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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:traumatic brain injury
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Accession:DOID:0081292 term browser browse the term
Definition:A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. (DO)
Synonyms:exact_synonym: Brain Trauma;   TBI (Traumatic Brain Injuries);   TBI (Traumatic Brain Injury);   TBIs (Traumatic Brain Injuries);   Traumatic Brain Injuries;   Traumatic Encephalopathies;   brain traumas;   traumatic encephalopathy
 primary_id: MESH:D000070642
 alt_id: DOID:9003061



show annotations for term's descendants           Sort by:
traumatic brain injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 IEP RGD PMID:22489706 RGD:13703033 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
JBrowse link
G App amyloid beta precursor protein treatment ISO RGD PMID:29320530 RGD:13782048 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Bad BCL2-associated agonist of cell death treatment IEP RGD PMID:24582457 RGD:13782254 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Capn1 calpain 1 IEP protein:increased expression:cytosol, plasma membrane RGD PMID:9469158 RGD:13792664 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
G Capn2 calpain 2 IEP RGD PMID:9469158 RGD:13792664 NCBI chr13:94,150,244...94,200,969
Ensembl chr13:94,150,240...94,200,969
JBrowse link
G Casp3 caspase 3 IEP protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Ccng1 cyclin G1 treatment IEP RGD PMID:24398934 PMID:18612315 RGD:151356934, RGD:151356935 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
JBrowse link
G Cd163 CD163 molecule IEP protein:increased expression:brain, macrophage (rat) RGD PMID:22583855 RGD:127285798 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:increased expression:brain (mouse) RGD PMID:31383034 RGD:124715446 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
JBrowse link
G Cit citron rho-interacting serine/threonine kinase IEP mRNA:decreased expression:cerebral cortex��(rat) RGD PMID:12503083 RGD:2317873 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:26435412 RGD:27095897 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 IEP protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 treatment IEP RGD PMID:26068867 RGD:401901590 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
JBrowse link
G Drd1 dopamine receptor D1 treatment IEP RGD PMID:24047867 RGD:13506948 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
JBrowse link
G Drd2 dopamine receptor D2 treatment IEP RGD PMID:24047867 RGD:13506948 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase IEP mRNA:decreased expression:cerebral cortex RGD PMID:31992337 RGD:329901857 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Fubp1 far upstream element binding protein 1 IEP RGD PMID:23797733 RGD:13673879 NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
JBrowse link
G Gnal G protein subunit alpha L IEP RGD PMID:29215295 RGD:13513923 NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:increased phosphorylation:central amygdaloid nucleus (rat) RGD PMID:30638118 RGD:405101698 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
JBrowse link
G Lama1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 IEP protein:increased expression:hippocampus: RGD PMID:28365875 RGD:13703062 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lcn2 lipocalin 2 IEP RGD PMID:31539545 RGD:126781751 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA
IEP
RGD PMID:28412141 PMID:25771151 PMID:26484783 PMID:26729399 RGD:13800902, RGD:13800917, RGD:13800912, RGD:13800909 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit IEP mRNA:decreased expression:cerebral cortex RGD PMID:31992337 RGD:329901857 NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:28804446 RGD:25314324 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Ncstn nicastrin ISO RGD PMID:18240300 RGD:13801189 NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IEP protein:increased expression:brain: RGD PMID:30855558 RGD:26884463 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Ngf nerve growth factor treatment IMP RGD PMID:26285082 RGD:402463964 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nox1 NADPH oxidase 1 IEP protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236
JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15829224 PMID:28642177 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pde10a phosphodiesterase 10A IEP RGD PMID:29215295 RGD:13513923 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pdyn prodynorphin IEP mRNA:increased expression:hippocampus RGD PMID:12626770 RGD:633616 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Phactr1 phosphatase and actin regulator 1 treatment ISO RGD PMID:36571365 RGD:401901253 NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha IEP RGD PMID:20713027 RGD:13830881 NCBI chr14:91,556,743...91,606,391
Ensembl chr14:91,604,121...91,606,907
JBrowse link
G Ppp3r2 protein phosphatase 3, regulatory subunit B, beta IEP RGD PMID:20713027 RGD:13830881 NCBI chr 5:64,026,903...64,027,898
Ensembl chr 5:64,026,903...64,032,548
JBrowse link
G Psen1 presenilin 1 ISO RGD PMID:18240300 RGD:13801189 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 PMID:28642177 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:28433746 RGD:14995478 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tp53 tumor protein p53 treatment IMP RGD PMID:27553877 RGD:14995939 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Ube4b ubiquitination factor E4B ISO CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509
JBrowse link
Brain Concussion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd2 dopamine receptor D2 IEP RGD PMID:26448536 RGD:13506960 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Drd3 dopamine receptor D3 IEP RGD PMID:26448536 RGD:13506960 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
JBrowse link
G Drd4 dopamine receptor D4 IEP RGD PMID:26448536 RGD:13506960 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
JBrowse link
G Il6 interleukin 6 treatment IDA RGD PMID:27113205 RGD:11062140 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
Brain Contusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp3 caspase 3 treatment IEP RGD PMID:28140659 RGD:13782305 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:28140659 RGD:13782305 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Wounds and Injuries 980
      Nervous System Trauma 601
        Craniocerebral Trauma 362
          Brain Injuries 289
            traumatic brain injury 55
              Brain Concussion + 4
              Brain Contusion 2
              Traumatic Brain Hemorrhage + 0
              chronic traumatic encephalopathy 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Nervous System Trauma 601
          Craniocerebral Trauma 362
            Brain Injuries 289
              traumatic brain injury 55
                Brain Concussion + 4
                Brain Contusion 2
                Traumatic Brain Hemorrhage + 0
                chronic traumatic encephalopathy 0
paths to the root