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
Accession: DOID:0081292
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ncstn
nicastrin
ISO
RGD
PMID:18240300
RGD:13801189
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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