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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;   Traumatic Optic Neuropathies;   Traumatic Optic Neuropathy
 primary_id: MESH:D020221;   RDO:0007358
For additional species annotation, visit the Alliance of Genome Resources.


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Optic Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox IDA RGD PMID:18414890 RGD:2312783 NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 treatment IEP RGD PMID:23613963 RGD:14390159 NCBI chr 8:116,830,773...116,832,299 JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20216911 RGD:2326035 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Aqp9 aquaporin 9 IEP RGD PMID:20216911 RGD:2326035 NCBI chr 8:77,559,621...77,599,781
Ensembl chr 8:77,559,624...77,599,781
JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:10366744 RGD:10047417 NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO
IEP
RGD PMID:15140649, PMID:9520478, PMID:11050383 RGD:8655584, RGD:8655637, RGD:8655586 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G C3 complement C3 IEP mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cdk2 cyclin dependent kinase 2 IEP mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chr 7:3,124,953...3,132,533
Ensembl chr 7:3,124,954...3,132,457
JBrowse link
G Cfl1 cofilin 1 treatment IDA RGD PMID:27443501 RGD:11568693 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Clu clusterin IEP RGD PMID:14577867 RGD:5129542 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Ctsb cathepsin B IEP protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Ednrb endothelin receptor type B IEP mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Ep300 E1A binding protein p300 IEP
ISO
protein:decreased expression:retinal ganglion cell layer (rat)
human gene in rat model
RGD PMID:21705428, PMID:21705428 RGD:7349392, RGD:7349392 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:14664816 RGD:8554854 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gdnf glial cell derived neurotrophic factor IEP RGD PMID:15144875 RGD:6218970 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP RGD PMID:15144875 RGD:6218970 NCBI chr 1:279,203,046...279,572,789 JBrowse link
G Gfra2 GDNF family receptor alpha 2 IEP RGD PMID:15144875 RGD:6218970 NCBI chr15:52,557,004...52,648,984
Ensembl chr15:52,557,607...52,648,972
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IMP
IEP
protein: altered activity: eye
protein:increased expression:retina:
RGD PMID:19484445, PMID:23648097 RGD:5686431, RGD:10046025 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:10366744 RGD:10047417 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:20216911 RGD:2326035 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO mRNA:increased expression:retina RGD PMID:12076086 RGD:8662362 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase treatment IMP RGD PMID:28032230 RGD:13781885 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Nefm neurofilament medium IEP RGD PMID:8501527 RGD:9743936 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Neo1 neogenin 1 IEP protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chr 8:63,649,871...63,756,394
Ensembl chr 8:63,653,266...63,750,531
JBrowse link
G Ngfr nerve growth factor receptor IDA RGD PMID:20943663 RGD:5508695 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IDA RGD PMID:20943663 RGD:5508695 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IDA RGD PMID:20357199 RGD:5684908 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Pawr pro-apoptotic WT1 regulator IEP mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chr 7:51,273,764...51,353,700
Ensembl chr 7:51,273,771...51,353,068
JBrowse link
G Pax6 paired box 6 IEP protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 IEP protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Plau plasminogen activator, urokinase IEP mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 IEP protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chr 1:103,197,918...103,258,309
Ensembl chr 1:103,197,915...103,256,823
JBrowse link
G Rhoa ras homolog family member A IEP protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Snw1 SNW domain containing 1 IEP protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chr 6:111,483,698...111,507,782
Ensembl chr 6:111,483,703...111,507,782
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP
ISO
RGD PMID:18552980, PMID:14697498 RGD:7794683, RGD:8661743 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tradd TNFRSF1A-associated via death domain IEP protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chr19:37,214,461...37,221,099
Ensembl chr19:37,214,471...37,216,572
JBrowse link
G Ybx3 Y box binding protein 3 IEP mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chr 4:165,606,819...165,630,041
Ensembl chr 4:165,606,819...165,630,118
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      eye disease 2592
        optic nerve disease 240
          Optic Nerve Injuries 46
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            cranial nerve disease 472
              optic nerve disease 240
                Optic Nerve Injuries 46
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.