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_004936481:18,274,158...18,330,136
Ensembl chrNW_004936481:18,274,154...18,330,173
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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
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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
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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
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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
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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
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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
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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
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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
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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_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014
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C3
complement C3
ISO
mRNA:increased expression:optic nerve
RGD
PMID:14577867
RGD:5129542
NCBI chrNW_004936588:3,985,732...4,023,221
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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
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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
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Clu
clusterin
ISO
RGD
PMID:14577867
RGD:5129542
NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500
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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
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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_004936528:523,884...586,306
Ensembl chrNW_004936528:525,769...586,327
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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
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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
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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
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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
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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
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