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
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BMP4
bone morphogenetic protein 4
ISO
mRNA:increased expression:superior cervical ganglion
RGD
PMID:16420416
RGD:2289006
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:15153618
RGD:4891994
NCBI chr 6:19,312,351...19,324,439
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ADCYAP1
adenylate cyclase activating polypeptide 1
ISO
mRNA:increased expression:facial VII nucleus
RGD
PMID:19427307
RGD:2325258
NCBI chr 6:105,414,628...105,422,294
Ensembl chr 6:105,414,631...105,422,294
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ATF2
activating transcription factor 2
ISO
RGD
PMID:9813301
RGD:10047413
NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,985,126...81,081,014
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19922414
RGD:6892922
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
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CD59
CD59 molecule
ISO
mRNA, protein:increased expression:facial VII nucleus
RGD
PMID:9846834
RGD:1600495
NCBI chr 2:27,186,587...27,207,303
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CSF1
colony stimulating factor 1
ISO
protein:increased expression:facial VII nerve, microglial cell
RGD
PMID:20831658
RGD:5131509
NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
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CTSS
cathepsin S
ISO
RGD
PMID:17539023
RGD:5686912
NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950
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GFRA1
GDNF family receptor alpha 1
ISO
mRNA:increased expression:facial VII nucleus
RGD
PMID:9582449
RGD:6218984
NCBI chr14:126,273,558...126,499,957
Ensembl chr14:126,277,875...126,499,465
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HGF
hepatocyte growth factor
treatment
ISO
RGD
PMID:21562589
RGD:8548634
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
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MT3
metallothionein 3
treatment
ISO
RGD
PMID:14625437
RGD:9685806
NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,261...18,636,131
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NDUFA5
NADH:ubiquinone oxidoreductase subunit A5
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:8875451
RGD:2302319
NCBI chr18:23,881,872...23,896,699
Ensembl chr18:23,881,966...23,900,855
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RET
ret proto-oncogene
ISO
mRNA:increased expression:facial VII nucleus
RGD
PMID:9582449
RGD:6218984
NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
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ACVR1B
activin A receptor type 1B
ISO
RGD
PMID:9013782
RGD:151665480
NCBI chr 5:17,314,322...17,350,726
Ensembl chr 5:17,314,276...17,350,722
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ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
mRNA:increased expression:hypoglossal nerve
RGD
PMID:11311987
RGD:5037239
NCBI chr13:190,277,175...190,285,957
Ensembl chr13:190,276,430...190,286,214
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AIF1
allograft inflammatory factor 1
ISO
RGD
PMID:9698327
RGD:704401
NCBI chr 7:23,711,752...23,731,191
Ensembl chr 7:23,726,787...23,731,671
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CSNK2B
casein kinase 2 beta
ISO
RGD
PMID:11068334
RGD:11565824
NCBI chr 7:23,781,194...23,787,914
Ensembl chr 7:23,780,362...23,788,678 Ensembl chr 7:23,780,362...23,788,678
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FGF2
fibroblast growth factor 2
ISO
RGD
PMID:9183688
RGD:8655640
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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FGFR1
fibroblast growth factor receptor 1
ISO
RGD
PMID:9183688
RGD:8655640
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
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GFRA1
GDNF family receptor alpha 1
ISO
mRNA:increased expression:hypoglossal XII nerve
RGD
PMID:10407179
RGD:6218979
NCBI chr14:126,273,558...126,499,957
Ensembl chr14:126,277,875...126,499,465
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IL1R1
interleukin 1 receptor type 1
ISO
mRNA:increased expression:hypoglossal nerve
RGD
PMID:11311987
RGD:5037239
NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
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MCAM
melanoma cell adhesion molecule
ISO
RGD
PMID:10076889
RGD:7364787
NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
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MME
membrane metalloendopeptidase
ISO
RGD
PMID:8201016
RGD:13801045
NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
ISO
RGD
PMID:7769990
RGD:7327191
NCBI chr 2:65,074,876...65,095,564
Ensembl chr 2:65,074,870...65,095,551
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PRKACB
protein kinase cAMP-activated catalytic subunit beta
ISO
RGD
PMID:7769990
RGD:7327191
NCBI chr 6:129,520,397...129,636,207
Ensembl chr 6:129,520,376...129,635,733
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RET
ret proto-oncogene
ISO
mRNA:increased expression:hypoglossal XII nerve
RGD
PMID:10407179
RGD:6218979
NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
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SMAD1
SMAD family member 1
ISO
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994
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SMAD2
SMAD family member 2
ISO
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357
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SMAD3
SMAD family member 3
ISO
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449
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SMAD4
SMAD family member 4
ISO
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
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SMAD7
SMAD family member 7
ISO
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 1:98,512,800...98,543,924
Ensembl chr 1:98,514,267...98,542,382
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SMAD9
SMAD family member 9
ISO
mRNA:decreased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr11:12,705,652...12,727,981
Ensembl chr11:12,705,368...12,763,008
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TXNRD1
thioredoxin reductase 1
ISO
mRNA, protein:increased expression:neuron
RGD
PMID:19833109
RGD:5133729
NCBI chr 5:80,170,334...80,213,889
Ensembl chr 5:80,172,260...80,236,219
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:motor neuron
RGD
PMID:21456016
RGD:5684341
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
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ADCY10
adenylate cyclase 10
ISO
protein:decreased expression:retina
RGD
PMID:22649251
RGD:329347828
NCBI chr 4:83,103,768...83,205,015
Ensembl chr 4:83,098,290...83,205,454
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ADNP
activity dependent neuroprotector homeobox
ISO
RGD
PMID:18414890
RGD:2312783
NCBI chr17:52,316,388...52,350,732
Ensembl chr17:52,317,913...52,332,079
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AQP4
aquaporin 4
ISO
RGD
PMID:20216911
RGD:2326035
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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AQP9
aquaporin 9
ISO
RGD
PMID:20216911
RGD:2326035
NCBI chr 1:113,798,380...113,848,452
Ensembl chr 1:113,794,040...113,848,683
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ARG2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30618589
NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,988...91,385,909
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ATF2
activating transcription factor 2
ISO
RGD
PMID:10366744
RGD:10047417
NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,985,126...81,081,014
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BAX
BCL2 associated X, apoptosis regulator
ISO
mRNA:increased expression:optic nerve, retina
RGD
PMID:24357921
RGD:10054098
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
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BCL2
BCL2 apoptosis regulator
ISO
mRNA:decreased expression:optic nerve, retina
RGD
PMID:24357921
RGD:10054098
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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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 chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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C3
complement C3
ISO
mRNA:increased expression:optic nerve
RGD
PMID:14577867
RGD:5129542
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CDK2
cyclin dependent kinase 2
ISO
mRNA:increased expression:retina
RGD
PMID:16723461
RGD:2293567
NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
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CFL1
cofilin 1
treatment
ISO
RGD
PMID:27443501
RGD:11568693
NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035
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CLU
clusterin
ISO
RGD
PMID:14577867
RGD:5129542
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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CSF1R
colony stimulating factor 1 receptor
ISO
mRNA:increased expression:retina (rat)
RGD
PMID:20187850
RGD:151665810
NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633
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CSF3
colony stimulating factor 3
treatment
ISO
RGD
PMID:20144610
RGD:11039471
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
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CTSB
cathepsin B
ISO
protein:increased expression:retina (rat)
RGD
PMID:18775855
RGD:2315508
NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
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EDN1
endothelin 1
ISO
protein:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EDNRA
endothelin receptor type A
ISO
mRNA:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
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EDNRB
endothelin receptor type B
ISO
mRNA:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
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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 chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
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FGF2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:14664816
RGD:8554854
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:retina
RGD
PMID:33664770
RGD:329951020
NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
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GDNF
glial cell derived neurotrophic factor
ISO
RGD
PMID:15144875
RGD:6218970
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
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GFRA1
GDNF family receptor alpha 1
ISO
RGD
PMID:15144875
RGD:6218970
NCBI chr14:126,273,558...126,499,957
Ensembl chr14:126,277,875...126,499,465
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GFRA2
GDNF family receptor alpha 2
ISO
RGD
PMID:15144875
RGD:6218970
NCBI chr14:5,743,583...5,837,470
Ensembl chr14:5,743,584...5,837,454
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HGF
hepatocyte growth factor
treatment
ISO
RGD
PMID:21443522
RGD:8548549
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
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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 chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:10366744
RGD:10047417
NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
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KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
RGD
PMID:20216911
RGD:2326035
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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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:6,511...8,055
Ensembl chr MT:6,511...8,055
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MYRF
myelin regulatory factor
ISO
mRNA:decreased expression: oligodendrocyte
RGD
PMID:29915135
RGD:213230153
NCBI chr 2:9,761,230...9,795,873
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NAMPT
nicotinamide phosphoribosyltransferase
treatment
ISO
RGD
PMID:28032230
RGD:13781885
NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,586
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NCAM1
neural cell adhesion molecule 1
ISO
RGD
PMID:18757519
RGD:2326023
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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NEFM
neurofilament medium chain
ISO
RGD
PMID:8501527
RGD:9743936
NCBI chr14:8,955,346...8,967,211
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NEO1
neogenin 1
ISO
protein:increased expression:retina
RGD
PMID:21887516
RGD:9850142
NCBI chr 7:60,064,984...60,299,892
Ensembl chr 7:60,064,994...60,300,562
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NGF
nerve growth factor
ISO
protein:increased expression:retina
RGD
PMID:28067793
RGD:402463954
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
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NGFR
nerve growth factor receptor
ISO
RGD
PMID:20943663
RGD:5508695
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
RGD
PMID:20943663
RGD:5508695
NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
RGD
PMID:20357199
RGD:5684908
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
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PAWR
pro-apoptotic WT1 regulator
ISO
mRNA:increased expression:retina:
RGD
PMID:12836167
RGD:1299297
NCBI chr 5:101,693,145...101,797,842
Ensembl chr 5:101,693,246...101,797,838
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PAX6
paired box 6
ISO
protein:increased expression:retina (rat)
RGD
PMID:23297010
RGD:8552379
NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
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PDGFB
platelet derived growth factor subunit B
ISO
protein:decreased expression:nerve fiber:
RGD
PMID:9893812
RGD:10449496
Ensembl chr 5:8,986,462...9,007,435
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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 chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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PLAU
plasminogen activator, urokinase
ISO
mRNA:increased expression:optic nerve (rat)
RGD
PMID:20798533
RGD:6483802
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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PTPN5
protein tyrosine phosphatase non-receptor type 5
ISO
protein:increased expression:retina (rat)
RGD
PMID:15555919
RGD:9835027
NCBI chr 2:40,458,865...40,521,470
Ensembl chr 2:40,459,049...40,521,461
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RHOA
ras homolog family member A
ISO
protein:increased expression, altered localization:retina
RGD
PMID:17534117
RGD:1642826
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
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SNW1
SNW domain containing 1
ISO
protein:increased expression:retina (rat)
RGD
PMID:25074585
RGD:11035254
NCBI chr 7:100,718,298...100,749,414
Ensembl chr 7:100,718,036...100,749,356
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TLR4
toll like receptor 4
ISO
protein:increased expression:optic nerve
RGD
PMID:23103505
RGD:7794777
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:14697498 PMID:18552980
RGD:7794683 RGD:8661743
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TRADD
TNFRSF1A associated via death domain
ISO
protein:increased expression: retina
RGD
PMID:18552980
RGD:7794683
NCBI chr 6:27,797,594...27,804,654
Ensembl chr 6:27,797,607...27,804,423
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YBX3
Y-box binding protein 3
ISO
mRNA:increased expression:retinal ganglion cell
RGD
PMID:11750989
RGD:2311250
NCBI chr 5:61,337,868...61,361,269
Ensembl chr 5:61,337,862...61,361,279
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TP53
tumor protein p53
ISO
RGD
PMID:22977862
RGD:8547771
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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ADRB2
adrenoceptor beta 2
ISO
mRNA:increased expression:Vestibulocochlear nerve:
RGD
PMID:22178544
RGD:8548530
NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
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