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: Cranial Nerve Injuries
Accession: DOID:9000598
browse the term
Definition: Dysfunction of one or more cranial nerves causally related to a traumatic injury. Penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA; NECK INJURIES; and trauma to the facial region are conditions associated with cranial nerve injuries.
Synonyms: exact_synonym: Cranial Nerve Injury; Traumatic Cranial Neuropathies; Traumatic Cranial Neuropathy
primary_id: MESH:D020209 ; RDO:0007350
For additional species annotation, visit the
Alliance of Genome Resources .
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Bmp4
bone morphogenetic protein 4
IEP
mRNA:increased expression:superior cervical ganglion
RGD
PMID:16420416
RGD:2289006
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:15153618
RGD:4891994
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Adcyap1
adenylate cyclase activating polypeptide 1
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:19427307
RGD:2325258
NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
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Atf2
activating transcription factor 2
IEP
RGD
PMID:9813301
RGD:10047413
NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:19922414
RGD:6892922
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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Cd59
CD59 molecule
IEP
mRNA, protein:increased expression:facial VII nucleus
RGD
PMID:9846834
RGD:1600495
NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
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Csf1
colony stimulating factor 1
IEP
protein:increased expression:facial VII nerve, microglial cell
RGD
PMID:20831658
RGD:5131509
NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
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Ctss
cathepsin S
ISO
RGD
PMID:17539023
RGD:5686912
NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
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Gfra1
GDNF family receptor alpha 1
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:9582449
RGD:6218984
NCBI chr 1:279,203,046...279,572,789
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Hgf
hepatocyte growth factor
treatment
IDA
RGD
PMID:21562589
RGD:8548634
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Mt3
metallothionein 3
treatment
IDA
RGD
PMID:14625437
RGD:9685806
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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Ndufa5
NADH:ubiquinone oxidoreductase subunit A5
IEP
mRNA:increased expression:skeletal muscle
RGD
PMID:8875451
RGD:2302319
NCBI chr 4:51,590,413...51,598,771
Ensembl chr 4:51,590,413...51,598,771
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Ret
ret proto-oncogene
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:9582449
RGD:6218984
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif, 1
IEP
mRNA:increased expression:hypoglossal nerve
RGD
PMID:11311987
RGD:5037239
NCBI chr11:25,342,119...25,350,938
Ensembl chr11:25,342,126...25,350,974
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Aif1
allograft inflammatory factor 1
IEP
RGD
PMID:9698327
RGD:704401
NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
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Csnk2b
casein kinase 2 beta
IEP
RGD
PMID:11068334
RGD:11565824
NCBI chr20:5,108,692...5,113,675
Ensembl chr20:5,106,890...5,113,112
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Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:9183688
RGD:8655640
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Fgfr1
Fibroblast growth factor receptor 1
IEP
RGD
PMID:9183688
RGD:8655640
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Gfra1
GDNF family receptor alpha 1
IEP
mRNA:increased expression:hypoglossal XII nerve
RGD
PMID:10407179
RGD:6218979
NCBI chr 1:279,203,046...279,572,789
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Il1r1
interleukin 1 receptor type 1
IEP
mRNA:increased expression:hypoglossal nerve
RGD
PMID:11311987
RGD:5037239
NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
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Mcam
melanoma cell adhesion molecule
IEP
RGD
PMID:10076889
RGD:7364787
NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
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Mme
membrane metallo-endopeptidase
IEP
RGD
PMID:8201016
RGD:13801045
NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
IEP
RGD
PMID:7769990
RGD:7327191
NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
IEP
RGD
PMID:7769990
RGD:7327191
NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
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Ret
ret proto-oncogene
IEP
mRNA:increased expression:hypoglossal XII nerve
RGD
PMID:10407179
RGD:6218979
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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Smad1
SMAD family member 1
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
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Smad2
SMAD family member 2
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
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Smad3
SMAD family member 3
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
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Smad4
SMAD family member 4
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Smad7
SMAD family member 7
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
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Smad9
SMAD family member 9
IEP
mRNA:decreased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138 Ensembl chr 2:144,191,846...144,212,138
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Txnrd1
thioredoxin reductase 1
IEP
mRNA, protein:increased expression:neuron
RGD
PMID:19833109
RGD:5133729
NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:increased expression:motor neuron
RGD
PMID:21456016
RGD:5684341
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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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
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Amigo3
adhesion molecule with Ig like domain 3
treatment
IEP
RGD
PMID:23613963
RGD:14390159
NCBI chr 8:116,830,773...116,832,299
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Clu
clusterin
IEP
RGD
PMID:14577867
RGD:5129542
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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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
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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
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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
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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
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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
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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
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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
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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
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Gfra1
GDNF family receptor alpha 1
IEP
RGD
PMID:15144875
RGD:6218970
NCBI chr 1:279,203,046...279,572,789
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Tp53
tumor protein p53
IEP
RGD
PMID:22977862
RGD:8547771
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Adrb2
adrenoceptor beta 2
IEP
mRNA:increased expression:Vestibulocochlear nerve:
RGD
PMID:22178544
RGD:8548530
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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