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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:Brain Injuries, Traumatic
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Accession:DOID:9003061 term browser browse the term
Definition:A form of acquired brain injury which occurs when a sudden trauma causes damage to the brain.
Synonyms:exact_synonym: Brain Trauma;   Brain Traumas;   TBI (Traumatic Brain Injuries);   TBI (Traumatic Brain Injury);   TBIs (Traumatic Brain Injuries);   Traumatic Brain Injury;   Traumatic Encephalopathies;   Traumatic Encephalopathy
 primary_id: MESH:D000070642;   RDO:0016089
For additional species annotation, visit the Alliance of Genome Resources.

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Brain Injuries, Traumatic 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 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483 		JBrowse link
G App amyloid beta precursor protein treatment ISO RGD PMID:29320530 RGD:13782048 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858 		JBrowse link
G Bad BCL2-associated agonist of cell death treatment IEP RGD PMID:24582457 RGD:13782254 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453 		JBrowse link
G Capn1 calpain 1 IEP protein:increased expression:cytosol, plasma membrane RGD PMID:9469158 RGD:13792664 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322 		JBrowse link
G Capn2 calpain 2 IEP RGD PMID:9469158 RGD:13792664 NCBI chr13:100,878,649...100,928,811
Ensembl chr13:100,878,650...100,928,811 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:26435412 RGD:27095897 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930 		JBrowse link
G Drd1 dopamine receptor D1 treatment IEP RGD PMID:24047867 RGD:13506948 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541 		JBrowse link
G Drd2 dopamine receptor D2 treatment IEP RGD PMID:24047867 RGD:13506948 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642 		JBrowse link
G Fubp1 far upstream element binding protein 1 IEP RGD PMID:23797733 RGD:13673879 NCBI chr 2:257,425,676...257,452,745
Ensembl chr 2:257,425,679...257,449,568 		JBrowse link
G Gnal G protein subunit alpha L IEP RGD PMID:29215295 RGD:13513923 NCBI chr18:62,805,406...62,946,133
Ensembl chr18:62,805,410...62,944,630 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 9:115,916,907...116,042,123
Ensembl chr 9:115,916,907...116,042,123 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 IEP protein:increased expression:hippocampus: RGD PMID:28365875 RGD:13703062 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044 		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 chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517 		JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:28804446 RGD:25314324 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260 		JBrowse link
G Ncstn nicastrin ISO RGD PMID:18240300 RGD:13801189 NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256 		JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 IEP protein:increased expression:brain: RGD PMID:30855558 RGD:26884463 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190 		JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15829224 PMID:28642177 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716 		JBrowse link
G Pde10a phosphodiesterase 10A IEP RGD PMID:29215295 RGD:13513923 NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450 		JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha IEP RGD PMID:20713027 RGD:13830881 NCBI chr14:100,311,224...100,360,879
Ensembl chr14:100,311,173...100,360,879 		JBrowse link
G Ppp3r2 protein phosphatase 3, regulatory subunit B, beta IEP RGD PMID:20713027 RGD:13830881 NCBI chr 5:64,945,583...64,946,578
Ensembl chr 5:64,945,583...64,946,580 		JBrowse link
G Psen1 presenilin 1 ISO RGD PMID:18240300 RGD:13801189 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25668593 PMID:28642177 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:28433746 RGD:14995478 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28642177 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tp53 tumor protein p53 treatment IMP RGD PMID:27553877 RGD:14995939 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Ube4b ubiquitination factor E4B ISO CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr 5:166,156,033...166,259,069
Ensembl chr 5:166,156,033...166,259,069 		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 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642 		JBrowse link
G Drd3 dopamine receptor D3 IEP RGD PMID:26448536 RGD:13506960 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327 		JBrowse link
G Drd4 dopamine receptor D4 IEP RGD PMID:26448536 RGD:13506960 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483 		JBrowse link
G Il6 interleukin 6 treatment IDA RGD PMID:27113205 RGD:11062140 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		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 chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204 		JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:28140659 RGD:13782305 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Wounds and Injuries 856
      Nervous System Trauma 542
        Craniocerebral Trauma 336
          Brain Injuries 271
            Brain Injuries, Traumatic 40
              Brain Concussion + 4
              Brain Contusion 2
              Brain Hemorrhage, Traumatic + 0
              Chronic Traumatic Encephalopathy 0
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        Nervous System Trauma 542
          Craniocerebral Trauma 336
            Brain Injuries 271
              Brain Injuries, Traumatic 40
                Brain Concussion + 4
                Brain Contusion 2
                Brain Hemorrhage, Traumatic + 0
                Chronic Traumatic Encephalopathy 0
paths to the root