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: Neuralgia
Accession: DOID:9005968
browse the term
Definition: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
Synonyms: exact_synonym: Atypical Neuralgia; Atypical Neuralgias; Iliohypogastric Nerve Neuralgia; Iliohypogastric Nerve Neuralgias; Ilioinguinal Neuralgia; Ilioinguinal Neuralgias; Nerve Pain; Nerve Pains; Neuralgias; Neurodynia; Neurodynias; Neuropathic Pain; Neuropathic Pains; Paroxysmal Nerve Pain; Paroxysmal Nerve Pains; Perineal Neuralgia; Perineal Neuralgias; Stump Neuralgia; Stump Neuralgias; Supraorbital Neuralgia; Supraorbital Neuralgias; Vidian Neuralgia; Vidian Neuralgias
primary_id: MESH:D009437
xref: EFO:0005762 ; EFO:0009430
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Adra2a
adrenoceptor alpha 2A
IEP
RGD
PMID:12946573
RGD:6893571
NCBI chr 1:263,066,780...263,069,580
Ensembl chr 1:253,060,218...253,064,365
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Adra2c
adrenoceptor alpha 2C
IEP
RGD
PMID:12946573
RGD:6893571
NCBI chr14:79,695,514...79,697,476
Ensembl chr14:75,471,143...75,472,846
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Ager
advanced glycosylation end product-specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25014009
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Aqp9
aquaporin 9
ameliorates
IMP
RGD
PMID:31746418
RGD:152995474
NCBI chr 8:80,678,027...80,718,273
Ensembl chr 8:71,797,234...71,837,395
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Cacna2d1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17442347 PMID:18400411 PMID:19339603 PMID:24133248
NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:18,951,002...19,374,969
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Cdk5
cyclin-dependent kinase 5
ameliorates
IMP
RGD
PMID:24659417
RGD:401940123
NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:10,754,687...10,760,112
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Cfl1
cofilin 1
treatment
IEP
associated with Sciatic Neuropathy
RGD
PMID:27216618
RGD:11568694
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
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Ctss
cathepsin S
IEP IMP
RGD
PMID:18700000 PMID:17551020
RGD:5686878 , RGD:5686911
NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483
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Ctsz
cathepsin Z
IEP
RGD
PMID:18700000
RGD:5686878
NCBI chr 3:183,643,077...183,653,847
Ensembl chr 3:163,224,875...163,235,645
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31432094
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17292584
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17720801
NCBI chr 1:255,476,861...255,484,547
Ensembl chr 1:245,535,462...245,541,573
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Drd1
dopamine receptor D1
IEP
RGD
PMID:22171983
RGD:6907447
NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,540,558...10,545,002
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Drd2
dopamine receptor D2
IMP IEP
RGD
PMID:22902996 PMID:22171983
RGD:6907443 , RGD:6907447
NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875
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Foxp3
forkhead box P3
treatment
IEP ISO
mRNA:increased expression: L4-L5 of the spinal cord
RGD
PMID:30858084 PMID:30858084
RGD:38599004 , RGD:38599004
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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Gal
galanin and GMAP prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18400411
NCBI chr 1:210,079,709...210,084,572
Ensembl chr 1:200,650,439...200,654,959
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Gch1
GTP cyclohydrolase 1
treatment
IMP
RGD
PMID:19922668
RGD:401700384
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698
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Gfra1
GDNF family receptor alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18400411
NCBI chr 1:267,325,297...267,557,037
Ensembl chr 1:257,321,742...257,551,473
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Gja1
gap junction protein, alpha 1
ISO
associated with Spinal Cord Injuries;
RGD
PMID:22951907
RGD:7364890
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
IEP
RGD
PMID:24659417
RGD:401940123
NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637
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Grk1
G protein-coupled receptor kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31432094
NCBI chr16:82,821,184...82,837,971
Ensembl chr16:76,123,842...76,135,792
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Grk2
G protein-coupled receptor kinase 2
treatment
IEP
RGD
PMID:24216329
RGD:13792703
NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:201,581,480...201,601,582
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Grm5
glutamate metabotropic receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840219
NCBI chr 1:150,722,711...151,297,585
Ensembl chr 1:141,312,368...141,882,274
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Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25014009
NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Htr1a
5-hydroxytryptamine receptor 1A
ISO
protein:increased expression:dorsal raphe nucleus
RGD
PMID:31045847
RGD:405849276
NCBI chr 2:38,427,169...38,431,733
Ensembl chr 2:36,694,174...36,695,442
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Htr2c
5-hydroxytryptamine receptor 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28011743
NCBI chr X:115,453,190...115,682,325
Ensembl chr X:110,641,153...110,870,287
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Il10
interleukin 10
treatment
IDA IMP ISO
RGD
PMID:16949747 PMID:25078297 PMID:24077211
RGD:1598632 , RGD:11049468 , RGD:7364865
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31432094
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903
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Itgam
integrin subunit alpha M
IEP
mRNA:increased expression:lumbar vertebra
RGD
PMID:15145554
RGD:1342461
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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Kdr
kinase insert domain receptor
IEP
RGD
PMID:20705122
RGD:5684389
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Mir135a
microRNA 135a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31432094
NCBI chr 7:28,499,166...28,499,265
Ensembl chr 7:26,611,990...26,612,089
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Mir135b
microRNA 135b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31432094
NCBI chr13:46,191,018...46,191,114
Ensembl chr13:43,638,857...43,638,953
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Mir154
microRNA 154
IMP
RGD
PMID:31746418
RGD:152995474
NCBI chr 6:134,574,352...134,574,435
Ensembl chr 6:128,752,947...128,753,030
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Mir208a
microRNA 208a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31432094
NCBI chr15:32,395,552...32,395,634
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Mir221
microRNA 221
treatment
IMP
RGD
PMID:27059231
RGD:151347419
NCBI chr X:6,023,182...6,023,290
Ensembl chr X:3,429,465...3,429,573
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Mir223
microRNA 223
treatment
IDA
RGD
PMID:28580822
RGD:25824768
NCBI chr X:65,151,383...65,151,492
Ensembl chr X:61,141,887...61,141,996
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Nfatc1
nuclear factor of activated T-cells 1
IEP
RGD
PMID:23386250
RGD:329337338
NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028
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Nfatc4
nuclear factor of activated T-cells 4
treatment
IEP
RGD
PMID:23386250
RGD:329337338
NCBI chr15:33,256,912...33,284,522
Ensembl chr15:29,305,535...29,314,610
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Nos1
nitric oxide synthase 1
treatment
IDA
RGD
PMID:23342771
RGD:7257658
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18400411
NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14718584 PMID:18400411
NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409
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P2ry12
purinergic receptor P2Y12
IMP
RGD
PMID:20665560
RGD:6480524
NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:143,481,430...143,523,361
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Pomc
proopiomelanocortin
treatment
IMP
RGD
PMID:23624847
RGD:407574732
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30152261
NCBI chr 1:237,818,950...239,052,184
Ensembl chr 1:228,408,947...229,639,080
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Scn10a
sodium voltage-gated channel alpha subunit 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18400411
NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:119,350,724...119,462,614
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Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19557861
NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516
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Socs1
suppressor of cytokine signaling 1
treatment
IEP
RGD
PMID:27059231
RGD:151347419
NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
treatment
IEP
RGD
PMID:33746000
RGD:150521727
NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476
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Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18400411
NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:35,679,704...35,687,178
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Tgfb1
transforming growth factor, beta 1
treatment
IEP
RGD
PMID:24979268
RGD:11073677
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tlr4
toll-like receptor 4
IEP
mRNA:increased expression:lumbar vertebra
RGD
PMID:15145554
RGD:1342461
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20846523
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31432094
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421
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Septin9
septin 9
ISO
ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Amyotrophy, hereditary neuralgic | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA)
ClinVar
PMID:16186812 PMID:17546647 PMID:18492087 PMID:19139049 PMID:19204161 PMID:19451530 PMID:20019224 PMID:20301569 PMID:22981636 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28503616 PMID:31619932 More...
NCBI chr10:102,908,557...103,077,789
Ensembl chr10:102,409,711...102,579,055
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:increased expression:dorsal root ganglion
RGD
PMID:25880108
RGD:407987076
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23382806
NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292
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Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23382806
NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516
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Bloc1s2
biogenesis of lysosomal organelles complex-1, subunit 2
IMP
RGD
PMID:16176350
RGD:2302154
NCBI chr 1:252,973,818...252,980,873
Ensembl chr 1:243,024,614...243,031,653
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Tnfrsf1b
TNF receptor superfamily member 1B
treatment
IDA
RGD
PMID:22425187
RGD:7245944
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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