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
Accession: DOID:9008091
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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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Adcy10
adenylate cyclase 10
ISO
protein:decreased expression:retina
RGD
PMID:22649251
RGD:329347828
NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
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Adnp
activity dependent neuroprotector homeobox
ISO
RGD
PMID:18414890
RGD:2312783
NCBI chrNW_004955445:7,498,223...7,530,828
Ensembl chrNW_004955445:7,492,257...7,531,862
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Amigo3
adhesion molecule with Ig like domain 3
treatment
ISO
RGD
PMID:23613963
RGD:14390159
NCBI chrNW_004955532:1,618,659...1,621,706
Ensembl chrNW_004955532:1,619,532...1,621,064
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Aqp4
aquaporin 4
ISO
RGD
PMID:20216911
RGD:2326035
NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
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Aqp9
aquaporin 9
ISO
RGD
PMID:20216911
RGD:2326035
NCBI chrNW_004955450:16,253,706...16,346,602
Ensembl chrNW_004955450:16,253,571...16,302,657
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Arg2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30618589
NCBI chrNW_004955466:2,549,557...2,577,060
Ensembl chrNW_004955466:2,549,557...2,577,060
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Atf2
activating transcription factor 2
ISO
RGD
PMID:10366744
RGD:10047417
NCBI chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218
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Bax
BCL2 associated X, apoptosis regulator
ISO
mRNA:increased expression:optic nerve, retina
RGD
PMID:24357921
RGD:10054098
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
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Bcl2
BCL2 apoptosis regulator
ISO
mRNA:decreased expression:optic nerve, retina
RGD
PMID:24357921
RGD:10054098
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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Bdnf
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:9520478 PMID:11050383 PMID:15140649
RGD:8655584 RGD:8655586 RGD:8655637
NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
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C3
complement C3
ISO
mRNA:increased expression:optic nerve
RGD
PMID:14577867
RGD:5129542
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Cdk2
cyclin dependent kinase 2
ISO
mRNA:increased expression:retina
RGD
PMID:16723461
RGD:2293567
NCBI chrNW_004955458:3,555,603...3,561,063
Ensembl chrNW_004955458:3,555,603...3,562,120
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Cfl1
cofilin 1
treatment
ISO
RGD
PMID:27443501
RGD:11568693
NCBI chrNW_004955422:19,479,181...19,482,571
Ensembl chrNW_004955422:19,479,181...19,482,571
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Clu
clusterin
ISO
RGD
PMID:14577867
RGD:5129542
NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
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Csf1r
colony stimulating factor 1 receptor
ISO
mRNA:increased expression:retina (rat)
RGD
PMID:20187850
RGD:151665810
NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:20144610
RGD:11039471
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Ctsb
cathepsin B
ISO
protein:increased expression:retina (rat)
RGD
PMID:18775855
RGD:2315508
NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809
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Edn1
endothelin 1
ISO
protein:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
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Ednra
endothelin receptor type A
ISO
mRNA:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761
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Ednrb
endothelin receptor type B
ISO
mRNA:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358
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Ep300
E1A binding protein p300
ISO
human gene in rat model protein:decreased expression:retinal ganglion cell layer (rat)
RGD
PMID:21705428
RGD:7349392
NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:14664816
RGD:8554854
NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:retina
RGD
PMID:33664770
RGD:329951020
NCBI chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:15144875
RGD:6218970
NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
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Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:15144875
RGD:6218970
NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853
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Gfra2
GDNF family receptor alpha 2
ISO
RGD
PMID:15144875
RGD:6218970
NCBI chrNW_004955403:45,235,161...45,324,825
Ensembl chrNW_004955403:45,235,119...45,324,946
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Hgf
hepatocyte growth factor
treatment
ISO
RGD
PMID:21443522
RGD:8548549
NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058
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Igf1r
insulin like growth factor 1 receptor
ISO
protein: altered activity: eye protein:increased expression:retina:
RGD
PMID:19484445 PMID:23648097
RGD:10046025 RGD:5686431
NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:10366744
RGD:10047417
NCBI chrNW_004955464:1,107,598...1,110,326
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Kcnj10
potassium inwardly rectifying channel subfamily J member 10
ISO
RGD
PMID:20216911
RGD:2326035
NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365
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Myrf
myelin regulatory factor
ISO
mRNA:decreased expression: oligodendrocyte
RGD
PMID:29915135
RGD:213230153
NCBI chrNW_004955511:5,927,103...5,949,289
Ensembl chrNW_004955511:5,927,698...5,942,242
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Nampt
nicotinamide phosphoribosyltransferase
treatment
ISO
RGD
PMID:28032230
RGD:13781885
NCBI chrNW_004955410:10,717,664...10,742,109
Ensembl chrNW_004955410:10,717,664...10,751,177
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Ncam1
neural cell adhesion molecule 1
ISO
RGD
PMID:18757519
RGD:2326023
NCBI chrNW_004955412:14,630,109...14,923,847
Ensembl chrNW_004955412:14,630,443...14,923,926
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Nefm
neurofilament medium chain
ISO
RGD
PMID:8501527
RGD:9743936
NCBI chrNW_004955403:47,920,408...47,926,922
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Neo1
neogenin 1
ISO
protein:increased expression:retina
RGD
PMID:21887516
RGD:9850142
NCBI chrNW_004955450:4,191,168...4,324,997
Ensembl chrNW_004955450:4,191,168...4,375,896
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Ngf
nerve growth factor
ISO
protein:increased expression:retina
RGD
PMID:28067793
RGD:402463954
NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
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Ngfr
nerve growth factor receptor
ISO
RGD
PMID:20943663
RGD:5508695
NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
RGD
PMID:20943663
RGD:5508695
NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
RGD
PMID:20357199
RGD:5684908
NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878
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Pawr
pro-apoptotic WT1 regulator
ISO
mRNA:increased expression:retina:
RGD
PMID:12836167
RGD:1299297
NCBI chrNW_004955405:18,434,711...18,540,710
Ensembl chrNW_004955405:18,434,711...18,540,710
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Pax6
paired box 6
ISO
protein:increased expression:retina (rat)
RGD
PMID:23297010
RGD:8552379
NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162
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Pdgfb
platelet derived growth factor subunit B
ISO
protein:decreased expression:nerve fiber:
RGD
PMID:9893812
RGD:10449496
NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:optic nerve (rat)
RGD
PMID:22336118
RGD:6767293
NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
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Plau
plasminogen activator, urokinase
ISO
mRNA:increased expression:optic nerve (rat)
RGD
PMID:20798533
RGD:6483802
NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
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Ptpn5
protein tyrosine phosphatase non-receptor type 5
ISO
protein:increased expression:retina (rat)
RGD
PMID:15555919
RGD:9835027
NCBI chrNW_004955414:33,381,783...33,436,974
Ensembl chrNW_004955414:33,377,322...33,437,118
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Rhoa
ras homolog family member A
ISO
protein:increased expression, altered localization:retina
RGD
PMID:17534117
RGD:1642826
NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
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Snw1
SNW domain containing 1
ISO
protein:increased expression:retina (rat)
RGD
PMID:25074585
RGD:11035254
NCBI chrNW_004955438:1,561,562...1,601,492
Ensembl chrNW_004955438:1,561,568...1,601,492
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Tlr4
toll like receptor 4
ISO
protein:increased expression:optic nerve
RGD
PMID:23103505
RGD:7794777
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:14697498 PMID:18552980
RGD:7794683 RGD:8661743
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Tradd
TNFRSF1A associated via death domain
ISO
protein:increased expression: retina
RGD
PMID:18552980
RGD:7794683
NCBI chrNW_004955484:9,456,268...9,462,425
Ensembl chrNW_004955484:9,456,301...9,462,425
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Ybx3
Y-box binding protein 3
ISO
mRNA:increased expression:retinal ganglion cell
RGD
PMID:11750989
RGD:2311250
NCBI chrNW_004955413:7,090,085...7,111,542
Ensembl chrNW_004955413:7,089,719...7,108,473
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