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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 chr12:47,154,259...47,163,580
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 NCBI chr 2:229,470,703...229,482,291
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 2:229,648,557...229,660,964
Ensembl chr 2:226,947,466...226,987,591 		JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment
onset		 IEP
ISO		 mRNA, protein:increased expression:orbitofrontal cortex, neurons
protein:increased expression:frontal cortex neuron		 RGD PMID:33716687 PMID:23867237 PMID:23867237 PMID:23867237 PMID:32664441 RGD:597538457, RGD:597538460, RGD:597538460, RGD:597538460, RGD:597805903 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		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 chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Ankk1 ankyrin repeat and kinase domain containing 1 severity ISO DNA:polymorphism: :rs1800497(human)
DNA:SNP,haplotype: :rs11604671, rs4938015 (human)		 RGD PMID:32889058 PMID:21936764 RGD:401940151, RGD:401959296 NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO DNA, mRNA, protein:hypermethylation, decreased expression:brain RGD PMID:31239533 RGD:407987270 NCBI chr 7:10,043,010...10,065,037
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
G App amyloid beta precursor protein IEP protein:increased expression:liver
protein:increased expression:cerebellum, hippocampus, striatum		 RGD PMID:36187787 PMID:21345314 RGD:597830170, RGD:597830177 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561 		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 chr 7:108,444,959...108,448,413
Ensembl chr 7:106,555,785...106,559,378 		JBrowse link
G Avp arginine vasopressin IEP mRNA:altered expression:central amygdaloid nucleus, medial amygdaloid nucleus, medial zone of hypothalamus
protein:decreased expression:suprachiasmatic nucleus		 RGD PMID:21575018 PMID:11709626 RGD:408364978, RGD:596933084 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Bace1 beta-secretase 1 IEP protein:increased expression:cerebellum, hippocampus, striatum RGD PMID:21345314 RGD:597830177 NCBI chr 8:55,038,842...55,061,138
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP
ISO		 protein:decreased expression:plasma
protein:decreased expression:plasma (human)
mRNA,protein:decreased expression:hippocampus, plasma (rat)
protein:altered expression:brain
protein:decreased expression:cerebellum, hippocampus
mRNA, protein:altered expression:brain		 RGD PMID:32135570 PMID:30277635 PMID:30277635 PMID:15307153 PMID:19100286 More... RGD:35673317, RGD:401938665, RGD:401938665, RGD:401965482, RGD:401976492, RGD:596933362, RGD:596936412 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Calb1 calbindin 1 IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:30277635 RGD:401938665 NCBI chr 5:34,172,612...34,199,555
Ensembl chr 5:29,375,642...29,402,431 		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 5:155,958,116...155,959,897
Ensembl chr 5:150,673,507...150,676,600 		JBrowse link
G Camk4 calcium/calmodulin-dependent protein kinase IV IEP protein:decreased expression:brain, cingulate gyrus RGD PMID:11181917 RGD:401959326 NCBI chr18:24,857,152...25,076,054
Ensembl chr18:24,585,269...24,802,487 		JBrowse link
G Cartpt CART prepropeptide susceptibility ISO DNA:SNPs: : rs11575893,rs16871471 RGD PMID:20362026 RGD:597805891 NCBI chr 2:32,989,215...32,991,794
Ensembl chr 2:31,255,098...31,290,713 		JBrowse link
G Cast calpastatin IEP protein:increased expression:gastrocnemius (rat) RGD PMID:28800153 RGD:405100967 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cat catalase treatment IEP associated with diabetes;protein:decreased activity:liver, kidney (rat)
associated with cognitive disorder; protein:altered activity:hippocampus (rat)
associated with cardiomyopathy
associated with diabetes; protein:decreased activity;testis, epididymis (rat)		 RGD PMID:22596042 PMID:21713042 PMID:27367870 PMID:7195942 PMID:25541261 RGD:405255659, RGD:405255660, RGD:405255662, RGD:405255663, RGD:405255664 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cckar cholecystokinin A receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9922984 NCBI chr14:61,505,270...61,513,618
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 chr17:706,863...717,828
Ensembl chr17:701,124...707,826 		JBrowse link
G Chrm5 cholinergic receptor, muscarinic 5 IEP mRNA:increased expression:brain (rat) RGD PMID:33942300 RGD:597957923 NCBI chr 3:119,739,229...119,791,630
Ensembl chr 3:99,284,846...99,337,252 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18414406 NCBI chr 8:64,297,755...64,311,251
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 8:64,265,879...64,294,233
Ensembl chr 8:55,369,794...55,398,146 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit severity ISO DNA:haplotypes: : RGD PMID:19698703 RGD:405849410 NCBI chr16:71,400,615...71,407,315
Ensembl chr16:64,697,741...64,704,441 		JBrowse link
G Clock clock circadian regulator susceptibility ISO DNA:SNP:: (rs2412648) (human) RGD PMID:20554694 RGD:401976551 NCBI chr14:32,262,747...32,346,872
Ensembl chr14:31,908,566...31,990,400 		JBrowse link
G Cnr1 cannabinoid receptor 1 sexual_dimorphism IEP associated with chronic stress in female rats RGD PMID:27894930 RGD:401959751 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 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism::
DNA:polymorphism: :rs4680(human)		 CTD
RGD		 PMID:10395222 PMID:10395222 PMID:32889058 RGD:401940114, RGD:401940151 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 sexual_dimorphism IEP
IDA		 mRNA, protein:decreased expression:amygdala
protein:altered expression, altered phosphorylation:liver, nucleus
protein:increased phosphorylation:liver		 RGD PMID:29991681 PMID:22269225 PMID:31262967 RGD:401938626, RGD:401959317, RGD:401959334 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Crebbp CREB binding protein IEP mRNA, protein:decreased expression:amygdala RGD PMID:29991681 RGD:401938626 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Crh corticotropin releasing hormone IEP mRNA:increased expression:central amygdaloid nucleus (rat) RGD PMID:20060104 RGD:5508173 NCBI chr 2:104,059,184...104,061,048
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 chr10:89,540,192...89,583,466
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 1:205,269,967...205,280,365
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 3:30,886,313...30,903,313
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dbi diazepam binding inhibitor ISO mRNA,protein:increased expression:cerebral cortex (mouse) RGD PMID:9526063 RGD:408346747 NCBI chr13:33,794,231...33,802,632
Ensembl chr13:31,206,988...31,268,693 		JBrowse link
G Dcx doublecortin IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:30277635 RGD:401938665 NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:107,430,767...107,507,476 		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 chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Drd2 dopamine receptor D2 IEA GAD PMID:15118671 RGD:1331525 NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875 		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 NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Ep300 E1A binding protein p300 IEP mRNA, protein:decreased expression:amygdala RGD PMID:29991681 RGD:401938626 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit IEP RGD PMID:23095216 RGD:10045658 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Fgf2 fibroblast growth factor 2 IMP RGD PMID:28821667 PMID:31375540 RGD:405855870, RGD:405855874 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 IEP mRNA:increased expression:cerebellum RGD PMID:34453331 RGD:401938639 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP
ISO
IDA		 protein:increased expression:brain
protein:increased expression:parvocellular oculomotor nucleus 		RGD PMID:14741756 PMID:11164784 PMID:29210146 RGD:405255650, RGD:405255652, RGD:405295495 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit treatment IEP
ISO		 protein:increased expression:brain (mouse)
protein:increased expression:dorsal striatum (mouse)		 RGD PMID:22792289 PMID:9835277 PMID:27380261 RGD:401851082, RGD:401901184, RGD:401901287 NCBI chr 1:88,082,324...88,089,506
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 3:114,003,262...114,007,072
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 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 susceptibility ISO DNA:SNP:intron: (rs2900512) (human) RGD PMID:28118741 RGD:401940105 NCBI chr 5:65,743,073...66,083,695
Ensembl chr 5:60,947,526...61,288,104 		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 chr14:37,451,218...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:CA repeats: :(human) RGD PMID:9858031 RGD:405866342 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 CTD Direct Evidence: marker/mechanism CTD PMID:22253714 NCBI chr10:26,876,926...26,965,523
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 chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment ISO
IDA
IEP		 protein:increased expression:serum
DNA:hypomethylation:nucleus accumbens
associated with Tobacco Use Disorder;mRNA:decreased expression:ventral tegmental area		 RGD PMID:25623403 PMID:31710958 PMID:22238721 PMID:28559549 RGD:401965480, RGD:405820205, RGD:405849387, RGD:405850249 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12747453 NCBI chr20:13,074,141...13,103,551
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 2:112,196,158...112,201,666
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 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO
IEP		 protein:increased phosphorylation:lumbar spinal cord (mouse)
protein:increased expression:nucleus accumbens (rat)
protein:increased expression:nucleus accumbens (mouse)
protein:increased expression, increased phosphorylation:cingulate cortex (rat)
protein:decreased expression:neocortex (rat)		 RGD PMID:28585190 PMID:21041654 PMID:21041654 PMID:34280506 PMID:12036520 RGD:405100727, RGD:405650686, RGD:405650686, RGD:405818275, RGD:405820203 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:neocortex (rat)
protein:increased expression:ventral CA1 field of hippocampus (rat)		 RGD PMID:12036520 PMID:30481568 RGD:405820203, RGD:596933081 NCBI chr 2:168,247,490...168,367,616
Ensembl chr 2:165,947,521...166,069,510 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:14573320 RGD:1642372 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment ISO
IEP		 RGD PMID:14573320 PMID:16911840 PMID:32664441 RGD:1642372, RGD:1642200, RGD:597805903 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 treatment IEP RGD PMID:32664441 RGD:597805903 NCBI chr 1:150,722,711...151,297,585
Ensembl chr 1:141,312,368...141,882,274 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:SNP:: rs1695(human) RGD PMID:31886888 RGD:597621684 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hdac2 histone deacetylase 2 IMP RGD PMID:23485013 RGD:9590265 NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hmgb1 high mobility group box 1 onset
treatment		 ISO
IEP		 protein:increased expression:orbitofrontal cortex
protein:increased expression:frontal cortex neuron		 RGD PMID:23867237 PMID:23867237 PMID:32664441 RGD:597538460, RGD:597538460, RGD:597805903 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A treatment IMP RGD PMID:9631953 RGD:401900760 NCBI chr 2:38,427,169...38,431,733
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B sexual_dimorphism
no_association
onset		 ISO associated with attention deficit hyperactivity disorder;DNA:SNP: :rs11568817(human)
DNA:SNPs: :multiples (human)
DNA:SNP: :rs13212041 (human)		 RGD PMID:28923721 PMID:11496363 PMID:30774345 RGD:405650695, RGD:405818272, RGD:405847403 NCBI chr 8:91,395,405...91,414,815
Ensembl chr 8:82,517,360...82,534,549 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment IEP
IMP		 mRNA, protein:decreased expression:cerebral cortex, liver
protein:increased expression:dorsal raphe, nucleus accumbens		 RGD PMID:20501057 PMID:9347075 PMID:9347073 PMID:9631953 RGD:401900301, RGD:401900740, RGD:401900742, RGD:401900760 NCBI chr15:56,360,647...56,428,703
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:115,453,190...115,682,325
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Htr3a 5-hydroxytryptamine receptor 3A ISO DNA:hypermethylation, hypomethylation:promoter: (mouse) RGD PMID:22834954 RGD:404976877 NCBI chr 8:58,138,514...58,150,960
Ensembl chr 8:49,242,020...49,254,389 		JBrowse link
G Htr3b 5-hydroxytryptamine receptor 3B susceptibility ISO DNA:SNP:cds:rs1176744(human) RGD PMID:20838391 RGD:6480660 NCBI chr 8:58,175,785...58,204,939
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 1:243,049,064...243,173,636
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma (human) RGD PMID:30277635 RGD:401938665 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Il10 interleukin 10 IEP mRNA:increased expression:liver RGD PMID:22269225 RGD:401959317 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:26208141 RGD:11342768 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO DNA:SNP:promoter:rs2836016 (human) RGD PMID:21307845 RGD:6483053 NCBI chr11:47,531,312...47,778,348
Ensembl chr11:34,061,708...34,308,758 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 IEP protein:decreased expression:ventral CA1 field of hippocampus (rat) RGD PMID:30481568 RGD:596933081 NCBI chr18:40,004,693...40,445,043
Ensembl chr18:37,817,957...38,258,347 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972 		JBrowse link
G Lrp1 LDL receptor related protein 1 IEP protein:decreased expression:liver RGD PMID:36187787 RGD:597830170 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Maoa monoamine oxidase A susceptibility ISO RGD PMID:15900229 RGD:1600720 NCBI chr  X:8,615,239...8,681,372
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 IEP protein:increased expression:liver RGD PMID:31262967 RGD:401959334 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO protein:increased expression, increased phosphorylation:liver RGD PMID:31262967 RGD:401959334 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 IEP protein:increased expression:liver RGD PMID:31262967 RGD:401959334 NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IDA RGD PMID:31262967 RGD:401959334 NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mb myoglobin ISO protein:decreased expression:serum RGD PMID:3766421 RGD:458925288 NCBI chr 7:110,640,511...110,647,742
Ensembl chr 7:108,759,904...108,767,383 		JBrowse link
G Mcm5 minichromosome maintenance complex component 5 IEP RGD PMID:23095216 RGD:10045658 NCBI chr19:13,488,813...13,510,131
Ensembl chr19:13,483,066...13,504,389 		JBrowse link
G Mir191 microRNA 191 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 8:118,142,627...118,142,717 JBrowse link
G Mir195 microRNA 195 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr10:55,450,495...55,450,581
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mir206 microRNA 206 onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 9:30,590,697...30,590,780
Ensembl chr 9:23,094,249...23,094,332 		JBrowse link
G Mir30a microRNA 30a onset IEP RGD PMID:32135570 RGD:35673317 NCBI chr 9:33,233,941...33,234,011
Ensembl chr 9:25,737,600...25,737,670 		JBrowse link
G Mki67 marker of proliferation Ki-67 IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:30277635 RGD:401938665 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:24966898 RGD:13207311 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:24966898 RGD:13207311 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 treatment
sexual_dimorphism		 IEP mRNA:decreased expression:hippocampus (rat)
associated with chronic stress in female rats		 RGD PMID:30277635 PMID:16207289 PMID:27894930 RGD:401938665, RGD:401959613, RGD:401959751 NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014 		JBrowse link
G Ncstn nicastrin IEP protein:increased expression:striatum RGD PMID:21345314 RGD:597830177 NCBI chr13:87,062,827...87,078,839
Ensembl chr13:84,530,440...84,546,454 		JBrowse link
G Ngf nerve growth factor ISO
IEP		 protein:increased expression:serum
protein:decreased expression:brain
protein:decreased expression:cerebral cortex, hippocampus		 RGD PMID:25623403 PMID:15307153 PMID:19100286 RGD:401965480, RGD:401965482, RGD:401976492 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		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 4:80,212,111...80,219,310
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 2:170,200,027...170,210,286
Ensembl chr 2:167,903,879...167,905,024 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 treatment IDA
IMP
IEP		 protein:decreased expression, decreased DNA binding:brain
mRNA, protein:decreased expression:placenta		 RGD PMID:11961084 PMID:33920737 PMID:31756338 PMID:21143252 RGD:408345232, RGD:408345239, RGD:408345241, RGD:408345244 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 treatment
sexual_dimorphism		 IMP RGD PMID:29437012 PMID:33007359 PMID:30171933 RGD:401965466, RGD:401966865, RGD:401976281 NCBI chr19:47,619,853...47,964,089
Ensembl chr19:30,715,648...31,059,885 		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 chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Ntf3 neurotrophin 3 ISO
IEP		 protein:decreased expression:plasma (human)
mRNA,protein:decreased expression:hippocampus, plasma (rat)
protein:increased expression:brain		 RGD PMID:30277635 PMID:30277635 PMID:15307153 RGD:401938665, RGD:401938665, RGD:401965482 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 treatment ISO
IEP
IDA		 associated with Prenatal Exposure Delayed Effects and anxiety disorder:protein:decreased acetylation:brain RGD PMID:30016666 PMID:8840027 PMID:32206827 PMID:33919862 RGD:401959614, RGD:401965407, RGD:596933095, RGD:596933362 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Oprd1 opioid receptor, delta 1 IEP
IMP
ISO		 associated with stress-related disorder; mRNA:decreased expression:dorsal striatum (rat)
DNA:SNPs, haplotype:intron 1:multiple (human)		 RGD PMID:28511993 PMID:7501658 PMID:24533225 RGD:401976432, RGD:401976439, RGD:402525443 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 severity
no_association
susceptibility		 ISO
IEP		 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:31004399 PMID:37177778 PMID:37177778 PMID:28511993 RGD:401831037, RGD:401850581, RGD:401850581, RGD:401976432 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 IMP RGD PMID:11814626 RGD:9835016 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 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 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide disease_progression ISO mRNA:increased expression:prefrontal cortex, brain (human) RGD PMID:28787642 RGD:597621697 NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:117,782,650...117,783,490 		JBrowse link
G Oxtr oxytocin receptor sexual_dimorphism ISO DNA:SNP:intron: (rs53576) (human)
DNA:hypomethylation		 RGD PMID:27716573 PMID:35146961 RGD:597538589, RGD:597538605 NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Pde4b phosphodiesterase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18438686 NCBI chr 5:122,028,956...122,598,267
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 3:137,354,161...137,366,503
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 5:21,981,381...21,987,074
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Per1 period circadian regulator 1 IEP mRNA:altered expression: arcuate nucleus of hypothalamus RGD PMID:15009656 RGD:407572515 NCBI chr10:54,299,002...54,313,804
Ensembl chr10:53,805,535...53,814,431 		JBrowse link
G Per2 period circadian regulator 2 IEP mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus RGD PMID:15009656 RGD:407572515 NCBI chr 9:99,454,828...99,497,069
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Per3 period circadian regulator 3 IEP mRNA:altered expression:suprachiasmatic nucleus RGD PMID:15009656 RGD:407572515 NCBI chr 5:166,740,914...166,778,243
Ensembl chr 5:161,459,533...161,495,607 		JBrowse link
G Pomc proopiomelanocortin sexual_dimorphism IEP
ISO		 protein:decreased expression:brain (rat)
mRNA:increased expression: hypothalamus, pituitary gland, shell of nucleus accumbens
DNA, mRNA:deletion, decreased expression:enhancer, hypothalamus
mRNA, protein:increased expression:arcuate nucleus, hypothalamus, septum
protein:increased expression:plasma
associated with Prenatal Exposure Delayed Effects;mRNA:altered expression:adenohypophysis
mRNA:altered expression: arcuate nucleus of hypothalamus		 RGD PMID:18162070 PMID:22724395 PMID:31339663 PMID:7925590 PMID:19912941 More... RGD:401976284, RGD:405878072, RGD:407550221, RGD:407571692, RGD:407572513, RGD:407572513, RGD:407572515 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 sexual_dimorphism ISO DNA:SNPs:intron 1, 3: (rs8062784, rs12921846) (human) RGD PMID:33329073 RGD:597830062 NCBI chr10:8,658,809...10,754,648
Ensembl chr10:8,152,198...9,686,659 		JBrowse link
G Rest RE1-silencing transcription factor ISO protein:increased expression:basal forebrain RGD PMID:37402853 RGD:597538603 NCBI chr14:31,213,415...31,233,451
Ensembl chr14:30,862,553...30,894,354 		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
Ensembl chr 1:18,542,566...18,545,546 		JBrowse link
G Sell selectin L ISO protein:decreased expression:Tcell RGD PMID:7573774 RGD:597015763 NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456 		JBrowse link
G Shbg sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8590623 NCBI chr10:54,831,716...54,849,162
Ensembl chr10:54,332,941...54,351,057 		JBrowse link
G Slc1a2 solute carrier family 1 member 2 treatment IEP RGD PMID:32664441 RGD:597805903 NCBI chr 3:109,460,109...109,590,445
Ensembl chr 3:89,005,129...89,126,498 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr 1:31,537,990...31,578,962
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 chr10:62,322,688...62,357,060
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 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sod1 superoxide dismutase 1 IEP associated with diabetes; protein:decreased activity;testis, epididymis (rat) RGD PMID:25541261 RGD:405255664 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sox2 SRY-box transcription factor 2 IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:30277635 RGD:401938665 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338 		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 3:97,529,509...97,548,204
Ensembl chr 3:77,073,012...77,092,393 		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 1:191,177,449...191,190,115
Ensembl chr 1:181,746,429...181,759,628 		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 chr11:91,031,481...91,158,111
Ensembl chr11:77,526,837...77,653,310 		JBrowse link
G Syp synaptophysin sexual_dimorphism IEP associated with chronic stress in female rats RGD PMID:27894930 RGD:401959751 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tacr1 tachykinin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204064 NCBI chr 4:116,478,617...116,647,492
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 2:225,940,497...226,037,756
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 chr13:79,983,935...80,016,219
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 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Timeless timeless circadian regulator susceptibility ISO DNA:SNP:: (rs2291738) (human) RGD PMID:20554694 RGD:401976551 NCBI chr 7:1,239,388...1,263,344
Ensembl chr 7:654,822...678,738 		JBrowse link
G Tlr2 toll-like receptor 2 IEP
ISO		 protein:decreased expression:alveolar macrophage
mRNA:increased expression:respiratory system fluid/secretion
protein:decreased expression:blood, monocyte
mRNA:increased expression:liver
mRNA:increased expression:orbitofrontal cortex		 RGD PMID:36281822 PMID:26208141 PMID:27256567 PMID:30756376 PMID:34415075 RGD:597538461, RGD:11342768, RGD:597538485, RGD:597538493, RGD:597538499 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA:increased expression:orbitofrontal cortex RGD PMID:34415075 RGD:597538499 NCBI chr16:53,554,916...53,572,321
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tlr4 toll-like receptor 4 onset ISO
IEP		 mRNA:decreased expression:respiratory system fluid/secretion
protein:decreased expression:blood, monocyte
protein:increased expression:liver
mRNA:increased expression:liver
mRNA:increased expression:orbitofrontal cortex
protein:increased expression:orbitofrontal cortex
protein:increased expression:frontal cortex neuron		 RGD PMID:26208141 PMID:27256567 PMID:21276439 PMID:30756376 PMID:34415075 More... RGD:11342768, RGD:597538485, RGD:150540306, RGD:597538493, RGD:597538499, RGD:597538460, RGD:597538460 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:orbitofrontal cortex RGD PMID:34415075 RGD:597538499 NCBI chr13:97,166,430...97,190,642
Ensembl chr13:94,634,801...94,657,738 		JBrowse link
G Tlr6 toll-like receptor 6 ISO mRNA:increased expression:orbitofrontal cortex RGD PMID:34415075 RGD:597538499 NCBI chr14:43,715,809...43,727,019
Ensembl chr14:43,362,164...43,375,685 		JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA:increased expression:orbitofrontal cortex RGD PMID:34415075 RGD:597538499 NCBI chr  X:30,644,324...30,670,796
Ensembl chr  X:27,027,425...27,054,754 		JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA:increased expression:orbitofrontal cortex RGD PMID:34415075 RGD:597538499 NCBI chr  X:30,708,714...30,733,104
Ensembl chr  X:27,091,778...27,116,549 		JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression:orbitofrontal cortex RGD PMID:34415075 RGD:597538499 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:32664441 RGD:597805903 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO RGD PMID:15654285 RGD:1580464 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 ISO
IEP		 mRNA, protein:increase3d expression:dorsal raphe nucleus, median raphe nucleus
associated with temporal lobe epilepsy;DNA:SNP: :rs17110747
protein:decreased expression, increased activity:raphe nuclei
protein:decreased expression:hippocampus
protein:decreased expression:midbrain		 RGD PMID:24942188 PMID:24491795 PMID:32330588 PMID:26747301 PMID:27647531 RGD:597621679, RGD:597621680, RGD:596936412, RGD:597805906, RGD:597830173 NCBI chr 7:52,571,909...52,676,305
Ensembl chr 7:50,685,694...50,789,424 		JBrowse link
G Vip vasoactive intestinal peptide susceptibility ISO DNA:SNPs, haplotype:: (rs3823082,rs688136) (human) RGD PMID:20554694 RGD:401976551 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216 		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
        substance abuse 280
          alcohol use disorder 189
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
                Alcohol-Related Disorders 505
                  alcohol use disorder 189
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