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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:heroin dependence
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Accession:DOID:9976 term browser browse the term
Definition:An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. (DO)
Synonyms:exact_synonym: heroin abuse;   heroin addiction
 primary_id: MESH:D006556
 xref: EFO:0004240;   NCI:C34694

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heroin dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO RGD PMID:10900239 RGD:10046064 NCBI chr 5:8,274,310...8,380,973
Ensembl chr 5:8,315,952...8,379,549 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 treatment ISO associated with methadone treatment;DNA:SNP:intron (rs1128503) (human) RGD PMID:29173032 RGD:401976557 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) ISO protein:increased activity:blood RGD PMID:31129131 RGD:405855848 NCBI chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G ADRA1A adrenoceptor alpha 1A susceptibility ISO DNA:SNP:exon 4: p.R347C (rs1048101) (human) RGD PMID:33577997 RGD:401940110 NCBI chr 8:24,884,187...24,985,824
Ensembl chr 8:24,885,741...24,983,125 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ameliorates ISO RGD PMID:33619816 RGD:408346756 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member susceptibility ISO DNA:polymorphism: : RGD PMID:21723677 RGD:401959204 NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374 		JBrowse link
G ANKK1 ankyrin repeat and kinase domain containing 1 onset
susceptibility		 ISO DNA:SNPS:exon:rs17115439, rs7118900, rs1800497 (human)
DNA:SNPs, haplotypes:intron, 3'flanking:rs11214598, rs2859545(human)
DNA:SNP:exon:rs1800497(human)
DNA:SNPs:5'UTR,exon:rs877138, rs4938013(human)		 RGD PMID:23303482 PMID:23840506 PMID:28854834 PMID:29550268 RGD:401959202 RGD:401959205 RGD:401959223 RGD:401959304 NCBI chr 1:104,752,023...104,765,071 JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 ISO protein:increased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr15:5,242,025...5,251,272 JBrowse link
G ARRB2 arrestin beta 2 treatment ISO DNA:polymorphism: :rs1045280(human)
associated with methadone treatment;DNA:SNP:intron (rs1045280) (human)		 RGD PMID:29173032 PMID:33783060 RGD:401901593 RGD:401976557 NCBI chr16:4,191,040...4,202,382
Ensembl chr16:4,191,172...4,202,385 		JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr11:84,985,957...85,053,923
Ensembl chr11:84,989,169...85,103,957 		JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased activity:blood plasma (human) RGD PMID:30707402 RGD:401960085 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum		 CTD
RGD		 PMID:17715210 RGD:401976440 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO DNA:SNP:intron:rs2350780 (human) RGD PMID:19500151 RGD:5509583 NCBI chr21:105,574,879...105,730,265
Ensembl chr21:105,726,175...105,727,575 		JBrowse link
G COMT catechol-O-methyltransferase susceptibility
onset
severity		 ISO DNA:SNP:exon 5: (rs769224) (human)
DNA:SNP:exon 4: (rs4680) p.V158M (human)
DNA:SNP:exon 1: (rs737866) (Human)
DNA:SNP:-287A>G (human)
DNA:SNP:: (rs737866) (Human)
DNA:SNP:cd: p.V158M (human)		 RGD PMID:12476424 PMID:20728009 PMID:21857968 PMID:23155402 PMID:33544778 More... RGD:401940110 RGD:401940113 RGD:401940140 RGD:401940154 RGD:401959234 RGD:401959602 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO DNA:SNP:exon:rs35349697 RGD PMID:21362452 PMID:23062870 PMID:24704376 RGD:401901181 RGD:401901182 RGD:401938627 NCBI chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832 		JBrowse link
G CTNNB1 catenin beta 1 ISO protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 treatment ISO DNA:polymorphisms: :785A>G (rs2279343), 516G>T (rs3745274)(human) RGD PMID:21790905 RGD:11097675 NCBI chr 6:35,392,699...35,418,171
Ensembl chr 6:35,393,342...35,418,106 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment ISO DNA:SNP:exon:CYP2C19*2 (681G>A,rs4244285)(human)
DNA:SNPs::CYP2C19*2, CYP2C19*3(human)		 RGD PMID:24016178 PMID:24956251 RGD:401960868 RGD:401960881 NCBI chr 9:87,981,300...88,025,007 JBrowse link
G DRD1 dopamine receptor D1 ISO RGD PMID:28598964 RGD:13506959 NCBI chr23:77,587,340...77,591,434 JBrowse link
G DRD2 dopamine receptor D2 onset
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPS:exon, intron:multiples(human)
DNA:SNP:intron:rs1079597(human)		 RGD
CTD		 PMID:11751029 PMID:23840506 PMID:28598964 PMID:28854834 RGD:13506959 RGD:401959202 RGD:401959223 NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736 		JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:28598964 RGD:13506959 NCBI chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690 		JBrowse link
G DRD4 dopamine receptor D4 susceptibility
onset		 ISO DNA:SNPs:5promoter:rs1800955,rs936462(human)
DNA:SNP,methylation::rs3758653(human)
DNA:polymorphism:promoter:-521G>A(human)		 RGD PMID:18991844 PMID:23840506 PMID:34864042 RGD:401959223 RGD:401959594 RGD:401959595 NCBI chr 1:454,018...459,582 JBrowse link
G FKBP5 FKBP prolyl isomerase 5 susceptibility ISO DNA:SNPs:intron,3'utr: (rs1360780,rs3800373) (human) RGD PMID:24845178 RGD:401976498 NCBI chr17:36,432,595...36,551,233
Ensembl chr17:36,481,024...36,552,456 		JBrowse link
G FOSB FosB proto-oncogene, AP-1 transcription factor subunit ameliorates
treatment		 ISO RGD PMID:17165513 PMID:21362452 PMID:23062870 RGD:401901181 RGD:401901182 RGD:407571685 NCBI chr 6:38,916,039...38,924,129 JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 susceptibility ISO DNA:SNP:intron: C>G (rs29220) (human) RGD PMID:26727527 RGD:11552767 NCBI chr17:42,985,816...43,017,278
Ensembl chr17:42,986,513...43,014,577 		JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19833324 NCBI chr27:3,858,741...4,013,385
Ensembl chr27:3,858,910...4,006,582 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 susceptibility ISO DNA:SNP::rs7165224(human)
DNA:SNP:promoter:rs4906902(human)		 RGD PMID:19500151 PMID:25025424 RGD:405866341 RGD:5509583 NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO DNA:SNP:intron: (rs211014) (human) RGD PMID:17440936 RGD:402525444 NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		JBrowse link
G GAD1 glutamate decarboxylase 1 treatment
susceptibility		 ISO DNA:SNPs, haplotype:multiple:
DNA:SNP,haplotype: :rs2058725(human)
DNA:SNPs,haplotypes:promoter,exon:rs1978340, rs3791878, rs11542313 (human)		 RGD PMID:19500151 PMID:22564729 PMID:31866536 RGD:401900128 RGD:401900156 RGD:5509583 NCBI chr10:56,351,495...56,396,476
Ensembl chr10:56,353,253...56,396,524 		JBrowse link
G GAD2 glutamate decarboxylase 2 susceptibility ISO DNA:SNP: ::rs8190646(human) RGD PMID:19500151 RGD:5509583 NCBI chr 9:25,906,047...25,993,715
Ensembl chr 9:25,906,103...25,995,489 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO DNA:SNP: :rs2910709 RGD PMID:24022000 RGD:405849398 NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257 		JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO mRNA:increased expression:ventral striatum (human) RGD PMID:19940171 PMID:27863698 RGD:405096665 RGD:4107717 NCBI chr23:55,944,128...56,265,748
Ensembl chr23:56,101,294...56,265,849 		JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 ISO protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr 7:103,808,789...103,957,947
Ensembl chr 7:103,808,797...103,953,040 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A susceptibility ISO DNA:repeats,SNPs,haplotype:introns:(GT)26, rs3219790,rs1102972,rs1650420,rs3104703 (human)
DNA:repeats: :(GT)26 (human)		 RGD PMID:23940648 PMID:25366762 RGD:401938628 RGD:401938629 NCBI chr 5:9,233,028...9,707,322
Ensembl chr 5:9,286,775...9,462,828 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202 		JBrowse link
G GRM2 glutamate metabotropic receptor 2 ISO RGD PMID:30283001 RGD:38501063 NCBI chr22:13,044,974...13,056,469
Ensembl chr22:13,046,641...13,056,453 		JBrowse link
G HCRT hypocretin neuropeptide precursor treatment ISO RGD PMID:35984180 RGD:401960075 NCBI chr16:64,083,199...64,085,393
Ensembl chr16:64,084,070...64,085,292 		JBrowse link
G HTR3A 5-hydroxytryptamine receptor 3A ISO DSNA:SNPs:promoter, intron, CDS:g.113974819C>T, g.113985089A>G, g.113989703A>G (rs1150226, rs897687, rs1176713) (human)
DNA:SNPs, haplotype:multiple (human)		 RGD PMID:19500151 PMID:26227246 RGD:405096480 RGD:5509583 NCBI chr 1:105,359,139...105,375,217
Ensembl chr 1:105,359,730...105,374,664 		JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 ISO DNA:SNP: :rs2070995 (human) RGD PMID:20220551 RGD:6483055 NCBI chr 2:81,569,659...81,878,047 JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G NGF nerve growth factor treatment ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs2239622
protein:decreased expression:serum		 CTD
RGD		 PMID:17715210 PMID:21358750 RGD:401965390 RGD:401976440 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833 		JBrowse link
G NPY1R neuropeptide Y receptor Y1 susceptibility ISO DNA:SNP, haplotype:intron: (rs4234955) (human)
DNA:SNP:intron: (rs4518200) (human)		 RGD PMID:24845178 PMID:29465008 RGD:401976498 RGD:402463944 NCBI chr 7:109,774,700...109,794,543
Ensembl chr 7:109,774,918...109,776,905 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 susceptibility ISO DNA:SNP, haplotype: :rs10482672 RGD PMID:29465008 RGD:402463944 NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 treatment ISO DNA:SNPs: :multiple RGD PMID:23651024 RGD:401938595 NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364 		JBrowse link
G OPRD1 opioid receptor delta 1 onset
treatment		 ISO DNA:SNP: :rs508448 (human)
DNA:SNP:CDS:intron 1 (rs204047|rs797397) (human)
DNA:SNP, haplotype:intron 1 (multiple) (human)
DNA:SNP, haplotype:multiple (multiple) (human)
associated with methadone treatment;DNA:SNP:intron (rs529520) (human)
associated with stress-related disorder;DNA:SNP:coding synonymous,intron (rs2234918, rs2236857) (human)		 RGD PMID:22500942 PMID:28692418 PMID:29173032 PMID:30171993 PMID:31907389 More... RGD:401831045 RGD:401976443 RGD:401976533 RGD:401976535 RGD:401976557 RGD:401977579 NCBI chr20:103,950,505...104,002,459 JBrowse link
G OPRK1 opioid receptor kappa 1 treatment ISO DNA:SNP: :rs3802279, rs3802281, and rs963549 (human) RGD PMID:24305833 PMID:24725195 PMID:31940240 RGD:401827951 RGD:401850592 RGD:9831447 NCBI chr 8:49,337,308...49,364,724
Ensembl chr 8:49,341,427...49,362,947 		JBrowse link
G OPRM1 opioid receptor mu 1 severity
susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes: :rs696522, rs1381376, rs3778151 (human)
DNA:SNPs, haplotypes: :multiple
mRNA:splice variants:prefrontal cortex
DNA:SNP, haplotype: :rs483481 (human)
DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human)		 CTD
RGD		 PMID:11424981 PMID:17157823 PMID:20201854 PMID:28692418 PMID:28976288 More... RGD:401827940 RGD:401827950 RGD:401827953 RGD:401831044 RGD:401831045 RGD:401831047 NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088 		JBrowse link
G PDYN prodynorphin no_association
onset
susceptibility		 ISO DNA:SNPs, repeat:promoter:rs2281285, rs2235749, rs35286251 (human)
DNA:repeat:promoter:rs35286251 (human)
DNA:SNP: :rs910080 (human)
mRNA:decreased expression:periamygdaloid cortex
DNA:VNTR:promoter
DNA:VNTR, SNPs:rs1022563, rs2235749, rs910080 (human)		 RGD PMID:21382455 PMID:24231353 PMID:29911117 PMID:30138645 PMID:30936032 More... RGD:401850549 RGD:401850554 RGD:401850556 RGD:401850561 RGD:401850562 RGD:401850577 NCBI chr 2:54,535,516...54,551,085
Ensembl chr 2:54,535,240...54,551,104 		JBrowse link
G PENK proenkephalin ISO RGD PMID:22683090 RGD:10003025 NCBI chr 8:52,458,113...52,463,933
Ensembl chr 8:52,457,904...52,463,859 		JBrowse link
G POMC proopiomelanocortin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:6316060 PMID:18201294 PMID:23771528 RGD:407431642 RGD:407572514 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G RETN resistin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO RGD PMID:28598964 RGD:13506959 NCBI chr 4:1,209,013...1,258,797
Ensembl chr 4:1,209,019...1,258,866 		JBrowse link
G TH tyrosine hydroxylase onset ISO DNA:SNP:5'utr:(rs10770140) (human) RGD PMID:32736537 RGD:405866368 NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 susceptibility ISO DNA:SNP:5'UTR,intron:rs7130431(human) RGD PMID:23303482 RGD:401959304 NCBI chr 1:104,675,076...104,742,326
Ensembl chr 1:104,675,768...104,731,843 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    Chemically-Induced Disorders 1198
      substance-related disorder 619
        Narcotic-Related Disorders 96
          opiate dependence 91
            heroin dependence 56
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        central nervous system disease 11794
          brain disease 11073
            disease of mental health 7954
              substance-related disorder 619
                substance dependence 178
                  drug dependence 111
                    opiate dependence 91
                      heroin dependence 56
paths to the root