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
Accession: DOID:9976
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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Abat
4-aminobutyrate aminotransferase
IMP
RGD
PMID:10900239
RGD:10046064
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15717844
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adra1a
adrenoceptor alpha 1A
susceptibility
ISO
DNA:SNP:exon 4: p.R347C (rs1048101) (human)
RGD
PMID:33577997
RGD:401940110
NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500
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Aldh2
aldehyde dehydrogenase 2 family member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:21723677
RGD:401959204
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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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
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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 chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Bche
butyrylcholinesterase
ISO
protein:increased activity:blood plasma (human)
RGD
PMID:30707402
RGD:401960085
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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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 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Chrm2
cholinergic receptor, muscarinic 2
ISO
DNA:SNP:intron:rs2350780 (human)
RGD
PMID:19500151
RGD:5509583
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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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 PMID:33544778 More...
RGD:401940110 , RGD:401940113 , RGD:401940140 , RGD:401940154 , RGD:401959234 , RGD:401959602
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
IDA ISO
DNA:SNP:exon:rs35349697
RGD
PMID:21362452 PMID:23062870 PMID:24704376
RGD:401901181 , RGD:401901182 , RGD:401938627
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
treatment
ISO
DNA:polymorphisms: :785A>G (rs2279343), 516G>T (rs3745274)(human)
RGD
PMID:21790905
RGD:11097675
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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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 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Drd1
dopamine receptor D1
IEP
RGD
PMID:28598964
RGD:13506959
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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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 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Drd3
dopamine receptor D3
IEP
RGD
PMID:28598964
RGD:13506959
NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
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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 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Fas
Fas cell surface death receptor
IEP
protein:increased expression:cerebral cortex (rat)
RGD
PMID:14530904
RGD:8686423
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fkbp5
FKBP prolyl isomerase 5
susceptibility
ISO
DNA:SNPs:intron,3'utr: (rs1360780,rs3800373) (human)
RGD
PMID:24845178
RGD:401976498
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ameliorates
IDA
RGD
PMID:21362452 PMID:23062870
RGD:401901181 , RGD:401901182
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)
RGD
PMID:26727527
RGD:11552767
NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
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Gabra2
gamma-aminobutyric acid type A receptor subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19833324
NCBI chr14:37,097,251...37,230,030
Ensembl chr14:37,097,279...37,228,944
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
DNA:SNP:intron: (rs211014) (human)
RGD
PMID:17440936
RGD:402525444
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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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 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gad2
glutamate decarboxylase 2
susceptibility
ISO
DNA:SNP: ::rs8190646(human)
RGD
PMID:19500151
RGD:5509583
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
treatment
ISO IEP
mRNA:increased expression:ventral striatum (human)
RGD
PMID:27863698 PMID:19940171
RGD:405096665 , RGD:4107717
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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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 chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Grm2
glutamate metabotropic receptor 2
IMP
RGD
PMID:30283001
RGD:38501063
NCBI chr 8:107,280,099...107,293,159
Ensembl chr 8:107,280,099...107,293,146
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Grm2em1
glutamate metabotropic receptor 2; endonuclease induced mutant 1
IMP
KO compared to wild-type rats
RGD
PMID:30283001
RGD:38501063
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Hcrt
hypocretin neuropeptide precursor
treatment
ISO
RGD
PMID:35984180
RGD:401960075
NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210
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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 8:49,242,018...49,254,475
Ensembl chr 8:49,242,020...49,254,389
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Kcnj6
potassium inwardly-rectifying channel, subfamily J, member 6
ISO
DNA:SNP: :rs2070995 (human)
RGD
PMID:20220551
RGD:6483055
NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15717844
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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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 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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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 chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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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 PMID:30171993 More...
RGD:401831045 , RGD:401976443 , RGD:401976533 , RGD:401976535 , RGD:401976557 , RGD:401977579
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
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 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
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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 PMID:28692418 PMID:32506472 More...
RGD:401827940 , RGD:401827950 , RGD:401827953 , RGD:401831044 , RGD:401831045 , RGD:401831047
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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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 PMID:30138645 PMID:21382455 More...
RGD:401850549 , RGD:401850554 , RGD:401850556 , RGD:401850561 , RGD:401850561 , RGD:401850562 , RGD:401850577
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Penk
proenkephalin
IMP
RGD
PMID:22683090
RGD:10003025
NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18201294
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Retn
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15717844
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Slc6a3
solute carrier family 6 member 3
IEP
RGD
PMID:28598964
RGD:13506959
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
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Ttc12
tetratricopeptide repeat domain 12
susceptibility
ISO
DNA:SNP:5'UTR,intron:rs7130431(human)
RGD
PMID:23303482
RGD:401959304
NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
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