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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:Cranial Nerve Injuries
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Accession:DOID:9000598 term browser 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
For additional species annotation, visit the Alliance of Genome Resources.



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Cranial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IEP mRNA:increased expression:superior cervical ganglion RGD PMID:16420416 RGD:2289006 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:15153618 RGD:4891994 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
Facial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcyap1 adenylate cyclase activating polypeptide 1 IEP mRNA:increased expression:facial VII nucleus RGD PMID:19427307 RGD:2325258 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:9813301 RGD:10047413 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cd59 CD59 molecule IEP mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Csf1 colony stimulating factor 1 IEP protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Ctss cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Hgf hepatocyte growth factor treatment IDA RGD PMID:21562589 RGD:8548634 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Mt3 metallothionein 3 treatment IDA RGD PMID:14625437 RGD:9685806 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 IEP mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
Hypoglossal Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1b activin A receptor type 1B IEP RGD PMID:9013782 RGD:151665480 NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 IEP mRNA:increased expression:hypoglossal nerve RGD PMID:11311987 RGD:5037239 NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP RGD PMID:9698327 RGD:704401 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Csnk2b casein kinase 2 beta IEP RGD PMID:11068334 RGD:11565824 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:9183688 RGD:8655640 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP RGD PMID:9183688 RGD:8655640 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP mRNA:increased expression:hypoglossal XII nerve RGD PMID:10407179 RGD:6218979 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Il1r1 interleukin 1 receptor type 1 IEP mRNA:increased expression:hypoglossal nerve RGD PMID:11311987 RGD:5037239 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
JBrowse link
G Mcam melanoma cell adhesion molecule IEP RGD PMID:10076889 RGD:7364787 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
JBrowse link
G Mme membrane metallo-endopeptidase IEP RGD PMID:8201016 RGD:13801045 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha IEP RGD PMID:7769990 RGD:7327191 NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta IEP RGD PMID:7769990 RGD:7327191 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:hypoglossal XII nerve RGD PMID:10407179 RGD:6218979 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Smad1 SMAD family member 1 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
JBrowse link
G Smad2 SMAD family member 2 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Smad3 SMAD family member 3 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Smad4 SMAD family member 4 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smad7 SMAD family member 7 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
JBrowse link
G Smad9 SMAD family member 9 IEP mRNA:decreased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
JBrowse link
G Txnrd1 thioredoxin reductase 1 IEP mRNA, protein:increased expression:neuron RGD PMID:19833109 RGD:5133729 NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
JBrowse link
Oculomotor Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP mRNA:increased expression:motor neuron RGD PMID:21456016 RGD:5684341 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
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 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 treatment IEP RGD PMID:23613963 RGD:14390159 NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20216911 RGD:2326035 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Aqp9 aquaporin 9 IEP RGD PMID:20216911 RGD:2326035 NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:10366744 RGD:10047417 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO
IEP
RGD PMID:15140649 PMID:11050383 PMID:9520478 RGD:8655584, RGD:8655586, RGD:8655637 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C3 complement C3 IEP mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cdk2 cyclin dependent kinase 2 IEP mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
JBrowse link
G Cfl1 cofilin 1 treatment IDA RGD PMID:27443501 RGD:11568693 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Clu clusterin IEP RGD PMID:14577867 RGD:5129542 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Csf1r colony stimulating factor 1 receptor IEP mRNA:increased expression:retina (rat) RGD PMID:20187850 RGD:151665810 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Ctsb cathepsin B IEP protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ednrb endothelin receptor type B IEP mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:14664816 RGD:8554854 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Gdnf glial cell derived neurotrophic factor IEP RGD PMID:15144875 RGD:6218970 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP RGD PMID:15144875 RGD:6218970 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Gfra2 GDNF family receptor alpha 2 IEP RGD PMID:15144875 RGD:6218970 NCBI chr15:45,941,841...46,033,715
Ensembl chr15:45,941,828...46,033,714
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:10366744 RGD:10047417 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:20216911 RGD:2326035 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Nefm neurofilament medium chain IEP RGD PMID:8501527 RGD:9743936 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
JBrowse link
G Neo1 neogenin 1 IEP protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
JBrowse link
G Ngfr nerve growth factor receptor IDA RGD PMID:20943663 RGD:5508695 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IDA RGD PMID:20943663 RGD:5508695 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IDA RGD PMID:20357199 RGD:5684908 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Pawr pro-apoptotic WT1 regulator IEP mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
JBrowse link
G Pax6 paired box 6 IEP protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 IEP protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Plau plasminogen activator, urokinase IEP mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 IEP protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882
JBrowse link
G Rhoa ras homolog family member A IEP protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Snw1 SNW domain containing 1 IEP protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chr 6:107,095,450...107,119,536
Ensembl chr 6:107,095,457...107,119,536
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP
ISO
RGD PMID:18552980 PMID:14697498 RGD:7794683, RGD:8661743 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tradd TNFRSF1A-associated via death domain IEP protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
JBrowse link
G Ybx3 Y box binding protein 3 IEP mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chr 4:165,129,747...165,153,101
Ensembl chr 4:165,129,758...165,153,161
JBrowse link
Trigeminal Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IEP RGD PMID:22977862 RGD:8547771 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 IEP mRNA:increased expression:Vestibulocochlear nerve: RGD PMID:22178544 RGD:8548530 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Wounds and Injuries 909
      Nervous System Trauma 559
        Craniocerebral Trauma 342
          Cranial Nerve Injuries 76
            Abducens Nerve Injury 0
            Accessory Nerve Injuries 0
            Facial Nerve Injuries 11
            Glossopharyngeal Nerve Injuries 0
            Hypoglossal Nerve Injuries 20
            Oculomotor Nerve Injuries 1
            Olfactory Nerve Injuries 0
            Optic Nerve Injuries 47
            Trigeminal Nerve Injuries + 1
            Trochlear Nerve Injuries 0
            Vagus Nerve Injuries + 0
            Vestibulocochlear Nerve Injuries 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        peripheral nervous system disease 3056
          neuropathy 2837
            cranial nerve disease 533
              Cranial Nerve Injuries 76
                Abducens Nerve Injury 0
                Accessory Nerve Injuries 0
                Facial Nerve Injuries 11
                Glossopharyngeal Nerve Injuries 0
                Hypoglossal Nerve Injuries 20
                Oculomotor Nerve Injuries 1
                Olfactory Nerve Injuries 0
                Optic Nerve Injuries 47
                Trigeminal Nerve Injuries + 1
                Trochlear Nerve Injuries 0
                Vagus Nerve Injuries + 0
                Vestibulocochlear Nerve Injuries 1
paths to the root