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.
G
BCHE
butyrylcholinesterase
severity
ISO
RGD
PMID:21540357
RGD:401960084
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
G
BDNF
brain derived neurotrophic factor
ISO
mRNA:increased expression:nucleus accumbens
RGD
PMID:31280332
RGD:596948400
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
G
BMAL1
basic helix-loop-helix ARNT like 1
ISO
mRNA:decreased expression:caudate-putamen (mouse)
RGD
PMID:15994025
RGD:405866348
NCBI chr11:13,276,652...13,387,266
Ensembl chr11:13,276,647...13,388,048
G
CARTPT
CART prepropeptide
IEP
mRNA:increased expression:nucleus accumbens
RGD
PMID:15009677
RGD:597805894
NCBI chr 5:71,719,275...71,721,045
Ensembl chr 5:71,719,275...71,721,048
G
CCL5
C-C motif chemokine ligand 5
severity
IEP
RGD
PMID:21806491
RGD:401794583
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
G
CD40LG
CD40 ligand
severity
IEP
RGD
PMID:21806491
RGD:401794583
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
G
CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
onset
IAGP
DNA:SNP:exon:rs16969968(human)
RGD
PMID:32841724
RGD:150530292
NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269
G
CHRNA6
cholinergic receptor nicotinic alpha 6 subunit
susceptibility
IAGP
DNA:SNP::rs892413(human)
RGD
PMID:24675634
RGD:405849277
NCBI chr 8:42,752,620...42,768,786
Ensembl chr 8:42,752,620...42,796,392
G
CHRNB4
cholinergic receptor nicotinic beta 4 subunit
onset
IAGP
DNA:SNP::rs950776(human)
RGD
PMID:32841724
RGD:150530292
NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754
G
CLOCK
clock circadian regulator
ISO
mRNA:increased expression:caudate-putamen (mouse)
RGD
PMID:15994025
RGD:405866348
NCBI chr 4:55,427,903...55,546,909
Ensembl chr 4:55,427,903...55,547,491
G
CNR2
cannabinoid receptor 2
treatment
ISO
RGD
PMID:31437433
RGD:598130084
NCBI chr 1:23,870,515...23,913,362
Ensembl chr 1:23,870,515...23,913,362
G
CREB1
cAMP responsive element binding protein 1
ISO
protein:increased expression, increased phosphorylation:prefrontal cortex
RGD
PMID:24205196 PMID:18001273
RGD:401940185 , RGD:401959587
NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
G
CRHBP
corticotropin releasing hormone binding protein
ameliorates
IAGP
associated with opioid abuse;DNA:SNP:3' utr:rs1500
RGD
PMID:30844877
RGD:617302492
NCBI chr 5:76,953,045...76,981,159
Ensembl chr 5:76,953,044...76,981,158
G
CRY1
cryptochrome circadian regulator 1
ISO
mRNA:decreased expression:caudate-putamen (mouse)
RGD
PMID:15994025
RGD:405866347
NCBI chr12:106,991,364...107,093,549
Ensembl chr12:106,991,364...107,093,855
G
FGF2
fibroblast growth factor 2
ISO
mRNA:increased expression:nucleus accumbens (rat)
RGD
PMID:27114539
RGD:405855871
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
G
FKBP5
FKBP prolyl isomerase 5
sexual_dimorphism
ISO
mRNA:increased expression:brain (rat)
RGD
PMID:31029877
RGD:401976486
NCBI chr 6:35,573,590...35,728,583
Ensembl chr 6:35,572,945...35,728,622
G
FOS
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
ISO
RGD
PMID:28366798
RGD:405100962
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
G
FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
associated with alcohol dependence;protein:increased expression: caudate-putamen (rat)
RGD
PMID:17572394 PMID:9294222
RGD:401900302 , RGD:407446380
NCBI chr19:45,467,996...45,475,179
Ensembl chr19:45,467,995...45,475,179
G
GRIA1
glutamate ionotropic receptor AMPA type subunit 1
sexual_dimorphism
ISO
protein:increased expression:prefrontal cortex (mouse) protein:increased expression:nucleus accumbens (rat) protein:decreased expression:nucleus accumbens (mouse)
RGD
PMID:33497752 PMID:11801363 PMID:22197517
RGD:401976469 , RGD:405650201 , RGD:405650197
NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
G
HCRT
hypocretin neuropeptide precursor
treatment
ISO
RGD
PMID:29454841
RGD:401960065
NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452
G
HOMER2
homer scaffold protein 2
ISO
RGD
PMID:29234834
RGD:617212664
NCBI chr15:82,834,661...82,986,157
Ensembl chr15:82,834,664...82,986,153
G
HTR1A
5-hydroxytryptamine receptor 1A
treatment
ISO
protein:decreased expression:dentate gyrus, hypothalamus
RGD
PMID:9723786 PMID:31437433
RGD:401900605 , RGD:598130084
NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507
G
HTR2A
5-hydroxytryptamine receptor 2A
treatment
ISO
mRNA:increased expression:orbitofrontal cortex
RGD
PMID:27733540 PMID:20814782 PMID:11259563
RGD:401900753 , RGD:401901179 , RGD:401900755
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
G
HTR2C
5-hydroxytryptamine receptor 2C
treatment
ISO
RGD
PMID:20814782
RGD:401901179
NCBI chr X:114,584,086...114,910,061
Ensembl chr X:114,584,078...114,910,061
G
MAPK1
mitogen-activated protein kinase 1
ISO
protein:increased phosphorylation:nucleus accumbens
RGD
PMID:25522720
RGD:401851063
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,755,537...21,867,680
G
MAPK3
mitogen-activated protein kinase 3
ISO
protein:increased phosphorylation:nucleus accumbens
RGD
PMID:25522720
RGD:401851063
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
G
MB
myoglobin
IEP
protein:increased expression:umbilical cord blood
RGD
PMID:8989474
RGD:458925290
NCBI chr22:35,606,764...35,623,354
Ensembl chr22:35,606,764...35,637,951
G
NPAS2
neuronal PAS domain protein 2
ISO
mRNA:decreased expression:hippocampal formation,caudate-putamen (mouse)
RGD
PMID:15994025
RGD:405866347
NCBI chr 2:100,818,723...100,996,829
Ensembl chr 2:100,820,091...100,996,829
G
NPY1R
neuropeptide Y receptor Y1
susceptibility
IAGP
DNA:SNP:intron: (rs4518200) (human)
RGD
PMID:33242852
RGD:402463938
NCBI chr 4:163,323,962...163,344,689
Ensembl chr 4:163,323,962...163,344,852
G
NR3C1
nuclear receptor subfamily 3 group C member 1
treatment
ISO IEP
mRNA:decreased expression:blood
RGD
PMID:12805318 PMID:29761890 PMID:9765324
RGD:401976288 , RGD:407987269 , RGD:401976376
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
G
NTRK2
neurotrophic receptor tyrosine kinase 2
treatment
ISO
mRNA:increased expression:nucleus accumbens
RGD
PMID:27576164 PMID:31280332
RGD:596948399 , RGD:596948400
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
G
OPRL1
opioid related nociceptin receptor 1
ISO
RGD
PMID:23219985
RGD:617148291
NCBI chr20:64,080,082...64,100,643
Ensembl chr20:64,079,967...64,100,649
G
PDYN
prodynorphin
ISO
mRNA:increased expression:caudate putamen mRNA:increased expression:central amygdaloid nucleus, dentate gyrus of hippocampal formation
RGD
PMID:7694032 PMID:12523490
RGD:401850578 , RGD:401850585
NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
G
PER1
period circadian regulator 1
ISO
mRNA:increased expression:hippocampal formation, caudate-putamen (mouse)
RGD
PMID:15994025
RGD:405866348
NCBI chr17:8,140,472...8,152,404
Ensembl chr17:8,140,467...8,156,506
G
PER2
period circadian regulator 2
ISO
mRNA:increased expression, decreased expression:hippocampal formation, caudate-putamen (mouse)
RGD
PMID:15994025
RGD:405866348
NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102
G
PNOC
prepronociceptin
ISO
RGD
PMID:23219985
RGD:617148291
NCBI chr 8:28,316,988...28,343,351
Ensembl chr 8:28,316,986...28,343,355
G
PRL
prolactin
treatment
IEP
RGD
PMID:17391744
RGD:401960113
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
G
TLR2
toll like receptor 2
ISO
protein:increased expression:striatum, microglial cell
RGD
PMID:26860188
RGD:597538483
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,708,537
G
TRPV1
transient receptor potential cation channel subfamily V member 1
treatment
ISO
RGD
PMID:31437433
RGD:598130084
NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all