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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.


show annotations for term's descendants           Sort by:
alcohol use disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADS acyl-CoA dehydrogenase short chain susceptibility ISO DNA:SNP:: (rs1799958) (human) RGD PMID:20554694 RGD:401976551 NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194 		JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO RGD PMID:8462548 RGD:5129091 NCBI chr32:21,249,459...21,261,130
Ensembl chr32:21,249,739...21,265,048 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10780266 PMID:16404797 PMID:17590986 RGD:734551 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ANKK1 ankyrin repeat and kinase domain containing 1 severity ISO DNA:polymorphism: :rs1800497(human)
DNA:SNP,haplotype: :rs11604671, rs4938015 (human)		 RGD PMID:21936764 PMID:32889058 RGD:401940151 RGD:401959296 NCBI chr 5:19,801,511...19,814,359
Ensembl chr 5:19,801,542...19,814,481 		JBrowse link
G ARC activity regulated cytoskeleton associated protein ISO associated with Prenatal Exposure Delayed Effects and anxiety disorder:DNA:Hypermthylation:promoter RGD PMID:30016666 RGD:401959614 NCBI chr13:36,743,027...36,744,266 JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:decreased expression:plasma
mRNA,protein:decreased expression:hippocampus, plasma (rat)
protein:decreased expression:plasma (human)
mRNA:decreased expression:hippocampus
protein:altered expression:brain
protein:decreased expression:cerebellum, hippocampus		 RGD PMID:15307153 PMID:19100286 PMID:30277635 PMID:32135570 PMID:32497709 RGD:35673317 RGD:401938665 RGD:401950485 RGD:401965482 RGD:401976492 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G CALB1 calbindin 1 ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:30277635 RGD:401938665 NCBI chr29:35,551,836...35,572,985
Ensembl chr29:35,552,436...35,572,925 		JBrowse link
G CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 ISO mRNA:increased expression:prefrontal cortex RGD PMID:28714806 RGD:18337277
G CAMK4 calcium/calmodulin dependent protein kinase IV ISO protein:decreased expression:brain, cingulate gyrus RGD PMID:11181917 RGD:401959326 NCBI chr 3:1,174,975...1,369,640
Ensembl chr 3:1,180,401...1,369,803 		JBrowse link
G CAST calpastatin ISO protein:increased expression:gastrocnemius (rat) RGD PMID:28800153 RGD:405100967 NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959 		JBrowse link
G CAT catalase treatment ISO associated with diabetes;protein:decreased activity:liver, kidney (rat)
associated with cardiomyopathy
associated with diabetes; protein:decreased activity;testis, epididymis (rat)
associated with cognitive disorder; protein:altered activity:hippocampus (rat)		 RGD PMID:7195942 PMID:21713042 PMID:22596042 PMID:25541261 PMID:27367870 RGD:405255659 RGD:405255660 RGD:405255662 RGD:405255663 RGD:405255664 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CCKAR cholecystokinin A receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9922984 NCBI chr 3:84,010,700...84,019,066
Ensembl chr 3:84,010,205...84,021,293 		JBrowse link
G CDK20 cyclin dependent kinase 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 1:97,623,126...97,662,668
Ensembl chr 1:97,622,998...97,662,662 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 NCBI chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246 		JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 NCBI chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468 		JBrowse link
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit severity ISO DNA:haplotypes: : RGD PMID:19698703 RGD:405849410 NCBI chr16:22,990,377...23,009,257
Ensembl chr16:22,990,167...23,009,106 		JBrowse link
G CLOCK clock circadian regulator susceptibility ISO DNA:SNP:: (rs2412648) (human) RGD PMID:20554694 RGD:401976551 NCBI chr13:47,684,409...47,825,733
Ensembl chr13:47,691,709...47,758,784 		JBrowse link
G CNR1 cannabinoid receptor 1 sexual_dimorphism ISO associated with chronic stress in female rats RGD PMID:27894930 RGD:401959751 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983 		JBrowse link
G COMT catechol-O-methyltransferase disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism::
DNA:polymorphism: :rs4680(human)		 CTD
RGD		 PMID:10395222 PMID:32889058 RGD:401940114 RGD:401940151 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 sexual_dimorphism ISO mRNA, protein:decreased expression:amygdala
protein:altered expression, altered phosphorylation:liver, nucleus
protein:increased phosphorylation:liver		 RGD PMID:22269225 PMID:29991681 PMID:31262967 RGD:401938626 RGD:401959317 RGD:401959334 NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556 		JBrowse link
G CREBBP CREB binding protein ISO mRNA, protein:decreased expression:amygdala RGD PMID:29991681 RGD:401938626 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G CRH corticotropin releasing hormone ISO mRNA:increased expression:central amygdaloid nucleus (rat) RGD PMID:20060104 RGD:5508173 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384 		JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO RGD PMID:11988580 RGD:734822 NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma, extracellular exosome		 RGD
CTD		 PMID:20843640 PMID:23819932 PMID:29404485 RGD:14700911 RGD:14700915 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754 		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:1625571 RGD:1625572 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DCX doublecortin ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:30277635 RGD:401938665 NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO associated with Prenatal Exposure Delayed Effects and anxiety disorder:mRNA,protein:decreased expression:brain (mouse) RGD PMID:30016666 RGD:401959614 NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126 		JBrowse link
G DRD4 dopamine receptor D4 treatment
susceptibility		 ISO DNA:repeats:exon:
associated with peer pressure;DNA:repeats:exon:		 RGD PMID:25640830 PMID:26307243 RGD:11064848 RGD:401959598
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23095216 RGD:10045658 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602 		JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO mRNA:increased expression:cerebellum RGD PMID:34453331 RGD:401938639 NCBI chr  X:116,249,079...116,287,008
Ensembl chr  X:116,249,142...116,321,439 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO protein:increased expression:parvocellular oculomotor nucleus
protein:increased expression:brain		 RGD PMID:11164784 PMID:14741756 PMID:29210146 RGD:405255650 RGD:405255652 RGD:405295495 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G FOSB FosB proto-oncogene, AP-1 transcription factor subunit treatment ISO protein:increased expression:brain (mouse)
protein:increased expression:dorsal striatum (mouse)		 RGD PMID:9835277 PMID:22792289 PMID:27380261 RGD:401851082 RGD:401901184 RGD:401901287 NCBI chr 1:110,088,686...110,092,818
Ensembl chr 1:110,087,036...110,092,818 		JBrowse link
G FSHB follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr21:50,279,320...50,282,843
Ensembl chr21:50,280,208...50,282,680 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr35:26,212,274...26,243,910
Ensembl chr35:26,213,076...26,237,572 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 susceptibility ISO DNA:SNP:intron: (rs2900512) (human) RGD PMID:28118741 RGD:401940105 NCBI chr11:55,469,327...55,817,930
Ensembl chr11:55,470,197...55,817,945 		JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 susceptibility ISO DNA:SNPs:multiple:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15024690 PMID:22253714 RGD:6480257 NCBI chr13:42,367,988...42,488,069
Ensembl chr13:42,368,949...42,488,075 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20585342 NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO protein:increased expression:serum
DNA:hypomethylation:nucleus accumbens		 RGD PMID:22238721 PMID:25623403 PMID:31710958 RGD:401965480 RGD:405820205 RGD:405849387 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12747453 NCBI chr26:28,301,455...28,315,029 JBrowse link
G GHSR growth hormone secretagogue receptor ISO CTD Direct Evidence: therapeutic CTD PMID:23977009 NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312 		JBrowse link
G GPHN gephyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr 8:40,585,625...41,204,007
Ensembl chr 8:40,585,883...41,203,245 		JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:increased phosphorylation:lumbar spinal cord (mouse)
protein:increased expression:nucleus accumbens (rat)
protein:increased expression, increased phosphorylation:cingulate cortex (rat)
protein:increased expression:nucleus accumbens (mouse)
protein:decreased expression:neocortex (rat)		 RGD PMID:12036520 PMID:21041654 PMID:28585190 PMID:34280506 RGD:405100727 RGD:405650686 RGD:405818275 RGD:405820203 NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:14573320 RGD:1642372 NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO RGD PMID:14573320 PMID:16911840 RGD:1642200 RGD:1642372 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		JBrowse link
G HDAC2 histone deacetylase 2 ISO RGD PMID:23485013 RGD:9590265 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578 		JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A treatment ISO RGD PMID:9631953 RGD:401900760 NCBI chr 2:50,005,277...50,006,548
Ensembl chr 2:50,002,740...50,006,548 		JBrowse link
G HTR1B 5-hydroxytryptamine receptor 1B no_association
sexual_dimorphism
onset		 ISO DNA:SNPs: :multiples (human)
associated with attention deficit hyperactivity disorder;DNA:SNP: :rs11568817(human)
DNA:SNP: :rs13212041 (human)		 RGD PMID:11496363 PMID:28923721 PMID:30774345 RGD:405650695 RGD:405818272 RGD:405847403 NCBI chr12:38,659,088...38,659,546 JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:cerebral cortex, liver
protein:increased expression:dorsal raphe, nucleus accumbens		 CTD
RGD		 PMID:9347073 PMID:9347075 PMID:9631953 PMID:20501057 RGD:401900301 RGD:401900740 RGD:401900742 RGD:401900760 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037 		JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C treatment ISO RGD PMID:24041931 RGD:401900761 NCBI chr  X:87,342,800...87,641,224
Ensembl chr  X:87,342,792...87,638,579 		JBrowse link
G HTR3B 5-hydroxytryptamine receptor 3B susceptibility ISO DNA:SNP:cds:rs1176744(human) RGD PMID:20838391 RGD:6480660 NCBI chr 5:19,361,011...19,393,206
Ensembl chr 5:19,362,382...19,414,912 		JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO DNA:SNP:intron: (rs7916403) (human) RGD PMID:21184583 RGD:150429835 NCBI chr28:5,438,872...5,524,385
Ensembl chr28:5,440,388...5,524,191 		JBrowse link
G IGF2 insulin like growth factor 2 ISO protein:decreased expression:plasma (human) RGD PMID:30277635 RGD:401938665 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IL10 interleukin 10 ISO mRNA:increased expression:liver RGD PMID:22269225 RGD:401959317 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 ISO DNA:SNP:promoter:rs2836016 (human) RGD PMID:21307845 RGD:6483053 NCBI chr31:32,752,585...33,010,999
Ensembl chr31:32,755,899...32,934,478 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr 1:107,382,855...107,384,029 JBrowse link
G LOC477072 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11000917 PMID:21792595 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845 		JBrowse link
G MAOA monoamine oxidase A susceptibility ISO RGD PMID:15900229 RGD:1600720 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO protein:increased expression:liver RGD PMID:31262967 RGD:401959334 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:31262967 RGD:401959334 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO protein:increased expression:liver RGD PMID:31262967 RGD:401959334 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:31262967 RGD:401959334 NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401 		JBrowse link
G MCM5 minichromosome maintenance complex component 5 ISO RGD PMID:23095216 RGD:10045658 NCBI chr10:28,721,421...28,738,457
Ensembl chr10:28,721,660...28,738,390 		JBrowse link
G MIR191 microRNA mir-191 onset ISO RGD PMID:32135570 RGD:35673317 NCBI chr20:40,144,135...40,144,198
Ensembl chr20:40,144,121...40,144,210 		JBrowse link
G MIR195 microRNA mir-195 onset ISO RGD PMID:32135570 RGD:35673317 NCBI chr 5:32,045,450...32,045,510
Ensembl chr 5:32,045,450...32,045,510 		JBrowse link
G MIR206 microRNA mir-206 onset ISO RGD PMID:32135570 RGD:35673317 NCBI chr12:19,805,523...19,805,582
Ensembl chr12:19,805,523...19,805,582 		JBrowse link
G MIR30A microRNA mir-30a onset ISO RGD PMID:32135570 RGD:35673317 NCBI chr12:33,783,894...33,783,956
Ensembl chr12:33,783,891...33,783,961 		JBrowse link
G MKI67 marker of proliferation Ki-67 ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:30277635 RGD:401938665 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:24966898 RGD:13207311 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:24966898 RGD:13207311 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 treatment
sexual_dimorphism 		ISO mRNA:decreased expression:hippocampus (rat)
associated with chronic stress in female rats		 RGD PMID:16207289 PMID:27894930 PMID:30277635 RGD:401938665 RGD:401959613 RGD:401959751 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995 		JBrowse link
G NGF nerve growth factor ISO protein:increased expression:serum
protein:decreased expression:brain
protein:decreased expression:cerebral cortex, hippocampus		 RGD PMID:15307153 PMID:19100286 PMID:25623403 RGD:401965480 RGD:401965482 RGD:401976492 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		JBrowse link
G NPY neuropeptide Y ISO DNA:deletion:intron:g.4666_4674del (rat)
DNA:missense mutation: :p.L7P (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12215082 PMID:15749341 PMID:17572454 RGD:10430830 RGD:1357412 NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443 		JBrowse link
G NPY2R neuropeptide Y receptor Y2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18828811 NCBI chr15:52,790,136...52,797,785
Ensembl chr15:52,794,671...52,795,818 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 treatment
sexual_dimorphism 		ISO RGD PMID:29437012 PMID:30171933 PMID:33007359 RGD:401965466 RGD:401966865 RGD:401976281 NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131 		JBrowse link
G NRG1 neuregulin 1 sexual_dimorphism ISO in female, associated with stressful life event;DNA:SNP: :rs6994992(human) RGD PMID:27353026 RGD:405100235 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932 		JBrowse link
G NTF3 neurotrophin 3 ISO mRNA,protein:decreased expression:hippocampus, plasma (rat)
protein:decreased expression:plasma (human)
protein:increased expression:brain		 RGD PMID:15307153 PMID:30277635 RGD:401938665 RGD:401965482 NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO associated with Prenatal Exposure Delayed Effects and anxiety disorder:protein:decreased acetylation:brain RGD PMID:8840027 PMID:30016666 RGD:401959614 RGD:401965407 NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032 		JBrowse link
G OPRD1 opioid receptor delta 1 ISO associated with stress-related disorder; mRNA:decreased expression:dorsal striatum (rat)
DNA:SNPs, haplotype:intron 1:multiple (human)		 RGD PMID:7501658 PMID:24533225 PMID:28511993 RGD:401976432 RGD:401976439 RGD:402525443 NCBI chr 2:71,685,129...71,721,692
Ensembl chr 2:71,689,084...71,721,875 		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)
associated with stress-related disorder; mRNA:decreased expression:dorsal striatum (rat)		 RGD PMID:28511993 PMID:31004399 PMID:37177778 RGD:401831037 RGD:401850581 RGD:401976432 NCBI chr29:5,022,270...5,054,223
Ensembl chr29:5,025,786...5,051,919 		JBrowse link
G OPRL1 opioid related nociceptin receptor 1 ISO RGD PMID:11814626 RGD:9835016 NCBI chr24:47,530,039...47,537,477
Ensembl chr24:47,508,136...47,537,250 		JBrowse link
G OPRM1 opioid receptor mu 1 no_association
treatment		 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations, SNP:exon, intron:p.A6V, p.S147C, p.N40D (118A>G) (rs 1799971), IVS2+691G>C (human)
DNA:SNP: :rs510769
DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human)		 CTD
RGD		 PMID:9399694 PMID:12815747 PMID:26042510 PMID:32772383 RGD:401827930 RGD:401827934 RGD:401827947 NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238 		JBrowse link
G PDE4B phosphodiesterase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 5:44,063,145...44,606,070
Ensembl chr 5:44,065,106...44,500,999 		JBrowse link
G PDYN prodynorphin susceptibility
no_association		 ISO 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:1589146 PMID:17559549 PMID:18923396 PMID:29925858 PMID:36099111 More... RGD:401850550 RGD:401850559 RGD:401850566 RGD:401850581 RGD:401851059 NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364 		JBrowse link
G PENK proenkephalin ISO mRNA:increased expression:frontal lobe: RGD PMID:22703995 RGD:10003152 NCBI chr29:7,757,543...7,763,137
Ensembl chr29:7,757,857...7,762,398 		JBrowse link
G POMC proopiomelanocortin ISO protein:decreased expression:brain (rat) RGD PMID:18162070 RGD:401976284 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G RPL18A ribosomal protein L18a ISO mRNA:decreased expression:parietal cortex RGD PMID:11244494 RGD:11038708 NCBI chr20:45,036,543...45,040,009
Ensembl chr20:45,036,510...45,039,935 		JBrowse link
G SHBG sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 susceptibility ISO protein:decreased activity: :
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15520362 PMID:17000009 PMID:20838391 RGD:6480660 NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736 		JBrowse link
G SNCA synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18055133 NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383 		JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with diabetes; protein:decreased activity;testis, epididymis (rat) RGD PMID:25541261 RGD:405255664 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:30277635 RGD:401938665 NCBI chr34:14,853,000...14,855,153 JBrowse link
G SPI1 Spi-1 proto-oncogene treatment ISO protein:decreased expression:alveolar macrophage RGD PMID:16272341 PMID:21447000 RGD:9586723 RGD:9586725 NCBI chr18:42,253,849...42,269,497
Ensembl chr18:42,253,811...42,269,727 		JBrowse link
G SPN sialophorin ISO associated with Prenatal Exposure Delayed Effects and anxiety disorder:DNA:Hypermthylation:promoter RGD PMID:30016666 RGD:401959614 NCBI chr 6:17,770,303...17,774,946 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 chr34:19,497,577...19,589,125
Ensembl chr34:19,497,922...19,586,427 		JBrowse link
G SYP synaptophysin sexual_dimorphism ISO associated with chronic stress in female rats RGD PMID:27894930 RGD:401959751 NCBI chr  X:42,288,071...42,301,802
Ensembl chr  X:42,288,148...42,299,487 		JBrowse link
G TACR1 tachykinin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204064 NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971 		JBrowse link
G TACR3 tachykinin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18422838 NCBI chr32:24,812,344...24,888,452
Ensembl chr32:24,812,119...24,907,580 		JBrowse link
G TAS2R38 taste 2 receptor member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17250611 NCBI chr16:7,224,077...7,225,027
Ensembl chr16:7,224,023...7,225,027 		JBrowse link
G TBX19 T-box transcription factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 7:30,198,912...30,248,410
Ensembl chr 7:30,185,850...30,365,512 		JBrowse link
G TIMELESS timeless circadian regulator susceptibility ISO DNA:SNP:: (rs2291738) (human) RGD PMID:20554694 RGD:401976551 NCBI chr10:671,829...701,152
Ensembl chr10:671,269...687,016 		JBrowse link
G TPH1 tryptophan hydroxylase 1 ISO RGD PMID:15654285 RGD:1580464 NCBI chr21:40,545,379...40,571,620
Ensembl chr21:40,547,682...40,566,572 		JBrowse link
G VIP vasoactive intestinal peptide susceptibility ISO DNA:SNPs, haplotype:: (rs3823082,rs688136) (human) RGD PMID:20554694 RGD:401976551 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700 		JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO mRNA, protein:decreased expression:amygdala RGD PMID:29991681 RGD:401938626 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Chemically-Induced Disorders 1268
      substance-related disorder 614
        substance abuse 189
          alcohol use disorder 105
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      nervous system disease 13239
        central nervous system disease 11877
          brain disease 11159
            disease of mental health 8084
              substance-related disorder 614
                Alcohol-Related Disorders 321
                  alcohol use disorder 105
paths to the root