Hemorrhage - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:9008217	browse the term
Definition:	Bleeding or escape of blood from a vessel.
Synonyms:	exact_synonym:	Bleeding; Hemorrhages
	primary_id:	MESH:D006470; RDO:0004420

show annotations for term's descendants Sort by:
Rat (305) Mouse (294) Human (2035) Chinchilla (256) Bonobo (280) Dog (280) Squirrel (260) Pig (276) Green Monkey (272) Naked Mole-rat (261) All
Genes (280)

Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

associated with Premature Birth;DNA:polymorphism:promoter:-6G>A (human)

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135

G

arginine vasopressin receptor 1A

associated with Hypertension, Portal

NCBI chr10:6,266,217...6,269,662
Ensembl chr10:6,265,998...6,269,662

G

bradykinin receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407

G

BCL2 interacting protein 3

protein:increased expression:heart left ventricle

NCBI chr28:40,037,681...40,050,499
Ensembl chr28:40,038,643...40,049,797

G

caveolin 1

protein:decreased expression:myocardium

NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935

G

crystallin alpha B

associated with Wounds and Injuries;protein:decreased phosphorylation:heart

NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132

G

cytochrome P450 2C41

CTD Direct Evidence: marker/mechanism

PMID:18429757 PMID:18756910 PMID:20597268 PMID:25521356 PMID:27581200

G

ectonucleoside triphosphate diphosphohydrolase 1

NCBI chr28:9,181,851...9,311,835
Ensembl chr28:9,211,050...9,323,939

G

EPH receptor A7

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,134,775...52,305,163
Ensembl chr12:52,137,605...52,305,162

G

coagulation factor X

NCBI chr22:60,585,563...60,597,027
Ensembl chr22:60,571,822...60,597,024

G

coagulation factor XIII A chain

NCBI chr35:6,186,750...6,347,522
Ensembl chr35:6,187,235...6,349,773

G

coagulation factor II, thrombin

associated with Wounds and Injuries
CTD Direct Evidence: marker/mechanism

PMID:7740448 PMID:9636195 PMID:20664909 PMID:23481505

RGD:10449431 RGD:10449433 RGD:734956

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

coagulation factor III, tissue factor

NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607

G

coagulation factor V

ClinVar Annotator: match by term: Hemorrhage

PMID:25741868 PMID:28492532 PMID:34355501

NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296

G

coagulation factor VII

CTD Direct Evidence: therapeutic

PMID:12707733 PMID:12851533 PMID:16553518

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

coagulation factor VIII

treatment

ClinVar Annotator: match by term: Hemorrhage

PMID:6438527 PMID:7728145 PMID:7984443 PMID:11442643 PMID:15921397 More...

NCBI chr X:122,894,974...123,046,343
Ensembl chr X:122,885,162...123,043,414

G

FERM domain containing kindlin 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667

G

fibrinogen gamma chain

ClinVar Annotator: match by term: Hemorrhage

NCBI chr15:52,261,215...52,270,077
Ensembl chr15:52,261,217...52,269,964

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

GATA binding protein 2

NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991

G

GATA binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989

G

GATA binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:65,932,114...65,962,574

G

heat shock protein family D (Hsp60) member 1

associated with Wounds and Injuries;mRNA, protein:decreased expression:heart

NCBI chr37:7,010,421...7,025,912

G

interleukin 11

CTD Direct Evidence: therapeutic

NCBI chr 1:102,311,960...102,319,102
Ensembl chr 1:102,316,105...102,318,653

G

interleukin 1 alpha

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

integrin subunit beta 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451

G

NAD(P)H quinone dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

purinergic receptor P2Y12

CTD Direct Evidence: marker/mechanism

NCBI chr23:45,908,574...45,954,675
Ensembl chr23:45,909,485...45,910,526

G

phosphatidylinositol 4-kinase alpha

ClinVar Annotator: match by term: Hemorrhage

NCBI chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126

G

plasminogen activator, tissue type

CTD Direct Evidence: marker/mechanism

PMID:2514002 PMID:8082347 PMID:8427107 PMID:9199818 PMID:9266785 More...

NCBI chr16:23,469,590...23,496,013

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism

PMID:8225663 PMID:9266785 PMID:15502123 PMID:15557913

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

podocalyxin like

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,614,006...5,625,360
Ensembl chr14:5,590,478...5,625,360

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:1267567 PMID:3014908

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

G

prostaglandin-endoperoxide synthase 1

ClinVar Annotator: match by term: Hemorrhage

NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435

G

serpin family D member 1

ClinVar Annotator: match by term: Hemorrhage

NCBI chr26:30,686,074...30,697,437
Ensembl chr26:30,686,663...30,693,848

G

serpin family E member 1

treatment

ClinVar Annotator: match by term: Hemorrhage

PMID:9263399 PMID:25741868

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

serpin family F member 2

DNA:missense mutation:cds:p.V384M (human)

NCBI chr 9:45,876,076...45,883,777
Ensembl chr 9:45,877,495...45,883,036

G

syntaxin binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517

G

TNF receptor superfamily member 8

CTD Direct Evidence: therapeutic

NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

vitamin K epoxide reductase complex subunit 1

CTD Direct Evidence: marker/mechanism

PMID:20597268 PMID:26445138

NCBI chr 6:17,140,565...17,142,621
Ensembl chr 6:17,140,633...17,142,547

G

von Willebrand factor

ClinVar Annotator: match by term: Hemorrhage

PMID:16985174 PMID:18230755 PMID:18344424 PMID:19506353 PMID:22995991 More...

NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142

Acute Subdural Hematoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythropoietin

treatment

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

coagulation factor VII

CTD Direct Evidence: therapeutic

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

potassium calcium-activated channel subfamily N member 4

treatment

NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701

APP-related cerebral amyloid angiopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amyloid beta precursor protein

ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related

PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More...

NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337

autoimmune thrombocytopenic purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

CTD Direct Evidence: marker/mechanism

NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295

G

albumin

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

B9 domain containing 2

disease_progression

mRNA:increased expression: :
protein:decreased expression:plasma:

PMID:11886393 PMID:24763013 PMID:24801815

RGD:11073598 RGD:11073600 RGD:11073603

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

CD40 molecule

protein:increased expression:peripheral blood, B lymphocyte (human)

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

CD40 ligand

treatment

protein:decreased expression:serum (mouse)
protein:increased expression:peripheral blood, T lymphocyte (human)

PMID:16188945 PMID:17654056 PMID:18341638 PMID:22537155

RGD:11344977 RGD:11344980 RGD:11352237 RGD:11352267

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

CD86 molecule

treatment

protein:increased expression:peripheral blood mononuclear cell (human)

PMID:19379594 PMID:20581660

RGD:11354966 RGD:11520785

NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087

G

major histocompatibility complex, class II, DQ beta 1

treatment

DNA:polymorphisms:cds:HLA-DQB1*0401 (human)

NCBI chr12:2,305,307...2,307,711

G

DNA methyltransferase 3 alpha

mRNA:decreased expression:mononuclear cell

NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902

G

DNA methyltransferase 3 beta

susceptibility

DNA:SNP:promoter: -579G>T(human)
mRNA:decreased expression:mononuclear cell

PMID:18683034 PMID:23000068

RGD:9588662 RGD:9589094

NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900

G

Fas cell surface death receptor

protein:increased expression:serum:

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

Fc fragment of IgG receptor IIb

treatment
disease_progression

DNA:SNP: :p.I232T (human)

PMID:15566359 PMID:19549396 PMID:21045192 PMID:21131591 PMID:22257295

RGD:11040933 RGD:11344927 RGD:11344928 RGD:11344931 RGD:11344955

NCBI chr38:20,980,777...20,994,403

G

glycoprotein Ib platelet subunit alpha

NCBI chr 5:31,681,605...31,683,261

G

MHC class II DLA DRB1 beta chain

treatment

DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human)

NCBI chr12:2,151,409...2,164,564

G

interleukin 10

disease_progression

DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
DNA:SNP:promoter:-627C>A (human)

PMID:22677268 PMID:25051072

RGD:11041894 RGD:11046267

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 18

protein:increased expression:plasma:

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 alpha

DNA:SNP:promoter:-899C>T (human)

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 receptor antagonist

susceptibility

DNA:repeats::

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 2

susceptibility

DNA:polymorphism::-330T>G(human)

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 4

disease_progression

DNA:repeat:intron

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

integrin subunit beta 3

PMID:10936026 PMID:24258817

RGD:10755473 RGD:10755475

NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451

G

low affinity immunoglobulin gamma Fc region receptor III

treatment
susceptibility

DNA:SNP:exon:p.F158V (rs396991) (human)
DNA:SNP:cds:p.V158F(human)

PMID:11380443 PMID:15479722 PMID:22123287 PMID:23484707

RGD:11040776 RGD:11040989 RGD:11344926 RGD:11352255

NCBI chr38:21,054,870...21,060,948

G

microRNA mir-130a

RNA:decreased expression:PBMC

NCBI chr18:38,543,618...38,543,679
Ensembl chr18:38,543,618...38,543,681

G

microRNA mir-409

treatment

NCBI chr 8:69,293,782...69,293,835

G

plasminogen activator, tissue type

protein:increased expression:plasma (human)

NCBI chr16:23,469,590...23,496,013

G

protein tyrosine phosphatase non-receptor type 22

no_association

DNA:snp:cds:c.1858C>T (rs2476601) (human)
DNA: snp: cds: C1858T

PMID:21597364 PMID:27309885

RGD:11535019 RGD:6484673

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

suppressor of cytokine signaling 1

ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura

PMID:32853638 PMID:33087723

NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557

Basal Ganglia Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gelsolin

severity

protein:decreased expression:blood plasma (human)

NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129

benign familial hematuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria

PMID:2557550 PMID:9536098 PMID:11134255 PMID:11961012 PMID:12028435 More...

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria

PMID:8787673 PMID:9536098 PMID:9792860 PMID:11961012 PMID:12325029 More...

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Familial hematuria

PMID:25741868 PMID:28492532 PMID:29764427

NCBI chr24:46,315,008...46,351,279

G

myosin IE

ClinVar Annotator: match by term: Microscopic hematuria

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr30:24,067,622...24,265,567
Ensembl chr30:24,068,283...24,265,311

G

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Microscopic hematuria

PMID:25741868 PMID:28492532

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Microscopic hematuria

NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770

G

WT1 transcription factor

ClinVar Annotator: match by term: Microscopic hematuria

PMID:9108089 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

Benign Familial Hematuria 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Hematuria, benign familial, 1

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: COL4A4-related condition | ClinVar Annotator: match by term: Hematuria, benign familial, 1

PMID:9536098 PMID:9792860 PMID:12325029 PMID:12631110 PMID:14871398 More...

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

Benign Familial Hematuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 3 chain

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

brain small vessel disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage

PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 More...

NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666

G

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage

NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825

Cerebral Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to

PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More...

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

annexin A1

mRNA:increased expression:brain

NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011

G

apurinic/apyrimidinic endodeoxyribonuclease 1

NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422

G

apolipoprotein E

DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human)

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

aquaporin 4

NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089

G

BCL2 associated X, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

G

brain derived neurotrophic factor

NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480

G

beclin 1

protein:increased expression:basal ganglion

NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236

G

BCL2 interacting protein 3 like

NCBI chr25:31,133,512...31,149,750
Ensembl chr25:31,136,168...31,148,905

G

complement C3

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

caspase 12

treatment

NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683

G

caspase 3

ameliorates
treatment

CTD Direct Evidence: marker/mechanism

PMID:17971790 PMID:28096675 PMID:31376096

RGD:13782306 RGD:329337378

NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505

G

caspase 8

treatment

CTD Direct Evidence: marker/mechanism

PMID:17971790 PMID:28096675

NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822

G

caspase 9

treatment

NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484

G

CD14 molecule

mRNA:increased expression:lung, intestine:

NCBI chr 2:35,790,505...35,792,967

G

CD36 molecule (CD36 blood group)

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

complement factor H

severity

NCBI chr38:2,878,677...2,956,226

G

ciliary neurotrophic factor

CTD Direct Evidence: therapeutic

NCBI chr18:37,758,148...37,765,698

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to

PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More...

NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666

G

collagen type IV alpha 2 chain

susceptibility

ClinVar Annotator: match by term: COL4A2-Related Disorder | ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to
DNA:SNPs::

ClinVar
RGD
OMIM

PMID:22209247 PMID:22333902 PMID:22914737 PMID:24390199 PMID:24646874 More...

NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297

G

colony stimulating factor 3

treatment

NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108

G

C-X-C motif chemokine receptor 4

treatment

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

dystroglycan 1

NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550

G

doublecortin

protein:increased expression:dentate gyrus

NCBI chr X:84,408,762...84,541,157
Ensembl chr X:84,408,895...84,517,827

G

coagulation factor XI

ClinVar Annotator: match by term: Cerebral hemorrhage

PMID:23929304 PMID:27067486 PMID:28492532 PMID:34776502

NCBI chr16:44,469,609...44,492,833
Ensembl chr16:44,469,632...44,540,292

G

coagulation factor XIII A chain

NCBI chr35:6,186,750...6,347,522
Ensembl chr35:6,187,235...6,349,773

G

coagulation factor II, thrombin

severity

protein:increased expression:plasma

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

coagulation factor VII

treatment

CTD Direct Evidence: therapeutic
human protein in a rat model

PMID:16671457 PMID:21127298

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

fms related receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain:

NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621

G

FTO alpha-ketoglutarate dependent dioxygenase

protein:increased expression:thalamic complex

NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059

G

glycoprotein VI platelet

ameliorates

associated with hypertension

NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

heme oxygenase 2

CTD Direct Evidence: therapeutic

NCBI chr 6:36,881,073...36,898,062
Ensembl chr 6:36,881,506...36,898,042

G

interferon beta 1

exacerbates

NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855

G

interleukin 1 beta

ameliorates

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

treatment

human gene in a rat model
mRNA:increased expression:striatum (rat)

PMID:14753487 PMID:22707991

RGD:6997504 RGD:8551833

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 6

ameliorates

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

integrin subunit alpha 2b

CTD Direct Evidence: marker/mechanism

NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992

G

integrin subunit alpha V

CTD Direct Evidence: marker/mechanism

PMID:9445356 PMID:16102435

NCBI chr36:28,815,215...28,890,569
Ensembl chr36:28,804,013...28,887,430

G

integrin subunit beta 2

NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018

G

integrin subunit beta 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to

NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825

G

kinase insert domain receptor

CTD Direct Evidence: marker/mechanism

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

lipocalin 2

NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038

G

microtubule associated protein 1 light chain 3 alpha

NCBI chr24:23,672,343...23,673,937
Ensembl chr24:23,633,579...23,673,921

G

microRNA mir-140

ameliorates

NCBI chr 5:79,814,256...79,814,316
Ensembl chr 5:79,814,246...79,814,326

G

microRNA mir-152

treatment

NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225

G

microRNA mir-23a

ameliorates

RNA:increased expression:serum

PMID:29771433 PMID:33403590

RGD:155882539 RGD:155882557

NCBI chr20:48,620,335...48,620,386
Ensembl chr20:48,620,323...48,620,397

G

matrix metallopeptidase 12

PMID:12783419 PMID:15654856

RGD:1582358 RGD:1582362

NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:14630814 PMID:15488484 PMID:15529013 PMID:16190367 PMID:17021183 More...

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

metallothionein 1H

mRNA:increased expression:cerebral cortex, striatum (rat)

NCBI chr 2:59,607,926...59,608,825
Ensembl chr 2:59,607,927...59,626,727

G

mechanistic target of rapamycin kinase

treatment

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

nuclear factor kappa B subunit 1

protein:increased activity:striatum

NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703

G

nuclear factor kappa B subunit 2

protein:increased activity:striatum

NCBI chr28:14,902,212...14,910,437
Ensembl chr28:14,902,706...14,910,395

G

NFKB inhibitor alpha

protein:increased phosphorylation:brain

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

natriuretic peptide B

CTD Direct Evidence: therapeutic

NCBI chr 2:84,395,844...84,397,473

G

neuropeptide Y

protein:increased expression:plasma (rat)

NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443

G

NAD(P)H quinone dehydrogenase 1

treatment

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

plasminogen activator, tissue type

severity
treatment

associated with Brain Injuries
human protein in a rat model
CTD Direct Evidence: marker/mechanism

PMID:1430592 PMID:1579960 PMID:1899364 PMID:7477192 PMID:7723950 More...

RGD:11537477 RGD:11541064

NCBI chr16:23,469,590...23,496,013

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism

PMID:1265806 PMID:8025938 PMID:9731615 PMID:15181847 PMID:17702958

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to

PMID:25741868 PMID:28492532

NCBI chr 6:8,664,135...8,671,637
Ensembl chr 6:8,664,358...8,671,620

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

G

presenilin 1

NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:neuron, astrocyte, blood vessel

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

RAD21 cohesin complex component

severity

NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035

G

RELA proto-oncogene, NF-kB subunit

protein:increased activity:striatum

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

RELB proto-oncogene, NF-kB subunit

mRNA, protein:increased expression, increased activity:striatum

NCBI chr 1:110,436,677...110,466,709
Ensembl chr 1:110,436,662...110,466,809

G

S100 calcium binding protein B

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:19027832 PMID:19505208

NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183

G

serpin family A member 3

NCBI chr 8:63,588,188...63,596,955
Ensembl chr 8:63,587,891...63,596,954

G

serpin family C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987

G

solute carrier family 24 member 1

mRNA, protein:decreased expression:cerebrum

NCBI chr30:29,967,762...29,996,762
Ensembl chr30:29,967,762...29,995,005

G

solute carrier family 8 member B1

NCBI chr26:10,662,491...10,688,182
Ensembl chr26:10,662,208...10,687,629

G

secreted phosphoprotein 1

CTD Direct Evidence: therapeutic

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

sequestosome 1

protein:decreased expression:basal ganglion

NCBI chr11:1,859,776...1,869,289
Ensembl chr11:1,859,465...1,870,755

G

thrombospondin 1

NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915

G

thrombospondin 2

NCBI chr 1:56,402,519...56,429,975
Ensembl chr 1:56,402,524...56,451,892

G

tumor necrosis factor

ameliorates

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

Drug-Induced Immune Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 2

susceptibility

associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human)

NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740

G

dihydropyrimidine dehydrogenase

treatment

associated with Stomach Neoplasms
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)

PMID:19473056 PMID:23064955

RGD:11098817 RGD:11251740

NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923

G

interleukin 1 alpha

treatment

associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms

PMID:7666093 PMID:8151314

RGD:11051963 RGD:11051964

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 beta

treatment

associated with Glioblastoma;

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

platelet and endothelial cell adhesion molecule 1

severity

PMID:10942385 PMID:17234740

RGD:11541093 RGD:11541120

NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778

Epistaxis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Epistaxis

PMID:11484689 PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 More...

NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469

G

endoglin

ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis

PMID:15879500 PMID:16542389 PMID:28492532 PMID:30251589

NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064

Gastrointestinal Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993

G

arginine vasopressin

CTD Direct Evidence: therapeutic

NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

G

checkpoint kinase 2

ClinVar Annotator: match by term: Hematochezia

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959

G

filamin A

ClinVar Annotator: match by term: Hematochezia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr X:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203

G

lactotransferrin

CTD Direct Evidence: therapeutic

NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202

G

serpin family E member 1

ClinVar Annotator: match by term: Gastrointestinal hemorrhage

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

von Willebrand factor

protein:increased expression: :

NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142

hemarthrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

associated with Hemophilia A;protein:increased expression:synovial fluid (mouse)

NCBI chr 9:39,008,187...39,009,932

G

coagulation factor VIII

treatment

NCBI chr X:122,894,974...123,046,343
Ensembl chr X:122,885,162...123,043,414

G

interleukin 6

treatment

associated with Hemophilia A

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

Hematoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD36 molecule (CD36 blood group)

treatment

associated with Cerebral Hemorrhage

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

S100 calcium binding protein B

associated with Stroke;protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

PMID:19027832 PMID:19147496

NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183

Hematuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

asparaginase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,747,319...71,764,570
Ensembl chr 8:71,753,164...71,765,349

G

complement C3

protein:increased expression:renal arteriole:

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria

PMID:8956999 PMID:16199547 PMID:24052634 PMID:24854265 PMID:25307543 More...

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Hematuria

PMID:24052634 PMID:24854265 PMID:25741868 PMID:26809805 PMID:28492532 More...

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

G

collagen type IV alpha 5 chain

onset

ClinVar Annotator: match by term: Hematuria

PMID:9150741 PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 More...

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

cytochrome P450 family 1 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

coagulation factor VII

CTD Direct Evidence: therapeutic

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Macroscopic hematuria

NCBI chr24:46,315,008...46,351,279

G

LIM homeobox transcription factor 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:1267567 PMID:1324751

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

Hemophilic Arthropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor VIII

treatment

NCBI chr X:122,894,974...123,046,343
Ensembl chr X:122,885,162...123,043,414

Hemorrhagic Shock

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin

treatment

PMID:15973109 PMID:18403050

RGD:7364987 RGD:7364990

NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495

G

angiopoietin 1

NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618

G

arginase 2

protein:increased expression:aorta (rat)

NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402

G

B9 domain containing 2

treatment

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

BCL2 associated agonist of cell death

protein:decreased serine phosphorylation:lung

NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405

G

BCL2 apoptosis regulator

mRNA:increased expression:intestine

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

BCL2 like 1

protein:increased expression:liver, mitochondrion

NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355

G

caspase 3

associated with Brain Injuries, Traumatic

NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505

G

caspase 8

associated with Brain Injuries, Traumatic

NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822

G

complement factor H

treatment

PMID:15973109 PMID:18403050 PMID:18496585

RGD:11041173 RGD:7364987 RGD:7364990

NCBI chr38:2,878,677...2,956,226

G

cannabinoid receptor 1

mRNA, protein:increased expression:aorta, mesenteric artery

NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983

G

cullin 5

mRNA:altered expression:brain

NCBI chr 5:24,393,692...24,477,595
Ensembl chr 5:24,396,823...24,488,043

G

erythropoietin

treatment

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

estrogen receptor 1

severity

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

estrogen receptor 2

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

coagulation factor II, thrombin

protein:decreased activity:blood (rat)

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

coagulation factor VIII

protein:decreased expression:plasma

NCBI chr X:122,894,974...123,046,343
Ensembl chr X:122,885,162...123,043,414

G

growth factor, augmenter of liver regeneration

NCBI chr 6:38,948,927...38,951,300
Ensembl chr 6:38,949,484...38,951,703

G

gap junction protein alpha 1

NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936

G

gap junction protein alpha 5

NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315

G

glutamate-ammonia ligase

treatment

NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241

G

glutamic--pyruvic transaminase

treatment

NCBI chr13:37,923,757...37,927,843
Ensembl chr13:37,924,422...37,926,156

G

heme oxygenase 1

severity

PMID:20514418 PMID:20819606

RGD:10755719 RGD:10755727

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

intercellular adhesion molecule 1

mRNA, protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism

PMID:19828841 PMID:21192278

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interferon gamma

protein:increased expression:plasma

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 10

protein:increased expression:serum, lymph

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 18

protein:increased expression:plasma

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 alpha

mRNA:increased expression:lung

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 beta

severity

protein:increased expression:kidney, serum (rat)
mRNA:increased expression:lung

PMID:15580020 PMID:17545943 PMID:21336199

RGD:1626655 RGD:2311100 RGD:7175325

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 4

treatment

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism

PMID:21168948 PMID:21192278

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

mitogen-activated protein kinase 1

protein: increased expression: lung and liver

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

matrix metallopeptidase 9

treatment

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820

G

mechanistic target of rapamycin kinase

treatment

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

MYC proto-oncogene, bHLH transcription factor

treatment

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

NFKB inhibitor alpha

treatment

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

nitric oxide synthase 2

mRNA, protein:increased expression:multiple

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

nitric oxide synthase 3

treatment

mRNA:increased expression: :multiple

PMID:15854664 PMID:29122552

RGD:13450929 RGD:1580937

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

ornithine transcarbamylase

protein:increased activity:serum (rat)

NCBI chr X:33,130,921...33,200,441
Ensembl chr X:33,131,040...33,199,595

G

RELA proto-oncogene, NF-kB subunit

protein:increased phosphorylation, altered location:nucleus, endothelial cell, lung
protein:increased phosphorylation:nucleus, liver

PMID:17950078 PMID:17950083 PMID:18469645

RGD:2298781 RGD:2298841 RGD:2298842

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

sirtuin 1

treatment

protein:decreased expression:heart left ventricle

PMID:21554952 PMID:22113495

RGD:7240568 RGD:9585770

NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279

G

solute carrier family 9 member A1

CTD Direct Evidence: marker/mechanism

PMID:17724433 PMID:19384202

NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364

G

superoxide dismutase 2

treatment

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

transcription factor A, mitochondrial

NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058

G

TIMP metallopeptidase inhibitor 1

treatment

NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310

G

toll like receptor 4

severity

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

tumor necrosis factor

treatment

CTD Direct Evidence: marker/mechanism

PMID:21192278 PMID:24315526

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

triggering receptor expressed on myeloid cells 1

ameliorates

NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236

G

von Willebrand factor

protein:decreased expression:plasma

NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142

Henoch-Schoenlein purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

disease_progression

DNA:deletion:intron:IVS16+1464-1751del (human)

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

angiotensinogen

severity

DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)

PMID:16521052 PMID:20702504

RGD:11039045 RGD:11039055

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

complement C3

CTD Direct Evidence: marker/mechanism

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

C-C motif chemokine ligand 2

susceptibility

protein:increased expression:serum (human)
DNA:snp:promoter:g.-2518C>T (human)

PMID:25839768 PMID:26234573

RGD:11522500 RGD:11528567

NCBI chr 9:39,008,187...39,009,932

G

CD86 molecule

treatment

protein:increased expression:venous blood, B cell (human)

NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087

G

heme oxygenase 1

protein:increased expression:serum

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

insulin like growth factor 1

protein:increased expression:serum

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

interleukin 1 receptor antagonist

DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 27

mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)"

NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635

G

interleukin 5

protein:increased expression:serum

NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269

G

kininogen 1

protein:increased expression:serum

NCBI chr34:19,288,629...19,318,096
Ensembl chr34:19,287,109...19,318,081

G

MEFV innate immunity regulator, pyrin

susceptibility

DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)

PMID:20602240 PMID:22451026 PMID:25232290

RGD:11531116 RGD:7349346 RGD:7349347

NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737

G

plasminogen activator, tissue type

protein:increased expression:plasma (human)

NCBI chr16:23,469,590...23,496,013

G

plasminogen activator, urokinase

CTD Direct Evidence: therapeutic

PMID:9002298 PMID:12671112

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

paraoxonase 1

susceptibility

DNA:missense mutations:cds:p.L55M, p.Q192R (human)

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

Heparin-induced Thrombocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

no_association

DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
DNA:repeats, haplotype:promoter

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

low affinity immunoglobulin gamma Fc region receptor III

susceptibility

DNA:SNP:cds:p.V158F(human)

NCBI chr38:21,054,870...21,060,948

Intracranial Hemorrhages

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Intracranial Hemorrhages

PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More...

NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666

G

coagulation factor VII

CTD Direct Evidence: therapeutic

PMID:15595332 PMID:16159073 PMID:18617125 PMID:20172985 PMID:20522813

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

heat shock protein family B (small) member 1

protein:increased expression:brain:

NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576

G

interleukin 6

susceptibility

DNA:polymorphism:promoter -174G>C(human)

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

serotransferrin

associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia

NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845

G

hemoglobin subunit beta-like

mRNA:increased expression:basal ganglion, neuron, glial cell

NCBI chr21:28,187,535...28,188,991

G

nitric oxide synthase 3

treatment

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Intracranial Hemorrhages

NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035

G

plasminogen activator, tissue type

CTD Direct Evidence: marker/mechanism

PMID:2104561 PMID:3168586 PMID:7902905 PMID:8961984 PMID:11320361 More...

NCBI chr16:23,469,590...23,496,013

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism

PMID:10392865 PMID:10472989 PMID:10512912 PMID:17308290 PMID:21779364

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

protein phosphatase 1 regulatory inhibitor subunit 1B

NCBI chr 9:22,838,198...22,847,924
Ensembl chr 9:22,838,576...22,848,142

G

presenilin 1

NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532

G

serpin family G member 1

treatment

associated with Stroke

NCBI chr18:38,570,354...38,580,751
Ensembl chr18:38,570,607...38,581,665

G

SHOC2 leucine rich repeat scaffold protein

mRNA:decreased expression:brain:

NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545

G

solute carrier family 23 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:34,694,064...34,708,498
Ensembl chr 2:34,698,838...34,708,412

G

tumor necrosis factor

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

UbiA prenyltransferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,803,338...84,813,030
Ensembl chr 2:84,804,935...84,813,344

Intracranial Subdural Hematoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein VI platelet

exacerbates

NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905

G

MDM2 proto-oncogene

treatment

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

G

zinc finger E-box binding homeobox 2

treatment

protein:increased expression:brain (rat)

NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122

Intraventricular Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-secretase 1

protein:increased expression:hippocampus

NCBI chr 5:16,308,953...16,319,100
Ensembl chr 5:16,308,944...16,319,100

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Intraventricular hemorrhage

PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More...

NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666

G

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Intraventricular hemorrhage

PMID:25741868 PMID:33527515

NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297

G

interleukin 6

associated with Premature Birth;protein:increased expression:serum:

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

Peptic Ulcer Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

cytochrome P450 2C41

CTD Direct Evidence: marker/mechanism

pituitary apoplexy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

corticotropin releasing hormone

CTD Direct Evidence: marker/mechanism

PMID:12699433 PMID:12699434

NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384

platelet-type bleeding disorder 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein VI platelet

ClinVar Annotator: match by term: Platelet-type bleeding disorder 11

PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 More...

NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905

Platelet-Type Bleeding Disorder 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 5

ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation

NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773

G

thromboxane A2 receptor

susceptibility

ClinVar Annotator: match by term: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 13, susceptibility to | ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation

PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More...

NCBI chr20:55,819,866...55,829,395
Ensembl chr20:55,824,410...55,828,980

platelet-type bleeding disorder 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 1

ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15

PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More...

NCBI chr 8:42,714,806...42,808,318
Ensembl chr 8:42,712,142...42,808,323

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia

PMID:23809206 PMID:26316623

NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822

platelet-type bleeding disorder 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition

PMID:24958846 PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 More...

NCBI chr18:52,412,331...52,426,910
Ensembl chr18:52,412,367...52,426,916

platelet-type bleeding disorder 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

schlafen family member 14

ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition

PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 More...

NCBI chr 9:38,091,939...38,112,042
Ensembl chr 9:38,100,691...38,110,695

Platelet-Type Bleeding Disorder 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21

PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 More...

NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822

platelet-type bleeding disorder 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 12L

ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8

PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More...

NCBI chr23:45,701,890...45,987,504
Ensembl chr23:45,708,417...45,987,175

G

purinergic receptor P2Y12

Bleeding disorder, P2RY12-related
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8

OMIM
OMIA
ClinVar

PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:21554368 More...

NCBI chr23:45,908,574...45,954,675
Ensembl chr23:45,909,485...45,910,526

platelet-type bleeding disorder 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 2

ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9

PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532

NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983

G

molybdenum cofactor synthesis 2

ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9

NCBI chr 4:62,153,828...62,164,154
Ensembl chr 4:62,153,296...62,185,492

Posttransfusion Purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 3

susceptibility

ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM

PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More...

NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451

Preterm Intraventricular Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCR4-NOT transcription complex subunit 1

ClinVar Annotator: match by term: Preterm intraventricular hemorrhage

NCBI chr 2:58,038,456...58,138,364
Ensembl chr 2:58,038,483...58,137,622

G

gelsolin

protein:decreased expression:blood plasma (human)

NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129

G

semaphorin 6B

ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage

NCBI chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135

Pulmonary Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastase, neutrophil expressed

associated with Pancreatitis, Experimental, sepsis;

NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932

G

presenilin 2

NCBI chr 7:38,147,157...38,163,023
Ensembl chr 7:38,147,173...38,166,722

purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 13

susceptibility

associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human)

NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388

purpura fulminans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein C, inactivator of coagulation factors Va and VIIIa

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563

retinal arterial tortuosity

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of

PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More...

NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Retinal arterial tortuosity

NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825

Spinal Epidural Hematoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plasminogen activator, tissue type

CTD Direct Evidence: marker/mechanism

PMID:10914357 PMID:12227717

NCBI chr16:23,469,590...23,496,013

Subarachnoid Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

treatment

NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:cerebrospinal fluid

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

adenosine A1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051

G

advanced glycosylation end-product specific receptor

mRNA, protein:increased expression:brain

NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129

G

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,104,350...1,106,179
Ensembl chr12:1,104,394...1,106,177

G

aquaporin 4

exacerbates

mRNA:increased expression:brain:

NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089

G

BCL2 apoptosis regulator

treatment

NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658

G

beclin 1

protein:increased expression:brain

NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236

G

BCL2 interacting protein 3

treatment

NCBI chr28:40,037,681...40,050,499
Ensembl chr28:40,038,643...40,049,797

G

complement C3

treatment

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

caspase 3

treatment

CTD Direct Evidence: marker/mechanism

PMID:24602480 PMID:26163325

NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505

G

caspase 9

treatment

NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484

G

C-C motif chemokine ligand 20

mRNA:increased expression:cerebral artery

NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709

G

cytochrome b-245 beta chain

Protein:increased expression:cerebral cortex
mRNA:increased expression:cerebral vessel:

PMID:12142572 PMID:16671452

RGD:11040582 RGD:1599680

NCBI chr X:32,533,365...32,568,149
Ensembl chr X:32,533,320...32,568,217

G

cytochrome P450, family 3, subfamily A, polypeptide 4

DNA:snp:cds:p.I118V (human)

NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352

G

DNA damage inducible transcript 3

treatment

NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

endothelin receptor type B

CTD Direct Evidence: marker/mechanism

NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587

G

erythropoietin

treatment

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

erb-b2 receptor tyrosine kinase 4

treatment

NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426

G

endoplasmic reticulum to nucleus signaling 1

treatment

PMID:29169414 PMID:30226536

RGD:34901873 RGD:35316073

NCBI chr 9:11,930,614...12,006,724
Ensembl chr 9:11,934,965...12,006,814

G

estrogen receptor 1

protein:increased expression:dentate gyrus

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

GLI family zinc finger 1

mRNA, protein:increased expression:brain

NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982

G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010

G

glycogen synthase kinase 3 beta

treatment

NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666

G

gelsolin

disease_progression
severity

mRNA, protein:altered expression:cerebral cortex (rat)
protein:decreased expression:blood plasma (human)

PMID:23880145 PMID:25744577

RGD:11055426 RGD:329333027

NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129

G

hyperpolarization activated cyclic nucleotide gated potassium channel 1

mRNA,protein:decreased expression:hippocampus:

NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444

G

hypoxia inducible factor 1 subunit alpha

protein:increased expression:brain

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

heme oxygenase 1

mRNA:increased expression:subarachnoid space

PMID:14657544 PMID:16543643 PMID:19686725

RGD:1582702 RGD:1598406 RGD:4145300

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

heat shock protein family D (Hsp60) member 1

mRNA:increased expression:brain stem

NCBI chr37:7,010,421...7,025,912

G

5-hydroxytryptamine receptor 1B

NCBI chr12:38,659,088...38,659,546

G

intercellular adhesion molecule 1

mRNA:increased expression:lung (rat)

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

rat model treated with human protein

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interferon regulatory factor 9

ameliorates

NCBI chr 8:4,152,146...4,157,201

G

potassium inwardly rectifying channel subfamily J member 10

treatment

NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813

G

lipocalin 2

ameliorates

NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038

G

mitogen-activated protein kinase kinase kinase 5

treatment

NCBI chr 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503

G

mitogen-activated protein kinase kinase kinase 7

treatment

NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850

G

matrix metallopeptidase 1

no_association

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

G

matrix metallopeptidase 13

NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121

G

matrix metallopeptidase 2

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

PMID:17410600 PMID:27157545

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

NFE2 like bZIP transcription factor 2

treatment

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

neuroglobin

protein:increased expression:cerebral cortex

NCBI chr 8:50,081,960...50,086,071
Ensembl chr 8:50,081,960...50,085,435

G

nemo like kinase

disease_progression

NCBI chr 9:42,399,930...42,557,065
Ensembl chr 9:42,400,219...42,556,904

G

nitric oxide synthase 2

mRNA:increased expression:brainstem, basilar artery (mouse)
CTD Direct Evidence: marker/mechanism

PMID:17053178 PMID:21915076

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

nitric oxide synthase 3

mRNA:increased expression:parietal cortex, arteriole (rat)

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

NAD(P)H quinone dehydrogenase 1

mRNA, protein:increased expression:brain

NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860

G

neuregulin 1

treatment

NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932

G

netrin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899

G

neurotrophic receptor tyrosine kinase 2

NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032

G

programmed cell death 10

protein:decreased expression:brain, microglial cell (rat)

NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445

G

platelet derived growth factor receptor beta

ameliorates

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

treatment

NCBI chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939

G

polycystin 1 like 1, transient receptor potential channel interacting

susceptibility

DNA:polymorphism:cds:p.Gly243Asp(human)

NCBI chr16:119,639...199,418

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

parkin RBR E3 ubiquitin protein ligase

treatment

NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764

G

patched 1

mRNA, protein:increased expression:brain

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

prostaglandin-endoperoxide synthase 2

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

sonic hedgehog signaling molecule

mRNA, protein:increased expression:brain

NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903

G

smoothened, frizzled class receptor

treatment

NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033

G

signal transducer and activator of transcription 3

mRNA, protein:increased expression, increased phosphorylation:cerebral artery

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

tachykinin receptor 1

NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971

G

tight junction protein 1

protein:altered localization

NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574

G

toll like receptor 4

mRNA, protein:increased expression:brain

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

transmembrane BAX inhibitor motif containing 6

treatment

mRNA,protein:decreased expression:brain

NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783

G

tenascin C

protein:increased expression:basilar artery

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism
protein:increased expression:brain

PMID:19719951 PMID:27157545

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

triggering receptor expressed on myeloid cells 1

severity
treatment

PMID:30910643 PMID:33727099

RGD:127284863 RGD:127284864

NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236

G

transient receptor potential cation channel subfamily M member 4

protein:increased expression:entorhinal cortex

NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346

G

unc-5 netrin receptor B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:22,003,131...22,084,107
Ensembl chr 4:22,003,131...22,081,744

G

Yes1 associated transcriptional regulator

treatment

NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251

Subdural Hematoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plasminogen activator, tissue type

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,469,590...23,496,013

Thrombocytopenic Purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein IX platelet

NCBI chr20:3,027,790...3,029,496

G

integrin subunit alpha 2b

NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992

G

integrin subunit beta 3

associated with HIV Infections

PMID:8565280 PMID:11493456

RGD:10755471 RGD:2316362

NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451

thrombotic thrombocytopenic purpura

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome

PMID:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 More...

NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295

G

CD36 molecule (CD36 blood group)

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphisms:cds:HLA-DQB1*0301 (human)

NCBI chr12:2,305,307...2,307,711

G

coagulation factor III, tissue factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607

G

protein C, inactivator of coagulation factors Va and VIIIa

NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563

G

tissue factor pathway inhibitor

treatment

CTD Direct Evidence: marker/mechanism

NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310

G

thrombomodulin

CTD Direct Evidence: marker/mechanism

NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649

Thrombotic Thrombocytopenic Purpura, Acquired

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

treatment

human protein in a rat model

PMID:9828246 PMID:26338302

RGD:10449039 RGD:10449097

NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295

G

von Willebrand factor

treatment

NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142

Traumatic Intracranial Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor VII

CTD Direct Evidence: therapeutic

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

Traumatic Subarachnoid Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

treatment

NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981

Uterine Hemorrhage

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XIII A chain

NCBI chr35:6,186,750...6,347,522
Ensembl chr35:6,187,235...6,349,773

Term paths to the root

Path 1
Term	Annotations
disease	15603
Pathological Conditions, Signs and Symptoms	12031
Pathologic Processes	7491
Hemorrhage	280
Bleeding Disorder Due To P2rx1 Defect	0
Circumvallate Placenta Syndrome	0
Ecchymosis	0
Epistaxis +	2
Exsanguination	0
Eye Hemorrhage +	3
Gastrointestinal Hemorrhage +	11
Hematoma +	9
Hematuria +	16
Hemobilia	0
Hemoperitoneum	0
Hemoptysis	0
Hemorrhagic Shock +	50
Hemothorax +	0
Intracranial Hemorrhages +	157
Oral Hemorrhage +	0
Platelet-Type Bleeding Disorder 13	2
Platelet-Type Bleeding Disorder 21	1
Postoperative Hemorrhage +	0
Pulmonary Hemorrhage +	2
Retrobulbar Hemorrhage	0
Surgical Blood Loss	0
Uterine Hemorrhage +	1
hemarthrosis +	3
hematocele of tunica vaginalis testis	0
platelet-type bleeding disorder 11	1
platelet-type bleeding disorder 15	2
platelet-type bleeding disorder 18	1
platelet-type bleeding disorder 19	0
platelet-type bleeding disorder 20	1
platelet-type bleeding disorder 8	2
platelet-type bleeding disorder 9	2
purpura +	51

paths to the root