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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 chr26:24,768,827...24,921,169
Ensembl chr26:24,768,915...24,919,009 		JBrowse link
G APP amyloid beta precursor protein treatment ISO RGD PMID:29320530 RGD:13782048 NCBI chr 2:66,037,224...66,320,860
Ensembl chr 2:66,037,261...66,321,306 		JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:24582457 RGD:13782254 NCBI chr 1:9,949,717...9,964,433
Ensembl chr 1:9,949,762...9,964,432 		JBrowse link
G CAPN1 calpain 1 ISO protein:increased expression:cytosol, plasma membrane RGD PMID:9469158 RGD:13792664 NCBI chr 1:9,014,087...9,050,389
Ensembl chr 1:9,014,084...9,049,804 		JBrowse link
G CAPN2 calpain 2 ISO RGD PMID:9469158 RGD:13792664 NCBI chr25:5,845,873...5,905,464
Ensembl chr25:5,846,298...5,905,402 		JBrowse link
G CASP3 caspase 3 ISO protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		JBrowse link
G CD163 CD163 molecule ISO protein:increased expression:brain, macrophage (rat) RGD PMID:22583855 RGD:127285798 NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G CD8A CD8 subunit alpha ISO mRNA:increased expression:brain (mouse) RGD PMID:31383034 RGD:124715446 NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO mRNA:decreased expression:cerebral cortex��(rat) RGD PMID:12503083 RGD:2317873 NCBI chr11:115,026,809...115,220,558
Ensembl chr11:115,025,045...115,219,356 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:26435412 RGD:27095897 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr 9:40,005,580...40,020,513
Ensembl chr 9:40,011,439...40,020,494 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 treatment ISO RGD PMID:26068867 RGD:401901590 NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513 		JBrowse link
G DRD1 dopamine receptor D1 treatment ISO RGD PMID:24047867 RGD:13506948 NCBI chr23:77,587,340...77,591,434 JBrowse link
G DRD2 dopamine receptor D2 treatment ISO RGD PMID:24047867 RGD:13506948 NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:decreased expression:cerebral cortex RGD PMID:31992337 RGD:329901857 NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747 		JBrowse link
G FUBP1 far upstream element binding protein 1 ISO RGD PMID:23797733 RGD:13673879 NCBI chr20:55,194,681...55,233,666
Ensembl chr20:55,194,743...55,230,277 		JBrowse link
G GNAL G protein subunit alpha L ISO RGD PMID:29215295 RGD:13513923 NCBI chr18:69,508,254...69,699,628
Ensembl chr18:69,510,512...69,635,000 		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 chr23:55,944,128...56,265,748
Ensembl chr23:56,101,294...56,265,849 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G ITGB1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 9:32,201,030...32,258,247
Ensembl chr 9:32,202,204...32,258,154 		JBrowse link
G LAMA1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr18:65,996,233...66,162,510 JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO protein:increased expression:hippocampus: RGD PMID:28365875 RGD:13703062
G LCN2 lipocalin 2 ISO RGD PMID:31539545 RGD:126781751 NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870 		JBrowse link
G LOC103244924 cyclin-G1 treatment ISO RGD PMID:18612315 PMID:24398934 RGD:151356934 RGD:151356935 NCBI chr23:65,709,759...65,716,913
Ensembl chr23:65,709,786...65,714,711 		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 chr16:59,894,400...60,020,723
Ensembl chr16:59,890,221...59,955,612 		JBrowse link
G METTL14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO mRNA:decreased expression:cerebral cortex RGD PMID:31992337 RGD:329901857 NCBI chr 7:66,169,080...66,195,324
Ensembl chr 7:66,168,855...66,194,121 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671 		JBrowse link
G NCSTN nicastrin ISO RGD PMID:18240300 RGD:13801189 NCBI chr20:3,590,044...3,606,205
Ensembl chr20:3,590,725...3,606,066 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO protein:increased expression:brain: RGD PMID:30855558 RGD:26884463 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NGF nerve growth factor treatment ISO RGD PMID:26285082 RGD:402463964 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr20:121,790,836...121,797,043 JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NOX1 NADPH oxidase 1 ISO protein:increased expression:cerebral cortex RGD PMID:27614125 RGD:329961568 NCBI chr  X:89,182,636...89,210,176
Ensembl chr  X:89,183,264...89,209,298 		JBrowse link
G OCLN occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 4:65,581,943...65,641,516
Ensembl chr 4:65,582,460...65,644,787 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15829224 PMID:28642177 NCBI chr25:3,350,798...3,405,040 JBrowse link
G PDE10A phosphodiesterase 10A ISO RGD PMID:29215295 RGD:13513923 NCBI chr13:93,012,027...93,684,349
Ensembl chr13:93,020,696...93,344,369 		JBrowse link
G PDYN prodynorphin ISO mRNA:increased expression:hippocampus RGD PMID:12626770 RGD:633616 NCBI chr 2:54,535,516...54,551,085
Ensembl chr 2:54,535,240...54,551,104 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 treatment ISO RGD PMID:36571365 RGD:401901253 NCBI chr17:58,859,456...59,440,969
Ensembl chr17:58,862,828...59,133,298 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha ISO RGD PMID:20713027 RGD:13830881 NCBI chr14:38,832,976...38,907,425
Ensembl chr14:38,832,809...38,905,321 		JBrowse link
G PPP3R2 protein phosphatase 3 regulatory subunit B, beta ISO RGD PMID:20713027 RGD:13830881 NCBI chr12:37,838,156...37,841,477 JBrowse link
G PSEN1 presenilin 1 ISO RGD PMID:18240300 RGD:13801189 NCBI chr24:50,394,310...50,476,521
Ensembl chr24:50,405,590...50,472,132 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 PMID:28642177 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516 		JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO RGD PMID:28433746 RGD:14995478 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177
G TP53 tumor protein p53 treatment ISO RGD PMID:27553877 RGD:14995939 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G UBE4B ubiquitination factor E4B ISO CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr20:121,597,775...121,744,986 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 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736 		JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:26448536 RGD:13506960 NCBI chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690 		JBrowse link
G DRD4 dopamine receptor D4 ISO RGD PMID:26448536 RGD:13506960 NCBI chr 1:454,018...459,582 JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:27113205 RGD:11062140 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		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 chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:28140659 RGD:13782305 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    Wounds and Injuries 925
      Nervous System Trauma 569
        Craniocerebral Trauma 344
          Brain Injuries 273
            traumatic brain injury 54
              Brain Concussion + 4
              Brain Contusion 2
              Traumatic Brain Hemorrhage + 0
              chronic traumatic encephalopathy 0
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      nervous system disease 12971
        Nervous System Trauma 569
          Craniocerebral Trauma 344
            Brain Injuries 273
              traumatic brain injury 54
                Brain Concussion + 4
                Brain Contusion 2
                Traumatic Brain Hemorrhage + 0
                chronic traumatic encephalopathy 0
paths to the root