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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



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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 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
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:15153618 RGD:4891994 NCBI chr 6:19,312,351...19,324,439 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 ISO RGD PMID:9013782 RGD:151665480 NCBI chr 5:17,314,322...17,350,726
Ensembl chr 5:17,314,276...17,350,722
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 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
JBrowse link
Optic Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CLU clusterin ISO RGD PMID:14577867 RGD:5129542 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G MYRF myelin regulatory factor ISO mRNA:decreased expression: oligodendrocyte RGD PMID:29915135 RGD:213230153 NCBI chr 2:9,761,230...9,795,873 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G NEFM neurofilament medium chain ISO RGD PMID:8501527 RGD:9743936 NCBI chr14:8,955,346...8,967,211 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 ISO RGD PMID:22977862 RGD:8547771 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Wounds and Injuries 937
      Nervous System Trauma 576
        Craniocerebral Trauma 350
          Cranial Nerve Injuries 80
            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 51
            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 17412
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3997
          neuropathy 3806
            cranial nerve disease 668
              Cranial Nerve Injuries 80
                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 51
                Trigeminal Nerve Injuries + 1
                Trochlear Nerve Injuries 0
                Vagus Nerve Injuries + 0
                Vestibulocochlear Nerve Injuries 1
paths to the root