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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;   RDO:0007350
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740 		JBrowse link
G 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 		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 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Csf1 colony stimulating factor 1 IEP protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560 		JBrowse link
G 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 		JBrowse link
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Hypoglossal Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676 		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 3:164,937,188...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
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 chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		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 chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Wounds and Injuries 860
      Nervous System Trauma 543
        Craniocerebral Trauma 337
          Cranial Nerve Injuries 74
            Abducens Nerve Injury 0
            Accessory Nerve Injuries 0
            Facial Nerve Injuries 11
            Glossopharyngeal Nerve Injuries 0
            Hypoglossal Nerve Injuries 19
            Oculomotor Nerve Injuries 1
            Olfactory Nerve Injuries 0
            Optic Nerve Injuries 46
            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 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            cranial nerve disease 414
              Cranial Nerve Injuries 74
                Abducens Nerve Injury 0
                Accessory Nerve Injuries 0
                Facial Nerve Injuries 11
                Glossopharyngeal Nerve Injuries 0
                Hypoglossal Nerve Injuries 19
                Oculomotor Nerve Injuries 1
                Olfactory Nerve Injuries 0
                Optic Nerve Injuries 46
                Trigeminal Nerve Injuries + 1
                Trochlear Nerve Injuries 0
                Vagus Nerve Injuries + 0
                Vestibulocochlear Nerve Injuries 1
paths to the root