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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:Optic Nerve Injuries
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Accession:DOID:9008091 term browser browse the term
Definition:Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect.
Synonyms:exact_synonym: Cranial Nerve II Injuries;   Optic Nerve Avulsion;   Optic Nerve Avulsions;   Optic Nerve Contusion;   Optic Nerve Contusions;   Optic Nerve Injury;   Optic Nerve Transection;   Optic Nerve Transections;   Optic Nerve Trauma;   Optic Nerve Traumas;   Second Cranial Nerve Injuries;   Second Cranial Nerve Trauma;   TON;   Traumatic Optic Neuropathies;   Traumatic Optic Neuropathy
 primary_id: MESH:D020221;   RDO:0007358


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Optic Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 ISO protein:decreased expression:retina RGD PMID:22649251 RGD:329347828 NCBI chrNW_004936481:18,274,158...18,330,136
Ensembl chrNW_004936481:18,274,154...18,330,173
JBrowse link
G Adnp activity dependent neuroprotector homeobox ISO RGD PMID:18414890 RGD:2312783 NCBI chrNW_004936514:3,855,113...3,883,036
Ensembl chrNW_004936514:3,855,672...3,885,718
JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 treatment ISO RGD PMID:23613963 RGD:14390159 NCBI chrNW_004936529:1,331,610...1,335,058
Ensembl chrNW_004936529:1,332,874...1,334,403
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20216911 RGD:2326035 NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354
JBrowse link
G Aqp9 aquaporin 9 ISO RGD PMID:20216911 RGD:2326035 NCBI chrNW_004936471:19,321,366...19,361,227
Ensembl chrNW_004936471:19,321,426...19,362,146
JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chrNW_004936495:11,004,296...11,045,467
Ensembl chrNW_004936495:11,004,176...11,045,472
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:10366744 RGD:10047417 NCBI chrNW_004936509:4,729,984...4,826,367
Ensembl chrNW_004936509:4,732,930...4,826,443
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO RGD PMID:9520478 PMID:11050383 PMID:15140649 RGD:8655584 RGD:8655586 RGD:8655637 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014
JBrowse link
G C3 complement C3 ISO mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chrNW_004936646:379,849...385,648
Ensembl chrNW_004936646:379,842...385,877
JBrowse link
G Cfl1 cofilin 1 treatment ISO RGD PMID:27443501 RGD:11568693 NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307
JBrowse link
G Clu clusterin ISO RGD PMID:14577867 RGD:5129542 NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO mRNA:increased expression:retina (rat) RGD PMID:20187850 RGD:151665810 NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772
JBrowse link
G Ednra endothelin receptor type A ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910
JBrowse link
G Ednrb endothelin receptor type B ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434
JBrowse link
G Ep300 E1A binding protein p300 ISO protein:decreased expression:retinal ganglion cell layer (rat)
human gene in rat model
RGD PMID:21705428 RGD:7349392 NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138
JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:retina RGD PMID:33664770 RGD:329951020 NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:15144875 RGD:6218970 NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753
JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:15144875 RGD:6218970 NCBI chrNW_004936486:6,066,108...6,262,055
Ensembl chrNW_004936486:6,071,023...6,262,165
JBrowse link
G Gfra2 GDNF family receptor alpha 2 ISO RGD PMID:15144875 RGD:6218970 NCBI chrNW_004936555:5,573,765...5,653,881
Ensembl chrNW_004936555:5,573,720...5,653,509
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO protein:increased expression:retina:
protein: altered activity: eye
RGD PMID:19484445 PMID:23648097 RGD:10046025 RGD:5686431 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:10366744 RGD:10047417 NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350
JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:20216911 RGD:2326035 NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353
JBrowse link
G Myrf myelin regulatory factor ISO mRNA:decreased expression: oligodendrocyte RGD PMID:29915135 RGD:213230153 NCBI chrNW_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28032230 RGD:13781885 NCBI chrNW_004936479:17,682,070...17,716,713
Ensembl chrNW_004936479:17,682,201...17,716,661
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO RGD PMID:18757519 RGD:2326023 NCBI chrNW_004936612:1,262,557...1,556,281
Ensembl chrNW_004936612:1,262,544...1,556,016
JBrowse link
G Nefm neurofilament medium chain ISO RGD PMID:8501527 RGD:9743936 NCBI chrNW_004936757:1,662,905...1,668,707
Ensembl chrNW_004936757:1,663,399...1,668,075
JBrowse link
G Neo1 neogenin 1 ISO protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chrNW_004936471:32,345,578...32,517,245
Ensembl chrNW_004936471:32,292,745...32,516,624
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:retina RGD PMID:28067793 RGD:402463954 NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364
JBrowse link
G Ngfr nerve growth factor receptor ISO RGD PMID:20943663 RGD:5508695 NCBI chrNW_004936490:12,038,500...12,057,257
Ensembl chrNW_004936490:12,035,769...12,057,263
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:20943663 RGD:5508695 NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20357199 RGD:5684908 NCBI chrNW_004936680:267,850...621,467
Ensembl chrNW_004936680:267,596...615,928
JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chrNW_004936698:650,225...746,593
Ensembl chrNW_004936698:650,953...747,057
JBrowse link
G Pax6 paired box 6 ISO protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500
JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chrNW_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877
JBrowse link
G Ptpn5 protein tyrosine phosphatase non-receptor type 5 ISO protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chrNW_004936528:523,884...586,306
Ensembl chrNW_004936528:525,769...586,327
JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681
JBrowse link
G Snw1 SNW domain containing 1 ISO protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chrNW_004936488:6,494,556...6,531,297
Ensembl chrNW_004936488:6,494,562...6,531,600
JBrowse link
G Tlr4 toll like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:14697498 PMID:18552980 RGD:7794683 RGD:8661743 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
JBrowse link
G Tradd TNFRSF1A associated via death domain ISO protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chrNW_004936475:17,628,297...17,634,919
Ensembl chrNW_004936475:17,628,803...17,630,856
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6287
      eye disease 3217
        optic nerve disease 342
          Optic Nerve Injuries 48
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11290
      Signs and Symptoms 9358
        Neurologic Manifestations 9048
          sensory system disease 6287
            eye disease 3217
              optic nerve disease 342
                Optic Nerve Injuries 48
paths to the root