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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 IMP RGD PMID:10900239 RGD:10046064 NCBI chr10:7,503,351...7,599,474
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A treatment ISO associated with methadone treatment;DNA:SNP:intron (rs1128503) (human) RGD PMID:29173032 RGD:401976557 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Ache acetylcholinesterase ISO protein:increased activity:blood RGD PMID:31129131 RGD:405855848 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adra1a adrenoceptor alpha 1A susceptibility ISO DNA:SNP:exon 4: p.R347C (rs1048101) (human) RGD PMID:33577997 RGD:401940110 NCBI chr15:45,005,648...45,111,416
Ensembl chr15:40,832,534...40,927,500 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ameliorates IMP RGD PMID:33619816 RGD:408346756 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member susceptibility ISO DNA:polymorphism: : RGD PMID:21723677 RGD:401959204 NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521 		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:28854834 PMID:29550268 PMID:23840506 PMID:23303482 RGD:401959202, RGD:401959205, RGD:401959223, RGD:401959304 NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024 		JBrowse link
G Ap2m1 adaptor related protein complex 2 subunit mu 1 IEP protein:increased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr11:93,859,690...93,868,600
Ensembl chr11:80,328,041...80,364,140 		JBrowse link
G Arrb2 arrestin, beta 2 treatment ISO DNA:polymorphism: :rs1045280(human)
associated with methadone treatment;DNA:SNP:intron (rs1045280) (human)		 RGD PMID:33783060 PMID:29173032 RGD:401901593, RGD:401976557 NCBI chr10:55,645,539...55,653,485
Ensembl chr10:55,146,818...55,154,850 		JBrowse link
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 IEP protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr 7:35,622,267...35,731,904
Ensembl chr 7:33,735,871...33,843,295 		JBrowse link
G Bche butyrylcholinesterase ISO protein:increased activity:blood plasma (human) RGD PMID:30707402 RGD:401960085 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum		 CTD
RGD		 PMID:17715210 PMID:17715210 RGD:401976440 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO DNA:SNP:intron:rs2350780 (human) RGD PMID:19500151 RGD:5509583 NCBI chr 4:65,981,136...66,116,128
Ensembl chr 4:65,014,144...65,149,103 		JBrowse link
G Cnr1 cannabinoid receptor 1 treatment ISO DNA:SNP: :rs806368 RGD PMID:32481444 RGD:597805904 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099 		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:33577997 PMID:20728009 PMID:21857968 PMID:12476424 PMID:23155402 More... RGD:401940110, RGD:401940113, RGD:401940140, RGD:401940154, RGD:401959234, RGD:401959602 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 treatment IDA
ISO		 DNA:SNP:exon:rs35349697 RGD PMID:21362452 PMID:23062870 PMID:24704376 RGD:401901181, RGD:401901182, RGD:401938627 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Ctnnb1 catenin beta 1 IEP protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 treatment ISO DNA:polymorphisms: :785A>G (rs2279343), 516G>T (rs3745274)(human)
DNA:SNP: :rs16974799		 RGD PMID:21790905 PMID:32481444 RGD:11097675, RGD:597805904 NCBI chr 1:90,780,468...90,859,852
Ensembl chr 1:81,652,787...81,732,143 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 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 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Drd1 dopamine receptor D1 IEP RGD PMID:28598964 RGD:13506959 NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 onset
susceptibility		 ISO
IEP		 CTD Direct Evidence: marker/mechanism
DNA:SNPS:exon, intron:multiples(human)
DNA:SNP:intron:rs1079597(human)		 CTD
RGD		 PMID:11751029 PMID:28598964 PMID:28854834 PMID:23840506 RGD:13506959, RGD:401959202, RGD:401959223 NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 IEP RGD PMID:28598964 RGD:13506959 NCBI chr11:70,385,586...70,437,793
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd4 dopamine receptor D4 susceptibility
onset		 ISO DNA:SNPs:5promoter:rs1800955,rs936462(human)
DNA:polymorphism:promoter:-521G>A(human)
DNA:SNP,methylation::rs3758653(human)		 RGD PMID:23840506 PMID:18991844 PMID:34864042 RGD:401959223, RGD:401959594, RGD:401959595 NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:cerebral cortex (rat) RGD PMID:14530904 RGD:8686423 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 susceptibility ISO DNA:SNPs:intron,3'utr: (rs1360780,rs3800373) (human) RGD PMID:24845178 RGD:401976498 NCBI chr20:6,458,931...6,577,227
Ensembl chr20:6,457,216...6,541,674 		JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit ameliorates
treatment		 IDA
IEP		 RGD PMID:21362452 PMID:23062870 PMID:17165513 RGD:401901181, RGD:401901182, RGD:407571685 NCBI chr 1:88,082,324...88,089,506
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) RGD PMID:26727527 RGD:11552767 NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994 		JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19833324 NCBI chr14:37,451,218...37,587,458
Ensembl chr14:37,097,279...37,228,944 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 susceptibility ISO DNA:SNP:promoter:rs4906902(human)
DNA:SNP::rs7165224(human)		 RGD PMID:25025424 PMID:19500151 RGD:405866341, RGD:5509583 NCBI chr 1:117,602,772...117,838,230
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO DNA:SNP:intron: (rs211014) (human) RGD PMID:17440936 RGD:402525444 NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Gad1 glutamate decarboxylase 1 treatment
susceptibility		 ISO DNA:SNPs, haplotype:multiple:
DNA:SNPs,haplotypes:promoter,exon:rs1978340, rs3791878, rs11542313 (human)
DNA:SNP,haplotype: :rs2058725(human)		 RGD PMID:31866536 PMID:22564729 PMID:19500151 RGD:401900128, RGD:401900156, RGD:5509583 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gad2 glutamate decarboxylase 2 susceptibility ISO DNA:SNP: ::rs8190646(human) RGD PMID:19500151 RGD:5509583 NCBI chr17:89,671,718...89,734,246
Ensembl chr17:84,763,628...84,826,155 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO DNA:SNP: :rs2910709 RGD PMID:24022000 RGD:405849398 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO
IEP		 mRNA:increased expression:ventral striatum (human) RGD PMID:27863698 PMID:19940171 RGD:405096665, RGD:4107717 NCBI chr10:41,710,540...42,030,105
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 IEP protein:decreased expression:medial prefrontal cortex (rat)
protein:decreased expression:infralimbic area synaptosome (rat)		 RGD PMID:19160503 PMID:29134962 RGD:529195970, RGD:596920311 NCBI chr 2:168,247,490...168,367,616
Ensembl chr 2:165,947,521...166,069,510 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 IEP protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr  X:125,103,975...125,369,690
Ensembl chr  X:120,238,534...120,504,096 		JBrowse link
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 chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP protein:decreased expression:medial prefrontal cortex (rat) RGD PMID:19160503 RGD:529195970 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Grm2 glutamate metabotropic receptor 2 IMP RGD PMID:30283001 RGD:38501063 NCBI chr 8:116,158,810...116,171,857
Ensembl chr 8:107,280,099...107,293,146 		JBrowse link
G Grm2em1 glutamate metabotropic receptor 2; endonuclease induced mutant 1 IMP KO compared to wild-type rats RGD PMID:30283001 RGD:38501063
G Hcrt hypocretin neuropeptide precursor treatment ISO RGD PMID:35984180 RGD:401960075 NCBI chr10:86,190,289...86,191,524
Ensembl chr10:85,689,465...85,691,210 		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:26227246 PMID:19500151 RGD:405096480, RGD:5509583 NCBI chr 8:58,138,514...58,150,960
Ensembl chr 8:49,242,020...49,254,389 		JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO DNA:SNP: :rs2070995 (human) RGD PMID:20220551 RGD:6483055 NCBI chr11:47,531,312...47,778,348
Ensembl chr11:34,061,708...34,308,758 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		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 PMID:17715210 RGD:401965390, RGD:401976440 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 susceptibility ISO DNA:SNP, haplotype:intron: (rs4234955) (human)
DNA:SNP:intron: (rs4518200) (human)		 RGD PMID:29465008 PMID:24845178 RGD:402463944, RGD:401976498 NCBI chr16:27,804,416...27,814,070
Ensembl chr16:23,037,789...23,046,759 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 susceptibility ISO DNA:SNP, haplotype: :rs10482672 RGD PMID:29465008 RGD:402463944 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 treatment ISO DNA:SNPs: :multiple RGD PMID:23651024 RGD:401938595 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136 		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:multiple (multiple) (human)
DNA:SNP, haplotype:intron 1 (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:28692418 PMID:31907389 PMID:34031368 PMID:22500942 PMID:29173032 More... RGD:401831045, RGD:401976443, RGD:401976533, RGD:401976535, RGD:401976557, RGD:401977579 NCBI chr 5:149,590,244...149,624,999
Ensembl chr 5:144,306,188...144,340,960 		JBrowse link
G Oprk1 opioid receptor, kappa 1 treatment IMP
ISO		 DNA:SNP: :rs3802279, rs3802281, and rs963549 (human) RGD PMID:24725195 PMID:31940240 PMID:24305833 RGD:9831447, RGD:401827951, RGD:401850592 NCBI chr 5:18,657,866...18,675,671
Ensembl chr 5:13,860,021...13,877,823 		JBrowse link
G Oprl1 opioid related nociceptin receptor 1 treatment ISO DNA:SNP: :rs2229205 RGD PMID:32481444 RGD:597805904 NCBI chr 3:189,209,495...189,225,406
Ensembl chr 3:168,834,003...168,839,920 		JBrowse link
G Oprm1 opioid receptor, mu 1 severity
no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes: :rs696522, rs1381376, rs3778151 (human)
DNA:SNP, haplotype: :rs483481 (human)
DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human)
DNA:SNPs, haplotypes: :multiple
mRNA:splice variants:prefrontal cortex		 CTD
RGD		 PMID:20201854 PMID:17157823 PMID:32189578 PMID:11424981 PMID:28976288 More... RGD:401827940, RGD:401827950, RGD:401827953, RGD:401831044, RGD:401831045, RGD:401831047 NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Pdyn prodynorphin onset
susceptibility
no_association		 ISO DNA:repeat:promoter:rs35286251 (human)
mRNA:decreased expression:periamygdaloid cortex
DNA:SNP: :rs910080 (human)
DNA:SNPs, repeat:promoter:rs2281285, rs2235749, rs35286251 (human)
DNA:VNTR:promoter
DNA:VNTR, SNPs:rs1022563, rs2235749, rs910080 (human)		 RGD PMID:30936032 PMID:24231353 PMID:35271823 PMID:29911117 PMID:29911117 More... RGD:401850549, RGD:401850554, RGD:401850556, RGD:401850561, RGD:401850561, RGD:401850562, RGD:401850577 NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Penk proenkephalin IMP RGD PMID:22683090 RGD:10003025 NCBI chr 5:21,981,381...21,987,074
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Pomc proopiomelanocortin treatment ISO
IEP
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18201294 PMID:23771528 PMID:6316060 RGD:407431642, RGD:407572514 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Retn resistin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 IEP RGD PMID:28598964 RGD:13506959 NCBI chr 1:31,537,990...31,578,962
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Th tyrosine hydroxylase onset ISO DNA:SNP:5'utr:(rs10770140) (human) RGD PMID:32736537 RGD:405866368 NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO DNA:SNP: :rs1799913 RGD PMID:18181017 RGD:597621691 NCBI chr 1:106,293,695...106,314,628
Ensembl chr 1:97,157,409...97,178,344 		JBrowse link
G Tph2 tryptophan hydroxylase 2 treatment ISO DNA:SNPs: :rs4290270, rs7963720
DNA:SNP: :rs1386493		 RGD PMID:18181017 PMID:32481444 RGD:597621691, RGD:597805904 NCBI chr 7:52,571,909...52,676,305
Ensembl chr 7:50,685,694...50,789,424 		JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 susceptibility ISO DNA:SNP:5'UTR,intron:rs7130431(human) RGD PMID:23303482 RGD:401959304 NCBI chr 8:58,696,381...58,743,857
Ensembl chr 8:49,799,920...49,847,087 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Chemically-Induced Disorders 1467
      substance-related disorder 805
        Narcotic-Related Disorders 109
          opiate dependence 103
            heroin dependence 63
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              substance-related disorder 805
                substance dependence 211
                  drug dependence 128
                    opiate dependence 103
                      heroin dependence 63
paths to the root