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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


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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 ISO RGD PMID:22489706 RGD:13703033 NCBI chr30:23,605,724...23,732,038
Ensembl chr30:23,606,517...23,731,823 		JBrowse link
G APP amyloid beta precursor protein treatment ISO RGD PMID:29320530 RGD:13782048 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337 		JBrowse link
G B9D2 B9 domain containing 2 treatment ISO RGD PMID:28433746 RGD:14995478 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:24582457 RGD:13782254 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405 		JBrowse link
G CAPN1 calpain 1 ISO protein:increased expression:cytosol, plasma membrane RGD PMID:9469158 RGD:13792664 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757 		JBrowse link
G CAPN2 calpain 2 ISO RGD PMID:9469158 RGD:13792664 NCBI chr 7:40,333,379...40,367,158
Ensembl chr 7:40,334,012...40,377,037 		JBrowse link
G CASP3 caspase 3 ISO protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CCNG1 cyclin G1 treatment ISO RGD PMID:18612315 PMID:24398934 RGD:151356934 RGD:151356935 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211 		JBrowse link
G CD163 CD163 molecule ISO protein:increased expression:brain, macrophage (rat) RGD PMID:22583855 RGD:127285798 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106 		JBrowse link
G CD8A CD8 subunit alpha ISO mRNA:increased expression:brain (mouse) RGD PMID:31383034 RGD:124715446 NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO mRNA:decreased expression:cerebral cortex��(rat) RGD PMID:12503083 RGD:2317873 NCBI chr26:15,721,500...15,885,133
Ensembl chr26:15,723,690...15,884,343 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:26435412 RGD:27095897 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr28:2,895,916...2,903,543 JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 treatment ISO RGD PMID:26068867 RGD:401901590 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298 		JBrowse link
G DRD1 dopamine receptor D1 treatment ISO RGD PMID:24047867 RGD:13506948 NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287 		JBrowse link
G DRD2 dopamine receptor D2 treatment ISO RGD PMID:24047867 RGD:13506948 NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:decreased expression:cerebral cortex RGD PMID:31992337 RGD:329901857 NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059 		JBrowse link
G FUBP1 far upstream element binding protein 1 ISO RGD PMID:23797733 RGD:13673879 NCBI chr 6:68,923,215...68,963,766 JBrowse link
G GNAL G protein subunit alpha L ISO RGD PMID:29215295 RGD:13513923 NCBI chr 7:77,378,134...77,521,215
Ensembl chr 7:77,413,986...77,521,042 		JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:increased phosphorylation:central amygdaloid nucleus (rat) RGD PMID:30638118 RGD:405101698 NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G ITGB1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961 		JBrowse link
G LAMA1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 7:73,309,383...73,438,543
Ensembl chr 7:73,309,388...73,448,151 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO protein:increased expression:hippocampus: RGD PMID:28365875 RGD:13703062 NCBI chr  X:92,405,946...92,444,527
Ensembl chr  X:92,407,950...92,444,765 		JBrowse link
G LCN2 lipocalin 2 ISO RGD PMID:31539545 RGD:126781751 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038 		JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:25771151 PMID:26484783 PMID:26729399 PMID:28412141 RGD:13800902 RGD:13800909 RGD:13800912 RGD:13800917 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		JBrowse link
G METTL14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO mRNA:decreased expression:cerebral cortex RGD PMID:31992337 RGD:329901857 NCBI chr32:37,653,163...37,679,577
Ensembl chr32:37,653,035...37,678,398 		JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:28804446 RGD:25314324 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820 		JBrowse link
G NCSTN nicastrin ISO RGD PMID:18240300 RGD:13801189 NCBI chr38:21,878,071...21,891,362
Ensembl chr38:21,685,868...21,892,097 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO protein:increased expression:brain: RGD PMID:30855558 RGD:26884463 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
G NGF nerve growth factor treatment ISO RGD PMID:26285082 RGD:402463964 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOX1 NADPH oxidase 1 ISO protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr  X:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698 		JBrowse link
G OCLN occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 2:54,500,299...54,545,430
Ensembl chr 2:54,500,299...54,545,430 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15829224 PMID:28642177 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127 		JBrowse link
G PDE10A phosphodiesterase 10A ISO RGD PMID:29215295 RGD:13513923 NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966 		JBrowse link
G PDYN prodynorphin ISO mRNA:increased expression:hippocampus RGD PMID:12626770 RGD:633616 NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 treatment ISO RGD PMID:36571365 RGD:401901253 NCBI chr35:12,233,152...12,745,031
Ensembl chr35:12,491,067...12,741,754 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha ISO RGD PMID:20713027 RGD:13830881 NCBI chr10:67,242,552...67,308,469
Ensembl chr10:67,244,329...67,275,487 		JBrowse link
G PPP3R2 protein phosphatase 3 regulatory subunit B, beta ISO RGD PMID:20713027 RGD:13830881 NCBI chr11:58,295,237...58,295,942 JBrowse link
G PSEN1 presenilin 1 ISO RGD PMID:18240300 RGD:13801189 NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 PMID:28642177 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TP53 tumor protein p53 treatment ISO RGD PMID:27553877 RGD:14995939 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G UBE4B ubiquitination factor E4B ISO CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr 5:63,214,846...63,339,218
Ensembl chr 5:63,215,470...63,338,215 		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 ISO RGD PMID:26448536 RGD:13506960 NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241 		JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:26448536 RGD:13506960 NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277 		JBrowse link
G DRD4 dopamine receptor D4 ISO RGD PMID:26448536 RGD:13506960
G IL6 interleukin 6 treatment ISO RGD PMID:27113205 RGD:11062140 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		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 ISO RGD PMID:28140659 RGD:13782305 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:28140659 RGD:13782305 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Wounds and Injuries 952
      Nervous System Trauma 583
        Craniocerebral Trauma 353
          Brain Injuries 279
            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 15603
    disease of anatomical entity 15198
      nervous system disease 13268
        Nervous System Trauma 583
          Craniocerebral Trauma 353
            Brain Injuries 279
              traumatic brain injury 55
                Brain Concussion + 4
                Brain Contusion 2
                Traumatic Brain Hemorrhage + 0
                chronic traumatic encephalopathy 0
paths to the root