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.
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Ankk1
ankyrin repeat and kinase domain containing 1
treatment
ISO
DNA:SNP: :rs1800497(human)
RGD
PMID:23635803
RGD:401959203
NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024
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Arc
activity-regulated cytoskeleton-associated protein
ISO
protein:increased expression:dorsal striatum, shell of nucleus accumbens (mouse)
RGD
PMID:27567310
RGD:401901591
NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378
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Bdnf
brain-derived neurotrophic factor
ISO
RGD
PMID:14973246
RGD:401965389
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Camk4
calcium/calmodulin-dependent protein kinase IV
no_association
ISO
DNA:SNP: :rs919334 DNA:SNPs: :rs1457115, rs9285875
RGD
PMID:19001277 PMID:19001277
RGD:401938643 , RGD:401938643
NCBI chr18:24,582,988...24,811,918
Ensembl chr18:24,585,269...24,802,487
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Ccser1
coiled-coil serine-rich protein 1
susceptibility
ISO
DNA:SNP:: (rs1381355) (human)
RGD
PMID:18438686
RGD:401851917
NCBI chr 4:90,153,873...91,391,441
Ensembl chr 4:90,292,780...91,388,786
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Chrna3
cholinergic receptor nicotinic alpha 3 subunit
susceptibility
ISO
DNA:missense:exons:p.R37H,p.E363D(human)
RGD
PMID:24057674
RGD:405849397
NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
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Chrnb3
cholinergic receptor nicotinic beta 3 subunit
susceptibility
ISO
DNA:missense:exons:multiple(human)
RGD
PMID:24057674
RGD:405849397
NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
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Comt
catechol-O-methyltransferase
susceptibility
ISO
DNA:SNPs,haplotypes:exon: p.V158M (rs4680, rs737865, rs165688) (human)
RGD
PMID:18704099
RGD:401959302
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Creb1
cAMP responsive element binding protein 1
treatment no_association sexual_dimorphism
IEP ISO IDA
DNA:SNPs: :rs10876469, rs2177000 protein:increased phosphorylation:nucleus accumbens, prefrontal cortex
RGD
PMID:27664298 PMID:19001277 PMID:23665060 PMID:25522720
RGD:401900166 , RGD:401938643 , RGD:401851078 , RGD:401851063
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Drd2
dopamine receptor D2
treatment sexual_dimorphism
IMP ISO
DNA:SNP: :rs2283265(human) female only;DNA:SNP: :rs2283265(human)
RGD
PMID:29454035 PMID:23635803 PMID:30367264
RGD:13506950 , RGD:401959203 , RGD:401959597
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Egr1
early growth response 1
treatment
IEP
RGD
PMID:26674058
RGD:405100964
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment severity
IEP
protein:increased expression:brain mRNA:increased expression:brain protein:increased expression:habenula
RGD
PMID:26674058 PMID:24633559 PMID:18310906 PMID:18488248 PMID:29139213
RGD:405100964 , RGD:405100965 , RGD:405101699 , RGD:401959615 , RGD:401900161
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ameliorates treatment
IEP ISO
protein:increased expression:Nucleus Accumbens, Caudate Putamen (rat) protein:increased expression:Brain (rat) mRNA,protein:increased expression:Nucleus Accumbens, Caudate Putamen (rat) protein:increased expression:dorsal striatum, nucelus accumbens (mouse)
RGD
PMID:25522720 PMID:23665060 PMID:22403532 PMID:27664298 PMID:20633205 PMID:27380261 More...
RGD:401851063 , RGD:401851078 , RGD:401851084 , RGD:401900166 , RGD:401900126 , RGD:401901287
NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
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Gabbr1
gamma-aminobutyric acid type B receptor subunit 1
susceptibility
ISO
DNA:SNP:intron: C>G (rs29220) (human) mRNA:decreased expression:hippocampus (human)
RGD
PMID:22253714 PMID:26727527
RGD:401900163 , RGD:11552767
NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
mRNA:decreased expression:hippocampus (human)
RGD
PMID:22253714
RGD:401900163
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Gad1
glutamate decarboxylase 1
ISO
mRNA:decreased expression:hippocampus
RGD
PMID:22253714
RGD:401900163
NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gad2
glutamate decarboxylase 2
ISO
mRNA:decreased expression:hippocampus
RGD
PMID:22253714
RGD:401900163
NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
exacerbates treatment
IMP IEP ISO
protein:increased expression:ventral tegmental area (rat) protein:increased phosphorylation:hippocampal formation (mouse) protein:increased phosphorylation:prefrontal cortex, premotor cortex (rat) protein:increased expression:nucleus accumbens cell surface (rat) protein:increased expression, increased phosphorylation:hippocampal formation, postsynaptic density (mouse) protein:increased expression:nucleus accumbens (rat)
RGD
PMID:18430032 PMID:21613507 PMID:25539504 PMID:29196318 PMID:18554320 PMID:17439498 PMID:28495973 PMID:16207873 PMID:29089442 PMID:16794574 PMID:22127928 More...
RGD:405096666 , RGD:405100712 , RGD:405649730 , RGD:405649733 , RGD:405649734 , RGD:405650586 , RGD:405650670 , RGD:405818274 , RGD:405818277 , RGD:405820206 , RGD:405820210
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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Htr2a
5-hydroxytryptamine receptor 2A
treatment
ISO IMP
DNA:SNP: :rs6561333
RGD
PMID:23241418 PMID:23336050 PMID:15849375
RGD:401900299 , RGD:401900743 , RGD:401900756
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Htr2c
5-hydroxytryptamine receptor 2C
treatment
IMP
RGD
PMID:23336050
RGD:401900743
NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287
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Htr3a
5-hydroxytryptamine receptor 3A
ISO
DNA:SNPs, haplotype:exon, intron: (rs1985242, rs2276302, rs4938066) (human) DSNA:SNP:intron:g.113985089A>G (rs897687) (human)
RGD
PMID:24590108 PMID:26227246
RGD:404976878 , RGD:405096480
NCBI chr 8:49,242,018...49,254,475
Ensembl chr 8:49,242,020...49,254,389
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Klhl5
kelch-like family member 5
susceptibility
ISO
DNA:SNP:: (rs1046655) (human)
RGD
PMID:18438686
RGD:401851917
NCBI chr14:43,144,254...43,206,192
Ensembl chr14:43,144,257...43,184,238
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Lrrc7
leucine rich repeat containing 7
susceptibility
ISO
DNA:SNP: (rs1938584) (human)
RGD
PMID:18438686
RGD:401851917
NCBI chr 2:247,146,616...247,634,945
Ensembl chr 2:247,147,752...247,634,547
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Manea
mannosidase, endo-alpha
susceptibility
ISO
DNA:SNPs:multiple
RGD
PMID:19255376
RGD:401851915
NCBI chr 5:40,196,373...40,218,540
Ensembl chr 5:40,196,396...40,218,459
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Mapk1
mitogen activated protein kinase 1
IDA
protein:increased phosphorylation:brain
RGD
PMID:23665060
RGD:401851078
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
IDA
protein:increased phosphorylation:brain
RGD
PMID:23665060
RGD:401851078
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Ngf
nerve growth factor
ISO
protein:decreased expression:serum
RGD
PMID:17715210
RGD:401976440
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Oprd1
opioid receptor, delta 1
treatment susceptibility
ISO
DNA:SNP,haplotype:intron 1 (rs2298896|rs421300), multiple GCAAT (human) DNA:SNP:intron,cds (rs678849,rs2234918) (human) associated with opiate dependence;DNA:SNP:intron (rs678849) (human) associated with alcohol use disorder; DNA:SNP:intron (rs678849) (human) DNA:SNPs, haplotype:intron 1 (rs2298896|rs421300) (human)
RGD
PMID:17622222 PMID:22795689 PMID:33953123 PMID:27449273 PMID:24533225
RGD:401976552 , RGD:401976559 , RGD:402463937 , RGD:402463960 , RGD:402525443
NCBI chr 5:144,306,188...144,340,960
Ensembl chr 5:144,306,188...144,340,960
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Oprk1
opioid receptor, kappa 1
ISO
DNA:SNPs:intron:rs6473797, rs10111937
RGD
PMID:34843875
RGD:401851040
NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
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Oprm1
opioid receptor, mu 1
ISO
mRNA:increased expression:nucleus accumbens
RGD
PMID:29992335
RGD:401831041
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdyn
prodynorphin
susceptibility
ISO
DNA, mRNA:SNPs, haplotype:3' utr:rs910080, rs910079, rs2235749 (human) DNA:VNTR:Promoter mRNA:increased expression:caudate-putamen mRNA:increased expression:nucleus accumbens
RGD
PMID:18923396 PMID:16184603 PMID:23164614 PMID:22390687
RGD:401850550 , RGD:401850583 , RGD:401850589 , RGD:401851043
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Per2
period circadian regulator 2
susceptibility
ISO
DNA:repeats::
RGD
PMID:22832851
RGD:401976513
NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
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Ppbp
pro-platelet basic protein
ISO
protein:increased expression:plasma
RGD
PMID:21806491
RGD:401794583
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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Prl
prolactin
severity
ISO
protein:decreased expression:blood serum (human) protein:increased expression:blood serum (human) protein:increased expression:blood plasma (human)
RGD
PMID:16915581 PMID:15064918 PMID:2243892
RGD:401959377 , RGD:401959381 , RGD:401960099
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Rabep2
rabaptin, RAB GTPase binding effector protein 2
IEP
protein:increased expression:brain
RGD
PMID:9789813
RGD:405255653
NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
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Sirt1
sirtuin 1
IEP
protein:increased expression:brain, nucleus accumbens (rat)
RGD
PMID:27664298
RGD:401900166
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt2
sirtuin 2
treatment
IEP
RGD
PMID:27664298
RGD:401900166
NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
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Tenm3
teneurin transmembrane protein 3
susceptibility
ISO
DNA:SNP:: (rs1514483) (human)
RGD
PMID:18438686
RGD:401851917
NCBI chr16:41,251,909...43,978,594
Ensembl chr16:41,252,182...43,978,594
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