064 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:1265806 PMID:8025938 PMID:9731615 PMID:15181847 PMID:17702958 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6254450 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Psen1 presenilin 1 ISO RGD PMID:16079160 RGD:1580694 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP
ISO		 protein:increased expression:neuron, astrocyte, blood vessel RGD PMID:21385433 PMID:21385433 RGD:5508223, RGD:5508223 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rad21 RAD21 cohesin complex component severity IMP RGD PMID:36538854 RGD:243065265 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA mRNA, protein:increased expression, increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507 		JBrowse link
G S100b S100 calcium binding protein B disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19027832 PMID:19505208 RGD:5508801 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO RGD PMID:12126519 RGD:1580109 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 IEP mRNA, protein:decreased expression:cerebrum RGD PMID:23564126 RGD:9685494 NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001 		JBrowse link
G Slc8b1 solute carrier family 8 member B1 IEP RGD PMID:23564126 RGD:9685494 NCBI chr12:36,029,759...36,053,087
Ensembl chr12:36,029,760...36,053,031 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20440599 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Sqstm1 sequestosome 1 IEP protein:decreased expression:basal ganglion RGD PMID:23884876 RGD:11561935 NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Thbs1 thrombospondin 1 IEP RGD PMID:20136391 RGD:2317938 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Thbs2 thrombospondin 2 IEP RGD PMID:20136391 RGD:2317938 NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789 		JBrowse link
G Tnf tumor necrosis factor ameliorates IEP RGD PMID:31376096 RGD:329337378 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17888890 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms		 RGD PMID:19473056 PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
treatment		 ISO associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:		 RGD PMID:19786980 PMID:20303013 RGD:5688741, RGD:10450835 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms		 RGD PMID:7666093 PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385 PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pf4 platelet factor 4 treatment IEP RGD PMID:31863655 RGD:329901923 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
Epistaxis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Epistaxis ClinVar PMID:11484689 PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis ClinVar
RGD		 PMID:15879500 PMID:16542389 PMID:28492532 PMID:30251589 PMID:10562296 RGD:11041563 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:18066575 RGD:7794809 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
Gastrointestinal Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:24430131 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: therapeutic CTD PMID:6983645 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:24058648 RGD:10058975 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Hematochezia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11732872 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 susceptibility ISO associated with Gastrointestinal Diseases; DNA:polymorphisms: : RGD PMID:25605208 RGD:124713539 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Hematochezia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:15651117 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Serpine1 serpin family E member 1 ISO ClinVar Annotator: match by term: Gastrointestinal hemorrhage ClinVar PMID:25741868 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Vwf von Willebrand factor IEP protein:increased expression: : RGD PMID:9790822 RGD:11080743 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
hemarthrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) RGD PMID:19444976 RGD:11528538 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G F8 coagulation factor VIII treatment IMP RGD PMID:31899798 RGD:150520060 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:31899798 RGD:150520060
G F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi treatment IMP RGD PMID:31899798 RGD:150520060
G Il6 interleukin 6 treatment ISO associated with Hemophilia A RGD PMID:23413986 RGD:11060150 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
Hematoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule treatment ISO associated with Cerebral Hemorrhage RGD PMID:24808360 PMID:24808360 RGD:11040930, RGD:11040930 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G S100b S100 calcium binding protein B IEP
ISO		 associated with Stroke;protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19027832 PMID:19147496 RGD:5508832 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
Hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
G C3 complement C3 ISO protein:increased expression:renal arteriole: RGD PMID:10955930 RGD:7183083 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria ClinVar
RGD		 PMID:8956999 PMID:16199547 PMID:24052634 PMID:24854265 PMID:25307543 More... RGD:7242047 NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Hematuria ClinVar
RGD		 PMID:24052634 PMID:24854265 PMID:25741868 PMID:26809805 PMID:28492532 More... RGD:7242047 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain onset ISO
IMP		 ClinVar Annotator: match by term: Hematuria ClinVar
RGD		 PMID:9150741 PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 More... RGD:329845598 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Col4a5em1Matsu collagen type IV alpha 5 chain; CRISPR/Cas9 induced mutant 1, Matsu onset IMP RGD PMID:34675305 RGD:329845598
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29027484 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:17133240 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IDA
IEP		 RGD PMID:22634839 PMID:22634839 RGD:7242178, RGD:7242178 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:25741868 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1267567 PMID:1324751 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
Hemophilic Arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII treatment IMP RGD PMID:27060449 RGD:150520059 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:27060449 RGD:150520059
Hemorrhagic Shock term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin treatment ISO
IEP		 RGD PMID:18403050 PMID:15973109 RGD:7364987, RGD:7364990 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Aldh1a7 aldehyde dehydrogenase family 1, subfamily A7 severity IEP mRNA:decreased expression:liver RGD PMID:23810746 PMID:21643955 RGD:14367884, RGD:14367885 NCBI chr 1:218,201,443...218,241,410 JBrowse link
G Angpt1 angiopoietin 1 ISO RGD PMID:18344375 RGD:2316067 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067 		JBrowse link
G Arg2 arginase 2 IEP protein:increased expression:aorta (rat) RGD PMID:20699748 RGD:4143274 NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378 		JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:decreased serine phosphorylation:lung RGD PMID:15345971 RGD:2292699 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:increased expression:intestine RGD PMID:17693937 RGD:2293072 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 IEP protein:increased expression:liver, mitochondrion RGD PMID:17224795 RGD:1643525 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Casp3 caspase 3 IEP associated with Brain Injuries, Traumatic RGD PMID:29061477 RGD:13782298 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp8 caspase 8 IEP associated with Brain Injuries, Traumatic RGD PMID:29061477 RGD:13782298 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Cfh complement factor H treatment ISO
IEP		 RGD PMID:18403050 PMID:18496585 PMID:15973109 RGD:7364987, RGD:11041173, RGD:7364990 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cnr1 cannabinoid receptor 1 IMP mRNA, protein:increased expression:aorta, mesenteric artery RGD PMID:19493421 RGD:2314664 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Cul5 cullin 5 IEP mRNA:altered expression:brain RGD PMID:12635525 RGD:2301433 NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21192278 PMID:21168948 RGD:5128673 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21192278 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21192278 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20539178 RGD:10401059 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Esr1 estrogen receptor 1 severity IMP RGD PMID:20195535 RGD:4892252 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:16859701 RGD:8694176 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II, thrombin IEP protein:decreased activity:blood (rat) RGD PMID:21550061 RGD:5132267 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII IEP protein:decreased expression:plasma RGD PMID:15748447 RGD:10450768 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO RGD PMID:23073658 RGD:9685733 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Gja1 gap junction protein, alpha 1 IEP RGD PMID:19077877 RGD:7207423 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gja5 gap junction protein, alpha 5 IEP RGD PMID:19077877 RGD:7207423 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Glul glutamate-ammonia ligase treatment IEP RGD PMID:12766648 RGD:401794596 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gpt glutamic--pyruvic transaminase treatment IEP RGD PMID:16141011 RGD:401717565 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Hmox1 heme oxygenase 1 severity IMP
IEP		 RGD PMID:20514418 PMID:20819606 RGD:10755719, RGD:10755727 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin IEP RGD PMID:20016403 RGD:5147418 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A IEP mRNA:increased expression:liver RGD PMID:22266570 RGD:7257601 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA, protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21192278 PMID:19828841 RGD:4145497 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma IEP protein:increased expression:plasma RGD PMID:19439114 RGD:2311495 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 IEP protein:increased expression:serum, lymph RGD PMID:19160132 RGD:2311060 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:23589298 RGD:14695541 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha IEP mRNA:increased expression:lung RGD PMID:15580020 RGD:2311100 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta severity IEP mRNA:increased expression:lung
protein:increased expression:kidney, serum (rat)		 RGD PMID:15580020 PMID:21336199 PMID:17545943 RGD:2311100, RGD:7175325, RGD:1626655 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24986445 RGD:10402801 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 IEP
ISO		 protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21192278 PMID:21168948 RGD:5128673 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 IEP protein: increased expression: lung and liver RGD PMID:22392145 RGD:7244173 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:16141011 RGD:401717565 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21192278 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IDA RGD PMID:24204984 RGD:10041042 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22113495 RGD:7240568 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP RGD PMID:11557243 RGD:127285020 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP mRNA, protein:increased expression:multiple RGD PMID:15854664 RGD:1580937 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP mRNA:increased expression: :multiple RGD PMID:15854664 PMID:29122552 RGD:1580937, RGD:13450929 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Otc ornithine transcarbamylase IEP protein:increased activity:serum (rat) RGD PMID:17224795 RGD:1643525 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP
ISO		 protein:increased phosphorylation:nucleus, liver
protein:increased phosphorylation, altered location:nucleus, endothelial cell, lung		 RGD PMID:17950078 PMID:18469645 PMID:17950083 RGD:2298842, RGD:2298781, RGD:2298841 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Sirt1 sirtuin 1 treatment IMP
IEP		 protein:decreased expression:heart left ventricle RGD PMID:22113495 PMID:21554952 RGD:7240568, RGD:9585770 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17724433 PMID:19384202 RGD:6771334 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:26073907 RGD:26923954 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tfam transcription factor A, mitochondrial IEP RGD PMID:22469910 RGD:6767567 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:16141011 RGD:401717565 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:16141011 RGD:401717565 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:25049041 RGD:14697700 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor treatment IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21192278 PMID:24315526 RGD:10450602 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ameliorates IDA RGD PMID:19333144 RGD:127284838 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203 		JBrowse link
G Vwf von Willebrand factor IEP protein:decreased expression:plasma RGD PMID:15748447 RGD:10450768 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)		 RGD PMID:16521052 PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)		 RGD PMID:26234573 PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il27 interleukin 27 ISO mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" RGD PMID:33280050 RGD:126790550 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Kng1 kininogen 1 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)		 RGD PMID:22451026 PMID:25232290 PMID:20602240 RGD:7349346, RGD:11531116, RGD:7349347 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8772238 RGD:11040889 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Il10 interleukin 10 no_association ISO DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)		 RGD PMID:22239992 PMID:22239992 RGD:11049164, RGD:11049164 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
Intracranial Hemorrhages term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:15595332 PMID:16159073 PMID:18617125 PMID:20172985 PMID:20522813 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Hbb hemoglobin subunit beta IEP mRNA:increased expression:basal ganglion, neuron, glial cell RGD PMID:21725744 RGD:10449050 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 IEP protein:increased expression:brain: RGD PMID:15472083 RGD:10402769 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism:promoter -174G>C(human) RGD PMID:15331795 RGD:12792203 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IMP RGD PMID:29203281 RGD:13504724 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:25741868 NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:2104561 PMID:3168586 PMID:7902905 PMID:8961984 PMID:11320361 More... NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10392865 PMID:10472989 PMID:10512912 PMID:17308290 PMID:21779364 RGD:6484131 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:23543809 RGD:13515075 NCBI chr10:83,347,731...83,356,775
Ensembl chr10:83,347,731...83,356,775 		JBrowse link
G Psen1 presenilin 1 ISO RGD PMID:9160754 RGD:1302520 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Serping1 serpin family G member 1 treatment ISO associated with Stroke RGD PMID:21779364 RGD:6484131 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein IEP mRNA:decreased expression:brain: RGD PMID:34368865 RGD:155804268 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984597 NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697 		JBrowse link
G Tf transferrin IEP associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia RGD PMID:16671451 RGD:1601537 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:16322490 RGD:1580310 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23533172 NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271 		JBrowse link
Intracranial Subdural Hematoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp6 glycoprotein VI exacerbates ISO RGD PMID:21258336 RGD:401824683 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
G Mdm2 MDM2 proto-oncogene treatment IMP RGD PMID:34334113 RGD:155882538 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 treatment IMP
IEP		 protein:increased expression:brain (rat) RGD PMID:34334113 PMID:34334113 RGD:155882538, RGD:155882538 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
Intraventricular Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bace1 beta-secretase 1 IEP protein:increased expression:hippocampus RGD PMID:30028260 RGD:13782136 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Intraventricular hemorrhage ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Intraventricular hemorrhage ClinVar PMID:25741868 PMID:33527515 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Il6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:serum: RGD PMID:22906886 RGD:12792208 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
Peptic Ulcer Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:20824505 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
pituitary apoplexy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:12699433 PMID:12699434 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
platelet-type bleeding disorder 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp6 glycoprotein VI ISO DNA:insertion:exon 6:c.711_712insA (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Platelet-type bleeding disorder 11		 OMIM
CTD
ClinVar
RGD		 PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 More... RGD:401794132 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation ClinVar PMID:32581362 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility ISO ClinVar Annotator: match by term: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 13, susceptibility to | ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More... RGD:11059528 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More... NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206 PMID:26316623 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
platelet-type bleeding disorder 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24958846 PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 More... NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993 		JBrowse link
platelet-type bleeding disorder 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 More... NCBI chr10:68,076,326...68,087,794 JBrowse link
Platelet-Type Bleeding Disorder 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21		 OMIM
CTD
ClinVar		 PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 More... NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
platelet-type bleeding disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 ClinVar PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More... NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO
ISS		 OMIM:609821
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8		 OMIM
MouseDO
CTD
ClinVar		 PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More... NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361 		JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM ClinVar
OMIM		 PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
Preterm Intraventricular Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Preterm intraventricular hemorrhage ClinVar PMID:25741868 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
G Gsn gelsolin ISO protein:decreased expression:blood plasma (human) RGD PMID:28755273 RGD:329337382 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage ClinVar PMID:31474318 NCBI chr 9:950,939...967,905
Ensembl chr 9:950,939...961,521 		JBrowse link
Pulmonary Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed IMP associated with Pancreatitis, Experimental, sepsis; RGD PMID:7587785 RGD:10450559 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Psen2 presenilin 2 ISO RGD PMID:10518543 RGD:1302521 NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il13 interleukin 13 susceptibility ISO associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) RGD PMID:16166103 RGD:11528572 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
purpura fulminans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:18376272 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
retinal arterial tortuosity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of		 CTD
ClinVar
OMIM		 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Retinal arterial tortuosity ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
Spinal Epidural Hematoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:10914357 PMID:12227717 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
Subarachnoid Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 treatment IMP RGD PMID:24114458 RGD:10003028 NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:cerebrospinal fluid RGD PMID:22230897 RGD:8695949 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adora1 adenosine A1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18950269 NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP mRNA, protein:increased expression:brain RGD PMID:24291745 RGD:8696000 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27157545 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Aqp4 aquaporin 4 exacerbates IEP
IMP		 mRNA:increased expression:brain: RGD PMID:33574749 PMID:33574749 RGD:127284879, RGD:127284879 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Aqp4em1Hrt aquaporin 4; TALEN induced mutant 1, Hrt exacerbates IMP RGD PMID:33574749 RGD:127284879
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:26163325 RGD:13782347 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:brain RGD PMID:22521819 RGD:6483046 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bnip3 BCL2 interacting protein 3 treatment IEP RGD PMID:23850688 RGD:11561986 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G C3 complement C3 treatment IEP RGD PMID:26518242 RGD:11040780 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Casp3 caspase 3 treatment ISO
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:24602480 PMID:26163325 RGD:13782347 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 treatment IDA RGD PMID:26163325 RGD:13782347 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 IEP mRNA:increased expression:cerebral artery RGD PMID:17977275 RGD:7488893 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:lung RGD PMID:20731855 RGD:4145368 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cybb cytochrome b-245 beta chain IEP Protein:increased expression:cerebral cortex
mRNA:increased expression:cerebral vessel:		 RGD PMID:16671452 PMID:12142572 RGD:1599680, RGD:11040582 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO DNA:snp:cds:p.I118V (human) RGD PMID:18566305 RGD:5685415 NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 treatment IEP RGD PMID:30226536 RGD:35316073 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8587695 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8587695 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23907045 RGD:10400909 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 treatment ISO RGD PMID:28756200 RGD:151893490 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 treatment IMP
IEP		 RGD PMID:29169414 PMID:30226536 RGD:34901873, RGD:35316073 NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029 		JBrowse link
G Esr1 estrogen receptor 1 IEP protein:increased expression:dentate gyrus RGD PMID:23465388 RGD:8553242 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Gli1 GLI family zinc finger 1 IEP mRNA, protein:increased expression:brain RGD PMID:23933201 RGD:12859044 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:increased expression:plasma RGD PMID:32326289 RGD:401827845 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:27026509 RGD:13792767 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Gsn gelsolin disease_progression
severity		 IEP
ISO		 mRNA, protein:altered expression:cerebral cortex (rat)
protein:decreased expression:blood plasma (human)		 RGD PMID:25744577 PMID:23880145 RGD:11055426, RGD:329333027 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP mRNA,protein:decreased expression:hippocampus: RGD PMID:22378889 RGD:9686397 NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:brain RGD PMID:15703702 RGD:1626323 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmox1 heme oxygenase 1 IMP
ISO
IEP		 mRNA:increased expression:subarachnoid space RGD PMID:16543643 PMID:14657544 PMID:19686725 RGD:1582702, RGD:1598406, RGD:4145300 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP mRNA:increased expression:brain stem RGD PMID:14753490 RGD:1624246 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B IEP RGD PMID:17542534 RGD:1626451 NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:lung (rat) RGD PMID:20731855 RGD:4145368 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27157545 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human protein RGD PMID:22679224 RGD:7051590 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27157545 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf9 interferon regulatory factor 9 ameliorates IMP RGD PMID:29480757 RGD:125093745 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 treatment IEP RGD PMID:22420318 RGD:8662908 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Lcn2 lipocalin 2 ameliorates ISO RGD PMID:26463936 RGD:126781835 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 treatment IEP RGD PMID:30226536 RGD:35316073 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 treatment IEP RGD PMID:29273596 RGD:155804269 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 IDA RGD PMID:16961140 RGD:1582545 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:22475348 RGD:8657107 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27157545 PMID:17410600 RGD:1642039 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IEP RGD PMID:22304528 RGD:10412722 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Ngb neuroglobin IEP protein:increased expression:cerebral cortex RGD PMID:24281943 RGD:9743950 NCBI chr 6:106,744,378...106,749,830
Ensembl chr 6:106,744,378...106,749,830 		JBrowse link
G Nlk nemo like kinase disease_progression IEP RGD PMID:23325309 RGD:12791279 NCBI chr10:63,467,388...63,590,960
Ensembl chr10:63,438,222...63,589,730 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA:increased expression:brainstem, basilar artery (mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17053178 PMID:21915076 RGD:5509046 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:increased expression:parietal cortex, arteriole (rat) RGD PMID:11273938 RGD:7794687 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP mRNA, protein:increased expression:brain RGD PMID:21259333 RGD:5133235 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:28756200 RGD:151893490 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Ntn1 netrin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29162556 NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IDA RGD PMID:21193742 RGD:5684779 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pdcd10 programmed cell death 10 IEP protein:decreased expression:brain, microglial cell (rat) RGD PMID:32302649 RGD:401827168 NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ameliorates IMP RGD PMID:29480757 RGD:125093745 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta treatment ISO RGD PMID:28756200 RGD:151893490 NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663 		JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting susceptibility ISO DNA:polymorphism:cds:p.Gly243Asp(human) RGD PMID:16741147 RGD:155630602 NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:29162556 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment IEP RGD PMID:28546552 RGD:13432565 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Ptch1 patched 1 IEP mRNA, protein:increased expression:brain RGD PMID:23933201 RGD:12859044 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21725746 RGD:5508204 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27157545 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP mRNA, protein:increased expression:brain RGD PMID:23933201 RGD:12859044 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Smo smoothened, frizzled class receptor treatment IDA RGD PMID:28149272 RGD:150521623 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 IEP mRNA, protein:increased expression, increased phosphorylation:cerebral artery RGD PMID:24517975 RGD:8694356 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:17542534 RGD:1626451 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733 		JBrowse link
G Tjp1 tight junction protein 1 IDA protein:altered localization RGD PMID:18854840 RGD:2325137 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432 		JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA, protein:increased expression:brain RGD PMID:19719951 RGD:4144093 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tmbim6 transmembrane BAX inhibitor motif containing 6 treatment IDA
IEP		 mRNA,protein:decreased expression:brain RGD PMID:30226536 PMID:30226536 RGD:35316073, RGD:35316073 NCBI chr 7:130,527,313...130,542,567
Ensembl chr 7:130,527,316...130,543,633 		JBrowse link
G Tnc tenascin C IEP protein:increased expression:basilar artery RGD PMID:19589197 RGD:4889600 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnf tumor necrosis factor IEP
ISO		 protein:increased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:27157545 PMID:19719951 RGD:4144093 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 treatment
severity		 IEP
ISO		 RGD PMID:30910643 PMID:33727099 RGD:127284863, RGD:127284864 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 IEP protein:increased expression:entorhinal cortex RGD PMID:24114458 RGD:10003028 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Unc5b unc-5 netrin receptor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29162556 NCBI chr20:28,697,726...28,764,474
Ensembl chr20:28,697,726...28,764,537 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator treatment ISO RGD PMID:28756200 RGD:151893490 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
Subdural Hematoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:1899364 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO RGD PMID:23103637 RGD:11040532 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:11493456 PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome
CTD Direct Evidence: marker/mechanism
Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)
DNA:mutations:multiple (human)
protein:decreased activity:plasma (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 More... RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7740478 PMID:7740478 RGD:11340214 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 treatment ISO human protein in a rat model RGD PMID:9828246 PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
Traumatic Intracranial Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:20370756 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
Traumatic Subarachnoid Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 treatment IMP RGD PMID:18854840 RGD:2325137 NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
Uterine Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:12933578 RGD:10450744 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Hemorrhage 305
          Bleeding Disorder Due To P2rx1 Defect 0
          Circumvallate Placenta Syndrome 0
          Ecchymosis 0
          Epistaxis + 3
          Exsanguination 0
          Eye Hemorrhage + 3
          Gastrointestinal Hemorrhage + 11
          Hematoma + 9
          Hematuria + 20
          Hemobilia 0
          Hemoperitoneum 0
          Hemoptysis 0
          Hemorrhagic Shock + 56
          Hemothorax + 0
          Intracranial Hemorrhages + 163
          Oral Hemorrhage + 0
          Platelet-Type Bleeding Disorder 13 2
          Platelet-Type Bleeding Disorder 21 1
          Postoperative Hemorrhage + 0
          Pulmonary Hemorrhage + 2
          Retrobulbar Hemorrhage 0
          Surgical Blood Loss 0
          Uterine Hemorrhage + 1
          hemarthrosis + 7
          hematocele of tunica vaginalis testis 0
          platelet-type bleeding disorder 11 1
          platelet-type bleeding disorder 15 2
          platelet-type bleeding disorder 18 1
          platelet-type bleeding disorder 19 0
          platelet-type bleeding disorder 20 1
          platelet-type bleeding disorder 8 2
          platelet-type bleeding disorder 9 2
          purpura + 58
paths to the root