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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:substance dependence
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Accession:DOID:9973 term browser browse the term
Definition:A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. (DO)
Synonyms:primary_id: RDO:9002621
 xref: NCI:C35458
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
alcohol dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1 alcohol dehydrogenase 1 (class I) ISO
ISS
ClinVar Annotator: match by term: Alcohol dependence
OMIM:103780
ClinVar
MouseDO
PMID:3397059 PMID:3758060 PMID:10090900 PMID:15863807 PMID:17718394 PMID:17923853 NCBI chr 2:243,550,655...243,562,243
Ensembl chr 2:243,550,627...243,687,857
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: Alcohol dependence ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:16046871 PMID:16440063 PMID:17885622 PMID:18056758 PMID:20010786 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Avpr1b arginine vasopressin receptor 1B IEP RGD PMID:21309953 RGD:14700679 NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISS OMIM:103780 MouseDO NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 IEP protein:increased activity:plasma,liver,intestine: RGD PMID:6113606 RGD:14701046 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:29582627 RGD:14700988 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISS OMIM:103780 MouseDO NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
JBrowse link
G Lep leptin IDA
IEP
DNA:hypermethylation:promoter
protein:decreased expression:serum
RGD PMID:29912265, PMID:29912265 RGD:21201248, RGD:21201248 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISS OMIM:103780 MouseDO NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
cocaine dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd2 dopamine receptor D2 IMP RGD PMID:29454035 RGD:13506950 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
Drug Overdose term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:8527259 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: therapeutic CTD PMID:11914425 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
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 chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17715210 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO DNA:SNP:intron:rs2350780 (human) RGD PMID:19500151 RGD:5509583 NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
JBrowse link
G Drd1 dopamine receptor D1 IEP RGD PMID:28598964 RGD:13506959 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Drd2 dopamine receptor D2 ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:11751029, PMID:28598964 RGD:13506959 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 IEP RGD PMID:28598964 RGD:13506959 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:cerebral cortex (rat) RGD PMID:14530904 RGD:8686423 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19833324 NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
JBrowse link
G Grm2 glutamate metabotropic receptor 2 IMP RGD PMID:30283001 RGD:38501063 NCBI chr 8:115,344,999...115,358,628
Ensembl chr 8:115,344,999...115,358,046
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO DNA:SNP: :rs2070995 (human) RGD PMID:20220551 RGD:6483055 NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17715210 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Oprk1 opioid receptor, kappa 1 IMP RGD PMID:24725195 RGD:9831447 NCBI chr 5:13,742,655...13,760,460
Ensembl chr 5:13,744,658...13,760,305
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20201854 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Penk proenkephalin IMP RGD PMID:22683090 RGD:10003025 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18201294 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Retn resistin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15717844 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G Slc6a3 solute carrier family 6 member 3 IEP RGD PMID:28598964 RGD:13506959 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
morphine dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator treatment IDA RGD PMID:24906198 RGD:10054248 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:24906198 RGD:10054248 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11717377 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Drd2 dopamine receptor D2 IEP protein:decreased expression:hippocampus (rat) RGD PMID:18276072 RGD:2311587 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Fadd Fas associated via death domain severity IDA RGD PMID:21088039 RGD:11341805 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11404432 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878694 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20519536 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17989510 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nps neuropeptide S IDA RGD PMID:23684726 RGD:9831198 NCBI chr 1:207,508,414...207,512,195
Ensembl chr 1:207,508,414...207,512,195
JBrowse link
G Npsr1 neuropeptide S receptor 1 IEP RGD PMID:23684726 RGD:9831198 NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
JBrowse link
G Oprl1 opioid related nociceptin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11027224 NCBI chr 3:177,223,779...177,231,663
Ensembl chr 3:177,225,737...177,231,663
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3720824 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
nicotine dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418890 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NICOTINE DEPENDENCE, SUSCEPTIBILITY TO
CTD
ClinVar
PMID:18385676 PMID:18385738 PMID:18385739 PMID:19132693 PMID:19429911 PMID:19628476 PMID:20372150 PMID:20418890 PMID:20886544 PMID:22992668 PMID:23249876 PMID:24535486 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit susceptibility ISO ClinVar Annotator: match by term: Nicotine addiction, protection against
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15154117 PMID:25741868 PMID:26467025 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NICOTINE DEPENDENCE, SUSCEPTIBILITY TO
CTD
ClinVar
PMID:18385738 PMID:18385739 PMID:18618000 PMID:19443489 PMID:20372150 PMID:20643934 PMID:22648373 PMID:22992668 PMID:30453884 NCBI chr 8:59,561,817...59,590,172
Ensembl chr 8:59,561,721...59,590,172
JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418888 NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718
JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418888 NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418888 NCBI chr 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615
JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20418890 NCBI chr 1:83,969,456...83,977,665
Ensembl chr 1:83,969,457...83,977,236
JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20514075 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
JBrowse link
G Slc6a3 solute carrier family 6 member 3 susceptibility ISO ClinVar Annotator: match by term: Tobacco addiction, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:25741868 PMID:28263315 PMID:28492532 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
opiate dependence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmper BMP-binding endothelial regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 8:24,369,916...24,615,484
Ensembl chr 8:24,369,916...24,615,479
JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
JBrowse link
G Ces1d carboxylesterase 1D ISO CTD Direct Evidence: therapeutic CTD PMID:12679808 NCBI chr19:15,195,514...15,239,827
Ensembl chr19:15,033,108...15,239,821
JBrowse link
G Nav3 neuron navigator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 7:52,164,805...52,508,145
Ensembl chr 7:52,165,233...52,404,774
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO ClinVar Annotator: match by term: OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1 ClinVar PMID:9193881 PMID:9689128 PMID:11751037 PMID:11773858 PMID:11773859 PMID:12627468 PMID:15037869 PMID:15086512 PMID:15608594 PMID:16046395 PMID:16123758 PMID:16387451 PMID:16580900 PMID:16682632 PMID:16871067 PMID:16879459 PMID:16906017 PMID:17156920 PMID:17898703 PMID:18004207 PMID:18403122 PMID:19528658 PMID:19605407 PMID:19783098 PMID:21150856 PMID:21209234 PMID:21383334 PMID:21837673 PMID:21900886 PMID:21902500 PMID:22230405 PMID:22551036 PMID:22992668 PMID:23431434 PMID:23632726 PMID:23686330 PMID:24703092 PMID:24846673 PMID:25155931 PMID:25239082 PMID:25266679 PMID:25556837 PMID:25752520 PMID:26407542 PMID:26902643 PMID:28346387 PMID:28379874 PMID:28745577 PMID:29333880 PMID:29474345 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10321497 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G Ttc9 tetratricopeptide repeat domain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 6:105,364,668...105,399,500
Ensembl chr 6:105,364,668...105,399,500
JBrowse link
opioid abuse term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgs10 regulator of G-protein signaling 10 IEP RGD PMID:22056472 RGD:13524518 NCBI chr 1:199,782,076...199,823,440
Ensembl chr 1:199,782,078...199,823,386
JBrowse link
G Rgs2 regulator of G-protein signaling 2 IEP RGD PMID:19664213 RGD:13524573 NCBI chr13:60,846,458...60,849,061
Ensembl chr13:60,846,308...60,849,094
JBrowse link
G Rgs4 regulator of G-protein signaling 4 IEP RGD PMID:22056472 RGD:13524518 NCBI chr13:88,054,817...88,061,108
Ensembl chr13:88,054,817...88,061,108
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Chemically-Induced Disorders 1201
      substance-related disorder 615
        substance dependence 56
          alcohol dependence 9
          drug dependence + 40
          nicotine dependence 11
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              substance-related disorder 615
                substance dependence 56
                  alcohol dependence 9
                  drug dependence + 40
                  nicotine dependence 11
paths to the root