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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP associated with Hypertension, Portal RGD PMID:14647048 RGD:2300333 NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16514058 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP protein:increased expression:heart left ventricle RGD PMID:21193900 RGD:11564331 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G Cav1 caveolin 1 IEP protein:decreased expression:myocardium RGD PMID:22954805 RGD:8661809 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cryab crystallin, alpha B IEP associated with Wounds and Injuries;protein:decreased phosphorylation:heart RGD PMID:17293487 RGD:2303639 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP associated with Wounds, Penetrating RGD PMID:20117814 RGD:5135001 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP associated with Wounds, Penetrating RGD PMID:18434445 RGD:5135230 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO RGD PMID:10470077 RGD:735004 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G Epha7 Eph receptor A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30357299 NCBI chr 5:43,602,744...43,761,198
Ensembl chr 5:43,603,043...43,757,549
JBrowse link
G F10 coagulation factor X ISO RGD PMID:8073392 RGD:11041766 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:12529747 RGD:11041809 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II ISO
IDA
IMP
CTD Direct Evidence: marker/mechanism
associated with Wounds and Injuries
CTD PMID:7740448, PMID:9636195, PMID:23481505, PMID:20664909 RGD:734956, RGD:10449433, RGD:10449431 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8692802 RGD:11341698 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:12707733, PMID:12851533, PMID:16553518 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G F8 coagulation factor VIII treatment ISO RGD PMID:24931420 RGD:11530071 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fermt3 fermitin family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:7844257 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Gata2 GATA binding protein 2 ISO RGD PMID:22996665 RGD:11049511 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
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 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: therapeutic CTD PMID:17980069 NCBI chr 1:72,636,959...72,643,255
Ensembl chr 1:72,635,267...72,643,255
JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:9326742 RGD:11059516 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16153930 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27581200 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11196645 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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, PMID:15016487, PMID:15502123, PMID:22507835 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663, PMID:9266785, PMID:15502123, PMID:15557913 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Podxl podocalyxin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22016802 NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1267567, PMID:3014908 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6991409 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:412531 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Serpine1 serpin family E member 1 treatment IEP
IDA
protein:increased expression:plasma (rat) RGD PMID:26970714, PMID:9263399 RGD:11073619, RGD:11080960 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf2 serpin family F member 2 ISO DNA:missense mutation:cds:p.V384M (human) RGD PMID:10583218 RGD:1580303 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30696774 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:29984229 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20597268, PMID:26445138 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239, PMID:1679289, PMID:2111584, PMID:9754958, PMID:9848098, PMID:10821838, PMID:11311152, PMID:11409420, PMID:11441013, PMID:11528419, PMID:12654973, PMID:15502844, PMID:16178030, PMID:18413473, PMID:19225789, PMID:20228223, PMID:20697050, PMID:24878480, PMID:25741868, PMID:26104569, PMID:26402770, PMID:27000221, PMID:27858710, PMID:28350801, PMID:28492532 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
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 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa 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 chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb 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 chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa 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 chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026, PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124
JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:133,893,418...133,893,497
Ensembl chr 6:133,893,418...133,893,497
JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 OMIM:141200
ClinVar
OMIM
PMID:11961012, PMID:25307543, PMID:25741868, PMID:19357112 RGD:7242047 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by synonym: THIN MEMBRANE NEPHROPATHY
ClinVar
OMIM
PMID:8787673, PMID:9792860, PMID:11961012, PMID:12325029, PMID:14582039, PMID:16338941, PMID:17216251, PMID:24052634, PMID:25525159, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532, PMID:30311386, PMID:19357112 RGD:7242047 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
Blood Loss, Surgical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfdc6a WAP four-disulfide core domain 6A ISO CTD Direct Evidence: therapeutic CTD PMID:9806378 NCBI chr 3:161,036,703...161,040,511
Ensembl chr 3:161,036,703...161,040,511
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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to
CTD
OMIM
ClinVar
PMID:1313972, PMID:1319114, PMID:1328889, PMID:1386652, PMID:1976655, PMID:2847529, PMID:2849100, PMID:7593601, PMID:7729604, PMID:7854377, PMID:7909524, PMID:8131299, PMID:8131300, PMID:8136829, PMID:8170965, PMID:8208911, PMID:8298638, PMID:8314010, PMID:8541160, PMID:8644984, PMID:8675669, PMID:9120002, PMID:9236417, PMID:9259580, PMID:9699903, PMID:9737775, PMID:9916793, PMID:10099885, PMID:10636736, PMID:10643899, PMID:10841123, PMID:11687636, PMID:11956052, PMID:12220450, PMID:12666117, PMID:14657821, PMID:14872014, PMID:15110771, PMID:15277638, PMID:15381116, PMID:15531537, PMID:15534175, PMID:15635071, PMID:19221299 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Anxa1 annexin A1 IEP mRNA:increased expression:brain RGD PMID:16034371 RGD:2306905 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP RGD PMID:15344903 RGD:2315676 NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
JBrowse link
G Apoe apolipoprotein E ISO DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human) RGD PMID:19251191 RGD:6904207 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:25545558 RGD:11541062 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721362 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:20818776 RGD:4891129 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:basal ganglion RGD PMID:23884876 RGD:11561935 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bnip3l BCL2 interacting protein 3 like IEP RGD PMID:23771482 RGD:7483577 NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
JBrowse link
G C3 complement C3 IEP RGD PMID:17114852 RGD:5129540 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:28544790 RGD:13782167 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp3 caspase 3 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:17971790, PMID:28096675 RGD:13782306 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:17971790, PMID:28096675 RGD:13782306 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:28096675 RGD:13782306 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:lung, intestine: RGD PMID:19534684 RGD:7185660 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19064796 RGD:6893504 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cfh complement factor H severity ISO RGD PMID:21871809 RGD:5684553 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:11701153 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Col4a1 collagen type IV alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
CTD
ClinVar
OMIM
PMID:16598045, PMID:22522439, PMID:26467025, PMID:28492532, PMID:16598045 RGD:1581204 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
ClinVar Annotator: match by term: STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:SNPs::
ClinVar
CTD
OMIM
PMID:22209247, PMID:22914737, PMID:24390199, PMID:24646874, PMID:25653287, PMID:25741868, PMID:28492532, PMID:28954878 RGD:13450933 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:19169816 RGD:11039433 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment IMP RGD PMID:24955809 RGD:11352686 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dag1 dystroglycan 1 IEP RGD PMID:25545558 RGD:11541062 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dcx doublecortin IEP protein:increased expression:dentate gyrus RGD PMID:24144742 RGD:12904766 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:9550516 RGD:1581027 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II severity ISO protein:increased expression:plasma RGD PMID:21244583 RGD:5147770 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model
CTD Direct Evidence: therapeutic
CTD PMID:16671457, PMID:21127298, PMID:16671457 RGD:11049545 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEP
ISO
mRNA:increased expression:brain:
CTD Direct Evidence: marker/mechanism
CTD PMID:17888890, PMID:17888890 RGD:10402152 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12401953 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hmox2 heme oxygenase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:16459095 NCBI chr10:10,990,034...11,035,493
Ensembl chr10:10,990,034...11,035,484
JBrowse link
G Hp haptoglobin treatment ISO RGD PMID:20016097, PMID:20016097 RGD:11041810, RGD:11041810 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Cerebral hemorrhage ClinVar PMID:30311386 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgav integrin subunit alpha V ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356, PMID:16102435 RGD:1582447 NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
JBrowse link
G Itgb2 integrin subunit beta 2 ISO RGD PMID:18615643 RGD:6482197 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9445356 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17888890 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:23884876 RGD:11561935 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Mir152 microRNA 152 treatment IDA RGD PMID:31982825 RGD:21066340 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mmp12 matrix metallopeptidase 12 IDA
ISO
RGD PMID:12783419, PMID:15654856 RGD:1582362, RGD:1582358 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10698078 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17971790 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:14630814, PMID:15488484, PMID:15529013, PMID:16190367, PMID:19095969, PMID:17021183 RGD:1582637 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mt1 metallothionein 1 IEP mRNA:increased expression:cerebral cortex, striatum (rat) RGD PMID:16034371 RGD:2306905 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A IEP mRNA:increased expression:cerebral cortex, striatum (rat) RGD PMID:16034371 RGD:2306905 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:24602288 RGD:10041041 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
JBrowse link
G Nfkbia NFKB inhibitor alpha IDA protein:increased phosphorylation:brain RGD PMID:20150961 RGD:10413872 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: therapeutic CTD PMID:19803787 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Npy neuropeptide Y IEP protein:increased expression:plasma (rat) RGD PMID:15068713 RGD:1580182 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP RGD PMID:29050310 RGD:13442476 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Intracerebral hemorrhage ClinVar PMID:1679030, PMID:8889590, PMID:9399896, PMID:9521426, PMID:11461190, PMID:12501224, PMID:16879198, PMID:17935162, PMID:21147011, PMID:21953985, PMID:22513348, PMID:23430547, PMID:23500595, PMID:25596310, PMID:25741868, PMID:26322415, PMID:28492532, PMID:30311386 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
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 PMID:1430592, PMID:1579960, PMID:1899364, PMID:7477192, PMID:7723950, PMID:8969996, PMID:9836764, PMID:10501537, PMID:11113218, PMID:11940547, PMID:14630814, PMID:16126134, PMID:16190367, PMID:16908730, PMID:17690543, PMID:18346647, PMID:18369171, PMID:18753474, PMID:19095969, PMID:20212195, PMID:21088392, PMID:22436003, PMID:23876515, PMID:29651748, PMID:12220690, PMID:25673638 RGD:11537477, RGD:11541064 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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 chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6254450 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Psen1 presenilin 1 ISO RGD PMID:16079160 RGD:1580694 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IDA protein:increased activity:striatum RGD PMID:17250675 RGD:2302394 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825
JBrowse link
G S100b S100 calcium binding protein B disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:19027832, PMID:19505208 RGD:5508801 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Serpina3m serpin family A member 3M ISO RGD PMID:12126519 RGD:1580109 NCBI chr 6:127,808,785...127,816,067
Ensembl chr 6:127,808,785...127,816,055
JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Slc24a1 solute carrier family 24 member 1 IEP mRNA, protein:decreased expression:cerebrum RGD PMID:23564126 RGD:9685494 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
G Slc8b1 solute carrier family 8 member B1 IEP RGD PMID:23564126 RGD:9685494 NCBI chr12:41,566,980...41,590,294
Ensembl chr12:41,566,981...41,590,244
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20440599 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Sqstm1 sequestosome 1 IEP protein:decreased expression:basal ganglion RGD PMID:23884876 RGD:11561935 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
G Thbs1 thrombospondin 1 IEP RGD PMID:20136391 RGD:2317938 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Thbs2 thrombospondin 2 IEP RGD PMID:20136391 RGD:2317938 NCBI chr 1:56,653,929...56,683,571
Ensembl chr 1:56,653,938...56,683,731
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17888890 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
COL4A1-related familial vascular leukoencephalopathy 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 OMIM:607595
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
ClinVar Annotator: match by term: Porencephaly 1
ClinVar
OMIM
PMID:6428250, PMID:7257746, PMID:15023374, PMID:15136694, PMID:15905400, PMID:16107487, PMID:16598045, PMID:17696175, PMID:17938367, PMID:18077766, PMID:19194877, PMID:19477666, PMID:20385946, PMID:20733150, PMID:21527998, PMID:21625620, PMID:22102590, PMID:22522439, PMID:22574627, PMID:23065703, PMID:23225343, PMID:23394911, PMID:24088041, PMID:24628545, PMID:25326635, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26633545, PMID:28017902, PMID:28492532, PMID:30311386, PMID:32042920, PMID:32818659 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385, PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr10:94,850,971...94,913,202 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: nosebleed ClinVar PMID:15687131, PMID:16540754, PMID:17786384, PMID:18159113, PMID:20501893, PMID:21378382, PMID:22632830, PMID:23298310, PMID:23919827, PMID:25741868, PMID:26387786, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin ISO RGD PMID:10562296 RGD:11041563 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:18066575 RGD:7794809 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: therapeutic CTD PMID:6983645 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:24058648 RGD:10058975 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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, PMID:12094328, PMID:12533788, PMID:12690581, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15122511, PMID:15488637, PMID:15492928, PMID:15520402, PMID:16257342, PMID:16492927, PMID:16880452, PMID:17085682, PMID:18172190, PMID:19338683, PMID:19805189, PMID:21807500, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23469205, PMID:24033266, PMID:24884479, PMID:25431674, PMID:25741868, PMID:26084796, PMID:26467025, PMID:26641009, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26884562, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27751358, PMID:27798748, PMID:28125075, PMID:28135145, PMID:28195393, PMID:28492532, PMID:28503720, PMID:28514723, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28874143, PMID:29351919, PMID:29489754, PMID:30311386 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11732872 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:15651117 NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
JBrowse link
G Vwf von Willebrand factor IEP protein:increased expression: : RGD PMID:9790822 RGD:11080743 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Gingival Hemorrhage 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: Gingival hemorrhage ClinVar PMID:32581362 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Gingival hemorrhage ClinVar PMID:1301198, PMID:9232191, PMID:11359213, PMID:15146473, PMID:15365998, PMID:20490928, PMID:20506325, PMID:20567906, PMID:24211323, PMID:25218699, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
GRADE 1 PRETERM INTRAVENTRICULAR HEMORRHAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage ClinVar NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Il6 interleukin 6 treatment ISO associated with Hemophilia A RGD PMID:23413986 RGD:11060150 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G S100b S100 calcium binding protein B IEP
ISO
associated with Stroke;protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:19027832, PMID:19147496 RGD:5508832 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
Hematoma, Epidural, Spinal 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 chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
Hematoma, Subdural, Acute 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 chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:12503044 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Hematuria ClinVar PMID:7894492, PMID:8531967, PMID:8644703, PMID:8833256, PMID:8841191, PMID:9042909, PMID:9150153, PMID:10053113, PMID:10090881, PMID:10447273, PMID:10788334, PMID:11466700, PMID:12142080, PMID:15024741, PMID:15133502, PMID:15353005, PMID:15951956, PMID:15994883, PMID:16541315, PMID:17307836, PMID:18694767, PMID:18762988, PMID:18940477, PMID:19208665, PMID:20301425, PMID:20345474, PMID:20507347, PMID:20569256, PMID:21119707, PMID:21324516, PMID:21503673, PMID:22006311, PMID:22032251, PMID:22185575, PMID:22430266, PMID:23199084, PMID:23232912, PMID:23469205, PMID:23867111, PMID:24033266, PMID:24884479, PMID:25741868, PMID:26295337, PMID:26467025, PMID:26681312, PMID:26718727, PMID:27433846, PMID:28492532, PMID:29335925, PMID:29478780, PMID:29492181, PMID:30311386, PMID:30606148, PMID:31065452 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G C3 complement C3 ISO protein:increased expression:renal arteriole: RGD PMID:10955930 RGD:7183083 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Macroscopic hematuria
ClinVar Annotator: match by term: Hematuria
ClinVar PMID:25741868, PMID:30311386, PMID:19357112 RGD:7242047 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO RGD PMID:19357112 RGD:7242047 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Hematuria ClinVar PMID:9848783, PMID:11223851, PMID:17396119, PMID:19728970, PMID:19965530, PMID:20378821, PMID:21332469, PMID:24470729, PMID:25741868, PMID:26467025, PMID:26809805, PMID:26934356, PMID:28492532, PMID:28844315, PMID:29854973, PMID:30311386 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:17133240 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:30311386 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:30311386 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Hematuria ClinVar PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1267567, PMID:1324751 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Hematuria ClinVar NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
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 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
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 1:240,584,233...240,601,843
Ensembl chr 1:240,562,423...240,601,744
JBrowse link
G Angpt1 angiopoietin 1 ISO RGD PMID:18344375 RGD:2316067 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G Arg2 arginase 2 IEP protein:increased expression:aorta (rat) RGD PMID:20699748 RGD:4143274 NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:decreased serine phosphorylation:lung RGD PMID:15345971 RGD:2292699 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:increased expression:intestine RGD PMID:17693937 RGD:2293072 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 IEP protein:increased expression:liver, mitochondrion RGD PMID:17224795 RGD:1643525 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Casp3 caspase 3 IEP associated with Brain Injuries, Traumatic RGD PMID:29061477 RGD:13782298 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 IEP associated with Brain Injuries, Traumatic RGD PMID:29061477 RGD:13782298 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Cfh complement factor H treatment ISO
IEP
RGD PMID:18403050, PMID:18496585, PMID:15973109 RGD:7364987, RGD:11041173, RGD:7364990 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP mRNA, protein:increased expression:aorta, mesenteric artery RGD PMID:19493421 RGD:2314664 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Cul5 cullin 5 IEP mRNA:altered expression:brain RGD PMID:12635525 RGD:2301433 NCBI chr 8:58,199,992...58,255,149
Ensembl chr 8:58,202,821...58,253,688
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21192278, PMID:21168948 RGD:5128673 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21192278 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21192278 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20539178 RGD:10401059 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Esr1 estrogen receptor 1 severity IMP RGD PMID:20195535 RGD:4892252 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:16859701 RGD:8694176 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F2 coagulation factor II IEP protein:decreased activity:blood (rat) RGD PMID:21550061 RGD:5132267 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII IEP protein:decreased expression:plasma RGD PMID:15748447 RGD:10450768 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO RGD PMID:23073658 RGD:9685733 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP RGD PMID:19077877 RGD:7207423 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gja5 gap junction protein, alpha 5 IEP RGD PMID:19077877 RGD:7207423 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Hmox1 heme oxygenase 1 severity IMP
IEP
RGD PMID:20514418, PMID:20819606 RGD:10755719, RGD:10755727 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin IEP RGD PMID:20016403 RGD:5147418 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A IEP mRNA:increased expression:liver RGD PMID:22266570 RGD:7257601 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA, protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:21192278, PMID:19828841 RGD:4145497 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma IEP protein:increased expression:plasma RGD PMID:19439114 RGD:2311495 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 IEP protein:increased expression:serum, lymph RGD PMID:19160132 RGD:2311060 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:23589298 RGD:14695541 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha IEP mRNA:increased expression:lung RGD PMID:15580020 RGD:2311100 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24986445 RGD:10402801 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 IEP
ISO
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:21192278, PMID:21168948 RGD:5128673 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mapk1 mitogen activated protein kinase 1 IEP protein: increased expression: lung and liver RGD PMID:22392145 RGD:7244173 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21192278 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IDA RGD PMID:24204984 RGD:10041042 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22113495 RGD:7240568 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nos2 nitric oxide synthase 2 IEP mRNA, protein:increased expression:multiple RGD PMID:15854664 RGD:1580937 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Otc ornithine carbamoyltransferase IEP protein:increased activity:serum (rat) RGD PMID:17224795 RGD:1643525 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
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 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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 chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:17724433, PMID:19384202 RGD:6771334 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:26073907 RGD:26923954 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tfam transcription factor A, mitochondrial IEP RGD PMID:22469910 RGD:6767567 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:25049041 RGD:14697700 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21192278, PMID:24315526 RGD:10450602 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vwf von Willebrand factor IEP protein:decreased expression:plasma RGD PMID:15748447 RGD:10450768 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Mefv MEFV innate immuity 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 chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298, PMID:12671112 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:8772238 RGD:11040889 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
Intracranial Hemorrhage, Traumatic 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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
Intracranial Hemorrhages term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:1670590, PMID:1671769, PMID:7815434, PMID:7825603, PMID:8095918, PMID:8455580, PMID:8962139, PMID:9090526, PMID:9096767, PMID:9600244, PMID:10477432, PMID:11456299, PMID:15952986, PMID:18786133, PMID:20301309, PMID:21167507, PMID:25741868, PMID:26462614, PMID:28492532, PMID:30311386 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:30311386 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:25741868, PMID:30311386 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:16598045, PMID:17938367, PMID:22102590 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: therapeutic CTD PMID:15595332, PMID:16159073, PMID:18617125, PMID:20172985, PMID:20522813 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:16450403, PMID:30311386 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Hbb hemoglobin subunit beta IEP mRNA:increased expression:basal ganglion, neuron, glial cell RGD PMID:21725744 RGD:10449050 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 IEP protein:increased expression:brain: RGD PMID:15472083 RGD:10402769 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism:promoter -174G>C(human) RGD PMID:15331795 RGD:12792203 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IMP RGD PMID:29203281 RGD:13504724 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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, PMID:12230423, PMID:15017018, PMID:15215796, PMID:15557913, PMID:17612434, PMID:17687131, PMID:17903947, PMID:20123226, PMID:20536612 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:10392865, PMID:10472989, PMID:10512912, PMID:17308290, PMID:21779364 RGD:6484131 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:23543809 RGD:13515075 NCBI chr10:86,303,727...86,312,770
Ensembl chr10:86,303,727...86,312,762
JBrowse link
G Psen1 presenilin 1 ISO RGD PMID:9160754 RGD:1302520 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:30311386 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:30311386 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Intracranial Hemorrhages ClinVar PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Serping1 serpin family G member 1 treatment ISO associated with Stroke RGD PMID:21779364 RGD:6484131 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984597 NCBI chr18:28,413,910...28,428,133
Ensembl chr18:28,414,009...28,428,117
JBrowse link
G Tf transferrin IEP associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia RGD PMID:16671451 RGD:1601537 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:16322490 RGD:1580310 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23533172 NCBI chr 5:165,247,630...165,259,228
Ensembl chr 5:165,247,133...165,259,224
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 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Il6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:serum: RGD PMID:22906886 RGD:12792208 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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 ClinVar Annotator: match by OMIM:614201 OMIM
ClinVar
PMID:19549989, PMID:19552682 NCBI chr 1:72,994,977...73,064,639
Ensembl chr 1:73,040,901...73,064,641
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 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility ISO ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Platelet-type bleeding disorder 13, susceptibility to
ClinVar
CTD
OMIM
PMID:2955539, PMID:7929844, PMID:8428006, PMID:8613548, PMID:19828703, PMID:22517902, PMID:25741868, PMID:31064749, PMID:9835625 RGD:11059528 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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: Platelet-type bleeding disorder 15
ClinVar Annotator: match by OMIM:615193
OMIM
ClinVar
PMID:23434115, PMID:25741868, PMID:31064749, PMID:31237726, PMID:32581362 NCBI chr 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
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 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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
OMIM
PMID:24958846, PMID:25741868, PMID:31064749, PMID:32581362 NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
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 ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21
ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21, AUTOSOMAL RECESSIVE
ClinVar
OMIM
PMID:23809206, PMID:24100448, PMID:25741868, PMID:26316623, PMID:28255014, PMID:31064749, PMID:32581362 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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: Platelet-type bleeding disorder 8
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar PMID:7706468, PMID:11196645, PMID:20966167, PMID:25741868, PMID:29117459, PMID:31064749 NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
OMIM
ClinVar
PMID:7706468, PMID:11196645, PMID:20966167, PMID:25741868, PMID:29117459, PMID:31064749 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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: Platelet-type bleeding disorder 9
ClinVar Annotator: match by OMIM:614200
OMIM
ClinVar
PMID:19500323, PMID:22862885, PMID:28492532 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,980,964...46,992,886
Ensembl chr 2:46,980,976...46,992,883
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 OMIM
ClinVar
PMID:1430225, PMID:9787162, PMID:14516468, PMID:21658138, PMID:28492532 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Psen2 presenilin 2 ISO RGD PMID:10518543 RGD:1302521 NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
JBrowse link
purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr  X:39,711,001...39,953,860
Ensembl chr  X:39,711,201...39,951,847
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Il13 interleukin 13 susceptibility ISO associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) RGD PMID:16166103 RGD:11528572 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:25741868, PMID:28259615, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 1:247,037,004...247,088,124
Ensembl chr 1:247,046,650...247,088,012
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr19:46,761,353...47,695,247 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 chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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 ClinVar Annotator: match by term: Retinal arteries, tortuosity of OMIM
ClinVar
PMID:20818663, PMID:25228067 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:cerebrospinal fluid RGD PMID:22230897 RGD:8695949 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adora1 adenosine A1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18950269 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP mRNA, protein:increased expression:brain RGD PMID:24291745 RGD:8696000 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27157545 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:26163325 RGD:13782347 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:brain RGD PMID:22521819 RGD:6483046 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bnip3 BCL2 interacting protein 3 treatment IEP RGD PMID:23850688 RGD:11561986 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G C3 complement C3 treatment IEP RGD PMID:26518242 RGD:11040780 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Casp3 caspase 3 treatment ISO
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:24602480, PMID:26163325 RGD:13782347 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 treatment IDA RGD PMID:26163325 RGD:13782347 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 IEP mRNA:increased expression:cerebral artery RGD PMID:17977275 RGD:7488893 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:lung RGD PMID:20731855 RGD:4145368 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 treatment IEP RGD PMID:30226536 RGD:35316073 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8587695 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8587695 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23907045 RGD:10400909 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 treatment IMP
IEP
RGD PMID:29169414, PMID:30226536 RGD:34901873, RGD:35316073 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
JBrowse link
G Esr1 estrogen receptor 1 IEP protein:increased expression:dentate gyrus RGD PMID:23465388 RGD:8553242 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Subarachnoid hemorrhage ClinVar PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gli1 GLI family zinc finger 1 IEP mRNA, protein:increased expression:brain RGD PMID:23933201 RGD:12859044 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:27026509 RGD:13792767 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
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 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:brain RGD PMID:15703702 RGD:1626323 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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 chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B IEP RGD PMID:17542534 RGD:1626451 NCBI chr 8:89,113,984...89,130,830
Ensembl chr 8:89,129,453...89,130,991
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:lung (rat) RGD PMID:20731855 RGD:4145368 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27157545 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human protein RGD PMID:22679224 RGD:7051590 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27157545 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 treatment IEP RGD PMID:22420318 RGD:8662908 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Subarachnoid hemorrhage ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 treatment IEP RGD PMID:30226536 RGD:35316073 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp13 matrix metallopeptidase 13 IDA RGD PMID:16961140 RGD:1582545 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:22475348 RGD:8657107 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:27157545, PMID:17410600 RGD:1642039 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment IEP RGD PMID:22304528 RGD:10412722 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Ngb neuroglobin IEP protein:increased expression:cerebral cortex RGD PMID:24281943 RGD:9743950 NCBI chr 6:111,126,259...111,131,699
Ensembl chr 6:111,126,261...111,132,320
JBrowse link
G Nlk nemo like kinase disease_progression IEP RGD PMID:23325309 RGD:12791279 NCBI chr10:65,840,052...65,963,932
Ensembl chr10:65,840,052...65,963,932
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA:increased expression:brainstem, basilar artery (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:17053178, PMID:21915076 RGD:5509046 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:increased expression:parietal cortex, arteriole (rat) RGD PMID:11273938 RGD:7794687 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP mRNA, protein:increased expression:brain RGD PMID:21259333 RGD:5133235 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Ntn1 netrin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29162556 NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IDA RGD PMID:21193742 RGD:5684779 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:29162556 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment IEP RGD PMID:28546552 RGD:13432565 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Ptch1 patched 1 IEP mRNA, protein:increased expression:brain RGD PMID:23933201 RGD:12859044 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21725746 RGD:5508204 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27157545 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Shh sonic hedgehog signaling molecule IEP mRNA, protein:increased expression:brain RGD PMID:23933201 RGD:12859044 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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 chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:17542534 RGD:1626451 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
JBrowse link
G Tjp1 tight junction protein 1 IDA protein:altered localization RGD PMID:18854840 RGD:2325137 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA, protein:increased expression:brain RGD PMID:19719951 RGD:4144093 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 7:141,039,433...141,070,269
Ensembl chr 7:141,034,982...141,069,989
JBrowse link
G Tnc tenascin C IEP protein:increased expression:basilar artery RGD PMID:19589197 RGD:4889600 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnf tumor necrosis factor IEP
ISO
protein:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:27157545, PMID:19719951 RGD:4144093 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Unc5b unc-5 netrin receptor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29162556 NCBI chr20:30,339,680...30,406,593
Ensembl chr20:30,339,673...30,406,295
JBrowse link
Subarachnoid Hemorrhage, Traumatic 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 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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 chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:11493456, PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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: Upshaw-Schulman syndrome
ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura
ClinVar Annotator: match by OMIM:274150
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
PMID:6433703, PMID:7094941, PMID:11563771, PMID:11586351, PMID:12181489, PMID:12393505, PMID:12576319, PMID:12656756, PMID:12753286, PMID:14512317, PMID:14563640, PMID:14597993, PMID:15009458, PMID:15126318, PMID:15521921, PMID:15800115, PMID:16453338, PMID:16796708, PMID:16807643, PMID:17003922, PMID:17187257, PMID:17627784, PMID:18031293, PMID:18443791, PMID:18481107, PMID:18581589, PMID:18665921, PMID:19047683, PMID:19055667, PMID:19786614, PMID:19847791, PMID:20647566, PMID:20886194, PMID:21488199, PMID:21676167, PMID:21781265, PMID:22289888, PMID:22529288, PMID:22768050, PMID:23346910, PMID:23621748, PMID:23648131, PMID:23715102, PMID:23847193, PMID:24033266, PMID:24936513, PMID:25442981, PMID:25741868, PMID:25934476, PMID:26081109, PMID:26566785, PMID:27132698, PMID:27802307, PMID:28492532, PMID:30312976, PMID:30792199, PMID:31064749, PMID:31971692, PMID:18031293, PMID:11586351, PMID:16200209, PMID:9129011 RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478, PMID:7740478 RGD:11340214 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
ClinVar Annotator: match by OMIM:120433
OMIM
ClinVar
PMID:4997531, PMID:24462371 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Hemorrhage 271
          Bleeding Disorder Due To P2rx1 Defect 0
          Circumvallate Placenta Syndrome 0
          Ecchymosis 0
          Epistaxis + 3
          Exsanguination 0
          Eye Hemorrhage + 2
          Gastrointestinal Hemorrhage + 8
          Hematoma + 5
          Hematuria + 20
          Hemobilia 0
          Hemoperitoneum 0
          Hemoptysis 0
          Hemorrhagic Shock + 49
          Hemothorax + 0
          Intracranial Hemorrhages + 143
          Oral Hemorrhage + 2
          Platelet-Type Bleeding Disorder 13 2
          Platelet-Type Bleeding Disorder 21 1
          Postoperative Hemorrhage + 0
          Pulmonary Hemorrhage + 2
          Retrobulbar Hemorrhage 0
          Surgical Blood Loss 1
          Uterine Hemorrhage + 1
          hemarthrosis + 2
          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 0
          platelet-type bleeding disorder 8 2
          platelet-type bleeding disorder 9 2
          purpura + 62
paths to the root

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