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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:cocaine dependence
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Accession:DOID:9975 term browser browse the term
Definition:A drug dependence that is a psychological dependency on the regular use of cocaine. (DO)
Synonyms:exact_synonym: cocaine addiction;   cocaine dependences
 xref: EFO:0002610;   ICD10CM:F14.2;   ICD9CM:304.2;   NCI:C34492



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cocaine dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Chemically-Induced Disorders 1411
      substance-related disorder 735
        Cocaine-Related Disorders 151
          cocaine dependence 38
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        central nervous system disease 12589
          brain disease 11814
            disease of mental health 8411
              substance-related disorder 735
                substance dependence 157
                  drug dependence 102
                    cocaine dependence 38
paths to the root