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
Accession: DOID:1574
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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Acads
acyl-CoA dehydrogenase short chain
susceptibility
ISO
DNA:SNP:: (rs1799958) (human)
RGD
PMID:20554694
RGD:401976551
NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
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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
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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
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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
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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
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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 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378
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Bdnf
brain-derived neurotrophic factor
IEP ISO
protein:decreased expression:plasma protein:decreased expression:plasma (human) mRNA,protein:decreased expression:hippocampus, plasma (rat) mRNA:decreased expression:hippocampus protein:altered expression:brain protein:decreased expression:cerebellum, hippocampus
RGD
PMID:32135570 PMID:30277635 PMID:30277635 PMID:32497709 PMID:15307153 PMID:19100286 More...
RGD:35673317 , RGD:401938665 , RGD:401938665 , RGD:401950485 , RGD:401965482 , RGD:401976492
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Calb1
calbindin 1
IEP
mRNA:decreased expression:hippocampus (rat)
RGD
PMID:30277635
RGD:401938665
NCBI chr 5:29,375,624...29,402,532
Ensembl chr 5:29,375,642...29,402,431
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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
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Camk4
calcium/calmodulin-dependent protein kinase IV
IEP
protein:decreased expression:brain, cingulate gyrus
RGD
PMID:11181917
RGD:401959326
NCBI chr18:24,582,988...24,811,918
Ensembl chr18:24,585,269...24,802,487
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Cast
calpastatin
IEP
protein:increased expression:gastrocnemius (rat)
RGD
PMID:28800153
RGD:405100967
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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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
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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
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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
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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
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Chrna6
cholinergic receptor nicotinic alpha 6 subunit
severity
ISO
DNA:haplotypes: :
RGD
PMID:19698703
RGD:405849410
NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
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Clock
clock circadian regulator
susceptibility
ISO
DNA:SNP:: (rs2412648) (human)
RGD
PMID:20554694
RGD:401976551
NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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Cnr1
cannabinoid receptor 1
sexual_dimorphism
IEP
associated with chronic stress in female rats
RGD
PMID:27894930
RGD:401959751
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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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 chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Creb1
cAMP responsive element binding protein 1
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 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Crebbp
CREB binding protein
IEP
mRNA, protein:decreased expression:amygdala
RGD
PMID:29991681
RGD:401938626
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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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
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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
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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
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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
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Dcx
doublecortin
IEP
mRNA:decreased expression:hippocampus (rat)
RGD
PMID:30277635
RGD:401938665
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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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 chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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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
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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 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Ep300
E1A binding protein p300
IEP
mRNA, protein:decreased expression:amygdala
RGD
PMID:29991681
RGD:401938626
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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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
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Fgf2
fibroblast growth factor 2
IMP
RGD
PMID:28821667 PMID:31375540
RGD:405855870 , RGD:405855874
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fmr1
fragile X messenger ribonucleoprotein 1
IEP
mRNA:increased expression:cerebellum
RGD
PMID:34453331
RGD:401938639
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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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 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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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 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
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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
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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
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Gabbr2
gamma-aminobutyric acid type B receptor subunit 2
susceptibility
ISO
DNA:SNP:intron: (rs2900512) (human)
RGD
PMID:28118741
RGD:401940105
NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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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
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Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
susceptibility
ISO
DNA:CA repeats: :(human)
RGD
PMID:9858031
RGD:405866342
NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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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
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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
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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 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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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
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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
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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
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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 chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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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
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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
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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
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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
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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 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549
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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
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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
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Htr3a
5-hydroxytryptamine receptor 3A
ISO
DNA:hypermethylation, hypomethylation:promoter: (mouse)
RGD
PMID:22834954
RGD:404976877
NCBI chr 8:49,242,018...49,254,475
Ensembl chr 8:49,242,020...49,254,389
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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
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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
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Igf2
insulin-like growth factor 2
ISO
protein:decreased expression:plasma (human)
RGD
PMID:30277635
RGD:401938665
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il10
interleukin 10
IEP
mRNA:increased expression:liver
RGD
PMID:22269225
RGD:401959317
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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
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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
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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
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Mapk1
mitogen activated protein kinase 1
IEP
protein:increased expression:liver
RGD
PMID:31262967
RGD:401959334
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk14
mitogen activated protein kinase 14
ISO
protein:increased expression, increased phosphorylation:liver
RGD
PMID:31262967
RGD:401959334
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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Mapk3
mitogen activated protein kinase 3
IEP
protein:increased expression:liver
RGD
PMID:31262967
RGD:401959334
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mapk8
mitogen-activated protein kinase 8
IDA
RGD
PMID:31262967
RGD:401959334
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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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
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Mir191
microRNA 191
onset
IEP
RGD
PMID:32135570
RGD:35673317
NCBI chr 8:109,264,098...109,264,188
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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
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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
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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
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Mki67
marker of proliferation Ki-67
IEP
mRNA:decreased expression:hippocampus (rat)
RGD
PMID:30277635
RGD:401938665
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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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
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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
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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 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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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 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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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
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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
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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 chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Nrg1
neuregulin 1
sexual_dimorphism
ISO
in female, associated with stressful life event;DNA:SNP: :rs6994992(human)
RGD
PMID:27353026
RGD:405100235
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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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 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO IEP
associated with Prenatal Exposure Delayed Effects and anxiety disorder:protein:decreased acetylation:brain
RGD
PMID:30016666 PMID:8840027
RGD:401959614 , RGD:401965407
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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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 5:144,306,188...144,340,960
Ensembl chr 5:144,306,188...144,340,960
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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 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
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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
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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
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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
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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 PMID:37177778 PMID:1589146 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
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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
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Pomc
proopiomelanocortin
IEP
protein:decreased expression:brain (rat) mRNA:increased expression: hypothalamus, pituitary gland, shell of nucleus accumbens
RGD
PMID:18162070 PMID:22724395
RGD:401976284 , RGD:405878072
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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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
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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
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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
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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
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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
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Sod1
superoxide dismutase 1
IEP
associated with diabetes; protein:decreased activity;testis, epididymis (rat)
RGD
PMID:25541261
RGD:405255664
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sox2
SRY-box transcription factor 2
IEP
mRNA:decreased expression:hippocampus (rat)
RGD
PMID:30277635
RGD:401938665
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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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
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Spn
sialophorin
ISO
associated with Prenatal Exposure Delayed Effects and anxiety disorder:DNA:Hypermthylation:promoter
RGD
PMID:30016666
RGD:401959614
NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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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
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Syp
synaptophysin
sexual_dimorphism
IEP
associated with chronic stress in female rats
RGD
PMID:27894930
RGD:401959751
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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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
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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
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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
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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
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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
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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
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Timeless
timeless circadian regulator
susceptibility
ISO
DNA:SNP:: (rs2291738) (human)
RGD
PMID:20554694
RGD:401976551
NCBI chr 7:654,804...678,769
Ensembl chr 7:654,822...678,738
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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
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Vip
vasoactive intestinal peptide
susceptibility
ISO
DNA:SNPs, haplotype:: (rs3823082,rs688136) (human)
RGD
PMID:20554694
RGD:401976551
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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