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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:alcohol use disorder
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Accession:DOID:1574 term browser browse the term
Definition:A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. (DO)
Synonyms:exact_synonym: alcohol abuse;   chronic alcoholic intoxication;   ethanol abuse
 related_synonym: Beta-glycopyranoside tasting
 primary_id: MESH:D000437
 xref: ICD10CM:F10.1;   ICD9CM:305.0;   NCI:C20701
For additional species annotation, visit the Alliance of Genome Resources.


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alcohol use disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892 		JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide IMP RGD PMID:8462548 RGD:5129091 NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16404797 PMID:17590986 PMID:10780266 RGD:734551 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP protein:decreased expression:plasma RGD PMID:32135570 RGD:35673317 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO mRNA:increased expression:prefrontal cortex RGD PMID:28714806 RGD:18337277 NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600 		JBrowse link
G Cckar cholecystokinin A receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9922984 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747 		JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10395222 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Crh corticotropin releasing hormone IEP mRNA:increased expression:central amygdaloid nucleus (rat) RGD PMID:20060104 RGD:5508173 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO RGD PMID:11988580 RGD:734822 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma, extracellular exosome		 CTD
RGD		 PMID:20843640 PMID:29404485 PMID:29404485 PMID:23819932 RGD:14700911, RGD:14700911, RGD:14700915 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dbh dopamine beta-hydroxylase no_association ISO DNA:polymorphism:5' utr:g.-1021C>T (human)
DNA:polymorphism:cds:g.444G>A (human)		 RGD PMID:16133787 PMID:16252068 RGD:1625572, RGD:1625571 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Drd2 dopamine receptor D2 IEA GAD PMID:15118671 RGD:1331525 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit IEP RGD PMID:23095216 RGD:10045658 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit treatment IEP RGD PMID:22792289 RGD:401851082 NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465 		JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370 		JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 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 susceptibility ISO DNA:SNPs:multiple:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22253714 PMID:15024690 RGD:6480257 NCBI chr14:37,097,251...37,230,030
Ensembl chr14:37,097,279...37,228,944 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20585342 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12747453 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO CTD Direct Evidence: therapeutic CTD PMID:23977009 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:14573320 RGD:1642372 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO RGD PMID:14573320 PMID:16911840 RGD:1642372, RGD:1642200 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Hdac2 histone deacetylase 2 IMP RGD PMID:23485013 RGD:9590265 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A treatment IMP RGD PMID:9631953 RGD:401900760 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment ISO
IEP
IMP		 CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:cerebral cortex, liver
protein:increased expression:dorsal raphe, nucleus accumbens		 CTD
RGD		 PMID:20501057 PMID:9347075 PMID:9347073 PMID:9631953 RGD:401900301, RGD:401900740, RGD:401900742, RGD:401900760 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 IDA RGD PMID:24041931 RGD:401900761 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Htr3b 5-hydroxytryptamine receptor 3B susceptibility ISO DNA:SNP:cds:rs1176744(human) RGD PMID:20838391 RGD:6480660 NCBI chr 8:49,279,291...49,308,444
Ensembl chr 8:49,279,173...49,308,444 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO DNA:SNP:intron: (rs7916403) (human) RGD PMID:21184583 RGD:150429835 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO DNA:SNP:promoter:rs2836016 (human) RGD PMID:21307845 RGD:6483053 NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972 		JBrowse link
G Maoa monoamine oxidase A susceptibility ISO RGD PMID:15900229 RGD:1600720 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mcm5 minichromosome maintenance complex component 5 IEP RGD PMID:23095216 RGD:10045658 NCBI chr19:13,483,030...13,504,389
Ensembl chr19:13,483,066...13,504,389 		JBrowse link
G Mir191 microRNA 191 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 8:109,264,098...109,264,188 JBrowse link
G Mir195 microRNA 195 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mir206 microRNA 206 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 9:23,094,249...23,094,332
Ensembl chr 9:23,094,249...23,094,332 		JBrowse link
G Mir30a microRNA 30a onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:24966898 RGD:13207311 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:24966898 RGD:13207311 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Npy neuropeptide Y IAGP
ISO		 DNA:deletion:intron:g.4666_4674del (rat)
DNA:missense mutation: :p.L7P (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17572454 PMID:15749341 PMID:12215082 RGD:1357412, RGD:10430830 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18828811 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024 		JBrowse link
G Oprk1 opioid receptor, kappa 1 severity
no_association
susceptibility		 ISO DNA:SNP, haplotype: :rs6473797 (human)
DNA:SNP: :rs997917 (human)
DNA:SNP: :rs6473797 (human)		 RGD PMID:31004399 PMID:37177778 PMID:37177778 RGD:401831037, RGD:401850581, RGD:401850581 NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823 		JBrowse link
G Oprl1 opioid related nociceptin receptor 1 IMP RGD PMID:11814626 RGD:9835016 NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920 		JBrowse link
G Oprm1 opioid receptor, mu 1 no_association
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs510769
DNA:missense mutations, SNP:exon, intron:p.A6V, p.S147C, p.N40D (118A>G) (rs 1799971), IVS2+691G>C (human)
DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human)		 CTD
RGD		 PMID:12815747 PMID:26042510 PMID:9399694 PMID:32772383 RGD:401827930, RGD:401827934, RGD:401827947 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Pde4b phosphodiesterase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 5:116,799,819...117,369,155
Ensembl chr 5:116,799,971...117,367,696 		JBrowse link
G Pdyn prodynorphin susceptibility
no_association		 ISO
IEP		 CTD Direct Evidence: marker/mechanism
associated with cocaine dependence;DNA, mRNA:SNPs, haplotype:3' utr:rs910080, rs910079, rs2235749 (human)
DNA, mRNA:SNP, decreased expression:promoter, dorsolateral prefrontal cortex:rs1997794 (human)
DNA:SNP: :rs2281285 (human)
DNA:SNPs: :rs2281285, rs2225749, rs910080 (human)
mRNA, protein:decreased expression:hippocampus, granule cell		 CTD
RGD		 PMID:17559549 PMID:18923396 PMID:18923396 PMID:29925858 PMID:36099111 More... RGD:401850550, RGD:401850559, RGD:401850566, RGD:401850581, RGD:401851059 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Penk proenkephalin IEP mRNA:increased expression:frontal lobe: RGD PMID:22703995 RGD:10003152 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Rpl18a ribosomal protein L18A IEP mRNA:decreased expression:parietal cortex RGD PMID:11244494 RGD:11038708 NCBI chr16:18,542,555...18,544,578
Ensembl chr16:18,542,566...18,545,546 		JBrowse link
G Shbg sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 susceptibility ISO protein:decreased activity: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15520362 PMID:17000009 PMID:20838391 RGD:6480660 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18055133 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Spi1 Spi-1 proto-oncogene treatment IEP
IDA		 protein:decreased expression:alveolar macrophage RGD PMID:16272341 PMID:21447000 RGD:9586723, RGD:9586725 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 severity ISO mRNA,protein:decreased expression:liver: RGD PMID:17697868 RGD:10043133 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310 		JBrowse link
G Tacr1 tachykinin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204064 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733 		JBrowse link
G Tacr3 tachykinin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422838 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791 		JBrowse link
G Tas2r118 taste receptor, type 2, member 118 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16385453 PMID:17250611 NCBI chr 4:52,449,208...52,450,107
Ensembl chr 4:52,449,208...52,450,107 		JBrowse link
G Tas2r138 taste receptor, type 2, member 138 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17250611 NCBI chr 4:69,428,344...69,429,339
Ensembl chr 4:69,428,344...69,429,339 		JBrowse link
G Tbx19 T-box transcription factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11000917 PMID:21792595 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO RGD PMID:15654285 RGD:1580464 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    Chemically-Induced Disorders 1328
      substance-related disorder 635
        substance abuse 193
          alcohol use disorder 106
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              substance-related disorder 635
                Alcohol-Related Disorders 314
                  alcohol use disorder 106
paths to the root