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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:major depressive disorder
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Accession:DOID:1470 term browser browse the term
Definition:A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. (DO)
Synonyms:exact_synonym: Involutional Depression;   Involutional Melancholia;   Involutional Paraphrenia;   MDD;   involutional paraphrenias;   involutional psychoses;   involutional psychosis;   major depression;   major depressive disorders;   recurrent major depression
 narrow_synonym: SAD;   TRYPTOPHAN 5-MONOOXYGENASE DEFICIENCY;   UNIPOLAR DEPRESSION SEASONAL AFFECTIVE DISORDER;   major depressive episode;   single major depressive episode
 related_synonym: MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO
 primary_id: MESH:D003865
 alt_id: OMIM:608516
 xref: EFO:0003761;   EFO:0006860;   EFO:0007634;   ICD10CM:F32;   ICD10CM:F33.9;   ICD9CM:296.2;   ICD9CM:296.3;   MONDO:0002009;   NCI:C34796
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
major depressive disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy3 adenylate cyclase 3 ISS OMIM:608520 | OMIM:608691 MouseDO NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686 		JBrowse link
G Apoa1 apolipoprotein A1 susceptibility IEP protein: increased expression: cerebrospinal fluid RGD PMID:20580919 RGD:5128563 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa4 apolipoprotein A4 IEP protein:increased expression:blood serum (rat) RGD PMID:20580919 RGD:5128563 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Arrb1 arrestin, beta 1 severity ISO protein:decreased expression:blood, mononuclear cell RGD PMID:15514408 RGD:1578803 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:21803060 RGD:8655887 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Calm2 calmodulin 2 ISO mRNA:decreased expression:frontal association cortex RGD PMID:22885997 RGD:6892958 NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20471444 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO DNA:SNP:3' utr:1890A>T (human)
protein:decreased expression:cerebral cortex		 RGD PMID:12116189 PMID:19103464 RGD:1358507, RGD:5509584 NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO mRNA:decreased expression:habenula: RGD PMID:28420875 RGD:151347550 NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360 		JBrowse link
G Cntnap2 contactin associated protein 2 susceptibility ISO DNA:SNPs: : rs2710102,rs2710117(human) RGD PMID:23123147 RGD:13450917 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23529111 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 ISS OMIM:608520 | OMIM:608691 MouseDO NCBI chr16:18,988,197...19,046,914
Ensembl chr16:18,988,250...19,043,381 		JBrowse link
G Ctnnd2 catenin delta 2 susceptibility ISO DNA:polymorphism:multiple (human) RGD PMID:24256404 RGD:40902831 NCBI chr 2:81,168,525...82,016,495
Ensembl chr 2:81,167,117...82,015,764 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 treatment ISO associated with alcoholic psychosis;DNA:polymorphism: :1846G.A (rs3892097)(human) RGD PMID:34117140 RGD:401901273 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Disc1 DISC1 scaffold protein susceptibility ISO DNA:SNP:Cds:p.S704C(human)
protein:altered expression:orbitofrontal cortex 		RGD PMID:16959794 PMID:15657124 RGD:5509832, RGD:5509834 NCBI chr19:53,014,201...53,223,617
Ensembl chr19:53,014,616...53,219,778 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:increased expression:dentated gyrus, hippocampus A1 RGD PMID:20953200 RGD:7771583 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29175309 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eif4b eukaryotic translation initiation factor 4B ISO protein:decreased expression:prefrontal cortex RGD PMID:21635931 RGD:11049139 NCBI chr 7:133,206,637...133,228,436 JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 susceptibility ISO associated with Trauma and Stressor Related Disorders; DNA:SNPs,haplotypes:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to		 OMIM
CTD
ClinVar
RGD		 PMID:15565110 PMID:20090668 RGD:401976504 NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674 		JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:SNP: :rs10447760 (human)
DNA:SNPs: :multiple		 RGD PMID:22404659 PMID:22404659 RGD:11535994, RGD:11535994 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G Frem3 FRAS1 related extracellular matrix 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26441752 NCBI chr19:27,308,469...27,366,771
Ensembl chr19:27,308,469...27,366,771 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15560956 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gad2 glutamate decarboxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15560956 NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:27940914 NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959 		JBrowse link
G Galr1 galanin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27940914 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Galr2 galanin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27940914 NCBI chr10:101,513,689...101,517,176
Ensembl chr10:101,514,471...101,517,176 		JBrowse link
G Galr3 galanin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27940914 NCBI chr 7:110,603,525...110,608,429
Ensembl chr 7:110,605,226...110,607,685 		JBrowse link
G Gata1 GATA binding protein 1 ISO mRNA:increased expression:dorsolateral prefrontal cortex RGD PMID:22885997 RGD:6892958 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP: :rs1043618 (human) RGD PMID:17428599 RGD:5147598 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:SNPs: :rs2075799, rs2227956 (human) RGD PMID:17428599 RGD:5147598 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C treatment IDA mRNA:increased editing RGD PMID:16005997 RGD:1624993 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Ifi44l interferon-induced protein 44-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29175309 NCBI chr 2:240,668,742...240,706,425
Ensembl chr 2:240,668,713...240,706,359 		JBrowse link
G Il10 interleukin 10 ISO associated with Hepatitis C, Chronic;DNA:SNPs, haplotype:promoter:-592C>A, -���819C>T, -1082G>A (human) RGD PMID:30734130 RGD:14975122 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12635532 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il3 interleukin 3 ISO mRNA: increased expression: BA10: frontal cortex RGD PMID:20479761 RGD:5686897 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066 		JBrowse link
G Il5 interleukin 5 ISO protein: increased expression: serum RGD PMID:22230487 RGD:5687135 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Il6 interleukin 6 ISO associated with Hepatitis C, Chronic;DNA:SNP, haplotype:promoter:-174G>C (human) RGD PMID:30734130 RGD:14975122 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO CTD Direct Evidence: marker/mechanism CTD PMID:29175309 NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435 		JBrowse link
G Mc1r melanocortin 1 receptor ISO DNA:SNP:cds: rs885479,R163Q RGD PMID:21052032 RGD:5687198 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:mutation:multiple RGD PMID:12216017 RGD:1358728 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20471444 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:25001963 RGD:13825137 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO DNA:SNP:intron:IVS2+646C>G (human) RGD PMID:18246526 RGD:7174717 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29175309 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Nrg1 neuregulin 1 ISO mRNA:increased expression:prefrontal cortex RGD PMID:29295823 RGD:41404730 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 severity ISO mRNA:decreased expression:depression
DNA:SNPs: :rs2289657, rs56142442 (human)
DNA:SNPs: : (human)		 RGD PMID:21223646 PMID:19844206 PMID:20124106 RGD:5684778, RGD:5684911, RGD:5684909 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO protein:decreased expression:brain: RGD PMID:20067857 RGD:9835359 NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028 		JBrowse link
G Pdyn prodynorphin ISO mRNA:decreased expression:periamygdaloid cortex
associated with heroin dependence or alcohol use disorder;DNA:repeat:promoter:rs35286251 (human)		 RGD PMID:24231353 PMID:35271823 RGD:401850554, RGD:401850556 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:occipital cortex (human) RGD PMID:12969265 RGD:127285604 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Reln reelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11126396 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO mRNA:decreased expression:habenula: RGD PMID:28420875 RGD:151347550 NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 treatment
susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:repeats:promotor:
DNA:repeats:promoter:
DNA:hypomethylation:promoter:
DNA:SNPs, haplotypes:multiple		 CTD
RGD		 PMID:16055263 PMID:12955294 PMID:15812265 PMID:24679990 PMID:19844206 More... RGD:39128240, RGD:38456009, RGD:36947871, RGD:5684911, RGD:36947384, RGD:36947382 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20471444 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Syn1 synapsin I ISO mRNA:decreased expression:dorsolateral prefrontal cortex RGD PMID:22885997 RGD:6892958 NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845098 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Tph2 tryptophan hydroxylase 2 susceptibility ISO ClinVar Annotator: match by term: Major depressive disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17905754 PMID:18347598 PMID:19319927 PMID:25741868 NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:50,685,694...50,789,424 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20471444 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
melancholic depression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disc1 DISC1 scaffold protein ISS OMIM:608516 MouseDO NCBI chr19:53,014,201...53,223,617
Ensembl chr19:53,014,616...53,219,778 		JBrowse link
G Hap1 huntingtin-associated protein 1 ISS OMIM:608516 MouseDO NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126 		JBrowse link
G Morc1 MORC family CW-type zinc finger 1 ISS OMIM:608516 MouseDO NCBI chr11:52,178,769...52,384,255
Ensembl chr11:52,178,769...52,384,255 		JBrowse link
G Tph2 tryptophan hydroxylase 2 ISS OMIM:608516 MouseDO NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:50,685,694...50,789,424 		JBrowse link
postpartum depression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISS MouseDO NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
G Il10 interleukin 10 IEP RGD PMID:17033197 RGD:1598630 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO RGD PMID:15544576 RGD:1580465 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              cognitive disorder 2300
                mood disorder 289
                  depressive disorder 200
                    major depressive disorder 63
                      Major Depressive Disorder 1 0
                      Major Depressive Disorder 2 0
                      melancholic depression + 7
paths to the root