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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:bipolar disorder
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Accession:DOID:3312 term browser browse the term
Definition:A mood disorder that involves alternating periods of mania and depression. (DO)
Synonyms:exact_synonym: BPAD;   Mania;   bipolar affective disorder;   bipolar affective psychoses;   bipolar affective psychosis;   bipolar and related disorders;   bipolar depression;   bipolar disorder manic phase;   bipolar disorders;   depressive-manic psych.;   manias;   manic bipolar I disorder;   manic bipolar affective disorder;   manic depression;   manic depressive disorder;   manic depressive psychosis;   manic disorder;   manic disorders;   manic state;   manic states;   manic-depressive psychoses;   mixed bipolar disorder
 related_synonym: BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO
 primary_id: MESH:D000068105;   MESH:D001714
 xref: EFO:0000289;   GARD:10249;   ICD10CM:F31;   ICD9CM:296.40;   ICD9CM:296.60;   ICD9CM:296.80;   MONDO:0004985;   NCI:C34423;   NCI:C34424;   NCI:C34805
For additional species annotation, visit the Alliance of Genome Resources.


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bipolar disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEA GAD PMID:15118671 RGD:1331525 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Adcy2 adenylate cyclase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 1:36,204,054...36,650,645
Ensembl chr 1:36,204,054...36,650,645 		JBrowse link
G Add3 adducin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22137759 RGD:5686381 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Agt angiotensinogen ISO GAD PMID:15118671 RGD:1331525 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Akap11 A-kinase anchoring protein 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35410376 NCBI chr15:60,320,839...60,365,480
Ensembl chr15:60,320,839...60,365,335 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO DNA:SNP, haplotype: :multiple (human) RGD PMID:20214684 RGD:5509071 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		JBrowse link
G Ank3 ankyrin 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNS:SNPs:multiple:(human) 		CTD
RGD		 PMID:18711365 PMID:21926974 PMID:31043756 PMID:33729739 RGD:153344594 NCBI chr20:18,601,307...19,224,790
Ensembl chr20:18,601,826...19,084,879 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO
ISS 		MouseDO
RGD		 PMID:9646882 RGD:1358437 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO DNA:SNP: :rs28536160 (human) RGD PMID:24012103 RGD:14700651 NCBI chr13:45,598,116...45,611,680
Ensembl chr13:45,598,763...45,611,277 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14708030 PMID:19018715 PMID:15118671 RGD:1331525 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 4:143,174,450...143,180,150
Ensembl chr 4:143,174,048...143,180,783 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 sexual_dimorphism ISO associated with Alcohol-related disorders;DNA:SNP::(rs11600996) (Human) RGD PMID:30121446 RGD:405866353 NCBI chr 1:176,766,222...176,864,741
Ensembl chr 1:176,829,305...176,864,739 		JBrowse link
G Brd1 bromodomain containing 1 susceptibility ISO DNA,SNP,haplotype:3'UTR: RGD PMID:16924267 RGD:9586096 NCBI chr 7:121,653,859...121,701,700
Ensembl chr 7:121,653,859...121,701,700 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711365 PMID:21926972 PMID:21926974 PMID:31043756 NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:28194001 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,233,690...5,674,692 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISS MouseDO NCBI chr18:56,648,779...56,711,505
Ensembl chr18:56,649,025...56,711,504 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:15034225 RGD:1358456 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Cd47 Cd47 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr11:64,374,816...64,438,763
Ensembl chr11:64,377,926...64,438,272 		JBrowse link
G Cdc42 cell division cycle 42 ISO RGD PMID:18391128 RGD:5688274 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627 		JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO DNA:SNP: :rs324650 (human)
protein:decreased expression:cerebral cortex 		RGD PMID:20351719 PMID:19103464 RGD:5509579, RGD:5509584 NCBI chr 4:65,981,136...66,116,128
Ensembl chr 4:65,981,006...66,126,464 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit susceptibility ISO DNA:SNPs: : rs4952,rs4953 (human) RGD PMID:21191315 RGD:405849396 NCBI chr16:71,411,847...71,454,225
Ensembl chr16:71,417,039...71,454,225 		JBrowse link
G Clock clock circadian regulator ISS MouseDO NCBI chr14:32,262,747...32,346,872
Ensembl chr14:32,262,750...32,346,872 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
DNA:promoter:Hypomethylation 		CTD
RGD		 PMID:11772685 PMID:16984965 RGD:401940146 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533 		JBrowse link
G Cplx1 complexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14708030 NCBI chr14:1,329,073...1,360,781
Ensembl chr14:1,329,032...1,360,769 		JBrowse link
G Cplx2 complexin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14708030 NCBI chr17:10,224,673...10,297,974
Ensembl chr17:10,228,449...10,297,467 		JBrowse link
G Cs citrate synthase treatment IEP protein decreased expression:prefrontal cortex
protein decreased expression:brain 		RGD PMID:20372980 PMID:24359811 PMID:17367908 RGD:329337348, RGD:329337349, RGD:329337351 NCBI chr 7:1,348,389...1,374,624
Ensembl chr 7:1,342,942...1,375,938 		JBrowse link
G Ddc dopa decarboxylase ISO DNA:deletions:5' utr, intron:g.-601delG, g.722_725delGAGA (human) RGD PMID:12555230 RGD:1358586 NCBI chr14:90,592,304...90,682,830
Ensembl chr14:90,592,304...90,682,806 		JBrowse link
G Disc1 DISC1 scaffold protein susceptibility ISO DNA;SNPs: :rs2738864,rs16841582 (human)
DNA:SNPs: :multiple
DNA:SNPs: :rs1538979, rs821577, rs821633 (human) 		RGD PMID:21222298 PMID:15386212 PMID:18317464 RGD:5509829, RGD:5509833, RGD:5509836 NCBI chr19:69,911,548...70,120,970
Ensembl chr19:69,911,976...70,120,970 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27752079 NCBI chr 8:59,904,218...59,977,595
Ensembl chr 8:59,904,218...59,978,447 		JBrowse link
G Drd1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19153942 NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,545,111...10,567,166 		JBrowse link
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14708030 NCBI chr14:76,700,244...76,703,344
Ensembl chr14:76,700,241...76,703,466 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 IEP RGD PMID:34189720 RGD:405650687 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:76,973,227...78,045,772 		JBrowse link
G Fads2 fatty acid desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 1:216,132,277...216,172,190
Ensembl chr 1:216,133,676...216,172,066 		JBrowse link
G Fstl5 follistatin-like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 2:160,857,989...161,526,589
Ensembl chr 2:163,156,576...163,825,140 		JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO DNA:repeat:intron:IVS8CA (human) RGD PMID:11840313 RGD:1358391 NCBI chr  X:155,301,979...155,543,870
Ensembl chr  X:155,303,928...155,543,863 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO RGD PMID:9514592 RGD:1358630 NCBI chr 1:117,404,446...117,517,424
Ensembl chr 1:117,404,494...117,516,635 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO protein:decreased expression:prefrontal cortex layers 2-5 (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15560956 PMID:18534564 RGD:6480428 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Gad2 glutamate decarboxylase 2 ISO
IEP 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15560956 PMID:34189720 RGD:405650687 NCBI chr17:89,671,718...89,734,246
Ensembl chr17:89,671,716...89,941,089 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO DNA:polymorphism RGD PMID:15909293 RGD:1601281 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18332879 NCBI chr20:53,717,564...54,415,283
Ensembl chr20:53,716,090...54,415,202 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO DNA:repeat:promoter:(GT)18-33 (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:31043756 PMID:12809987 RGD:1358644 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO RGD PMID:16549338 RGD:1642201 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Grk3 G protein-coupled receptor kinase 3 ISO mRNA, protein:decreased expression:frontal cortex (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:12808434 PMID:19400979 RGD:5685029 NCBI chr12:49,285,228...49,395,803
Ensembl chr12:49,285,263...49,395,802 		JBrowse link
G Grn granulin precursor ISO protein:decreased expression:plasma RGD PMID:24581833 RGD:10401641 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,886,122...87,893,936 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357757 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20357757 PMID:17357145 PMID:16397405 RGD:1641929, RGD:1641931 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:76,009,507...76,153,249 		JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr10:87,653,139...87,688,078
Ensembl chr10:87,652,656...87,694,244 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEA
ISO 		CTD Direct Evidence: marker/mechanism CTD PMID:14708030 PMID:15118671 RGD:1331525 NCBI chr15:56,360,647...56,428,703
Ensembl chr15:56,359,596...56,431,619 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO DNA:missense mutation:cds:p.C23S (human) RGD PMID:8823764 RGD:1358737 NCBI chr  X:115,453,190...115,682,325
Ensembl chr  X:115,452,842...115,682,324 		JBrowse link
G Impa2 inositol monophosphatase 2 susceptibility ISO DNA:SNPs:promoter:-461C>T, -207T>C(human) RGD PMID:9322233 PMID:14699425 PMID:11673796 RGD:6480265, RGD:6480267, RGD:6480269 NCBI chr18:63,104,113...63,135,232
Ensembl chr18:63,104,083...63,137,543 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:5506046 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Itih1 inter-alpha trypsin inhibitor, heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr16:6,128,696...6,142,813
Ensembl chr16:6,128,698...6,142,853 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:multiple (human) RGD PMID:24444492 RGD:9588521 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G L1cam L1 cell adhesion molecule ISO associated with Depressive Disorder; mRNA:increased expression:blood (human) RGD PMID:18430502 RGD:6483084 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:156,748,597...156,775,077 		JBrowse link
G Lman2l lectin, mannose-binding 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 9:38,661,709...38,685,244
Ensembl chr 9:46,157,596...46,181,207 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:haplotype: : RGD PMID:24856568 RGD:12910826 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Mrps33 mitochondrial ribosomal protein S33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 4:69,563,501...69,572,317
Ensembl chr 4:69,563,503...69,572,177 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutation:cds:m.3644T>C (human) RGD PMID:15533721 RGD:5490261 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17074966 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO DNA:snps:introns:IVS6+32T>C, IVS7+11G>C, IVS12+21C>A (human) RGD PMID:15050861 RGD:1358750 NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:58,762,116...59,061,971 		JBrowse link
G Ncan neurocan ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr16:19,335,907...19,362,371
Ensembl chr16:19,335,907...19,362,371 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO protein:decreased expression:prefrontal cortex (human) RGD PMID:20368511 RGD:6484696 NCBI chr 7:10,103,226...10,110,862
Ensembl chr 7:10,103,227...10,110,691 		JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19135101 NCBI chr 9:113,137,305...113,157,571
Ensembl chr 9:113,137,306...113,157,520 		JBrowse link
G Ngf nerve growth factor sexual_dimorphism ISO DNA:SNPs,haplotypes: :multiple RGD PMID:21294249 RGD:401965386 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14708030 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843 		JBrowse link
G Nrg1 neuregulin 1 ISO
IEP 		DNA:SNP:enhancer: (rs35753505) RGD PMID:18585932 PMID:34189720 RGD:39131291, RGD:405650687 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849 		JBrowse link
G Ntng1 netrin G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17507910 NCBI chr 2:200,151,979...200,515,031
Ensembl chr 2:200,151,979...200,515,031 		JBrowse link
G Ntng2 netrin G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17507910 NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14708030 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO protein:decreased expression:cerebellum
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:19018715 PMID:21612826 RGD:5684549 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:211,866,874...211,998,828 		JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
G Pde4b phosphodiesterase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18394866 NCBI chr 5:122,028,956...122,598,267
Ensembl chr 5:122,135,174...122,598,267 		JBrowse link
G Per3 period circadian regulator 3 sexual_dimorphism ISO associated with Alcohol-Related Disorders; DNA:SNP::(rs228642) (Human) RGD PMID:30121446 RGD:405866353 NCBI chr 5:166,740,914...166,778,243
Ensembl chr 5:166,743,050...166,777,999 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 2:186,233,435...186,242,114
Ensembl chr 2:186,233,452...186,241,354 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISS MouseDO NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2843795 PMID:9664777 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Pou3f2 POU class 3 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 5:40,874,631...40,880,539
Ensembl chr 5:40,874,601...40,881,010 		JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B ISO DNA, mRNA:SNPs, haplotype, splice variant:multiple RGD PMID:23295814 RGD:13515076 NCBI chr10:83,843,948...83,853,063
Ensembl chr10:83,844,036...83,853,063 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA, protein:decreased expression:prefrontal cortex RGD PMID:20038946 RGD:5688160 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:39,981,415...40,002,990 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:prefrontal cortex RGD PMID:20038946 RGD:5688160 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Pvalb parvalbumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14708030 NCBI chr 7:111,653,820...111,668,469
Ensembl chr 7:111,653,111...111,668,446 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO mRNA, protein:increased expression:dorsolateral prefrontal cortex (human) RGD PMID:16687443 RGD:5490162 NCBI chr 5:155,157,511...155,222,622
Ensembl chr 5:155,157,558...155,222,622 		JBrowse link
G Reln reelin ISO protein:decreased expression:hippocampus (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:11126396 PMID:14708030 PMID:15560956 PMID:11126396 RGD:2324681 NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:13,628,399...14,055,162 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 9:32,193,352...32,692,998
Ensembl chr 9:32,193,352...32,692,772 		JBrowse link
G Rps6ka2 ribosomal protein S6 kinase A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 1:55,178,988...55,454,271
Ensembl chr 1:55,179,319...55,454,338 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:16687443 RGD:5490162 NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,513,908...4,520,383 		JBrowse link
G S100b S100 calcium binding protein B IEP
ISO 		protein:increased expression:cerebrospinal fluid
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15581912 PMID:16476148 PMID:15581912 RGD:5508853 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:128,619,382...128,660,703 		JBrowse link
G Shank2 SH3 and multiple ankyrin repeat domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 1:208,575,144...209,020,300
Ensembl chr 1:208,598,772...209,018,736 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO DNA:SNPs:5' utr, cds:g.-584A>G (rs988713), p.T136I (rs1390938) (human) RGD PMID:16936705 RGD:5131197 NCBI chr16:25,408,485...25,453,786
Ensembl chr16:25,420,243...25,453,786 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16420717 NCBI chr11:44,799,787...44,802,233
Ensembl chr11:44,790,297...44,818,157 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO CTD Direct Evidence: marker/mechanism
DNA:repeats:promoter: 		CTD
RGD		 PMID:11772685 PMID:16395126 PMID:10484962 RGD:36947381 NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14708030 NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:144,494,595...144,576,448 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:19198857 RGD:6478716 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315 		JBrowse link
G Sp4 Sp4 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19401786 NCBI chr 6:145,330,416...145,395,750
Ensembl chr 6:145,330,416...145,395,146 		JBrowse link
G Srpk2 SRSF protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 4:12,356,983...12,548,345
Ensembl chr 4:12,357,053...12,548,342 		JBrowse link
G Srsf3 serine and arginine rich splicing factor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:18281098 RGD:11039413 NCBI chr20:7,093,529...7,103,517
Ensembl chr20:7,093,565...7,103,516 		JBrowse link
G Ssbp2 single-stranded DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 2:24,385,494...24,673,768
Ensembl chr 2:24,385,687...24,673,768 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO DNA:SNP, missense mutations, haplotype: :573G>A, p.L48M, p.P335L (human) RGD PMID:12192619 RGD:1358589 NCBI chr10:15,010,209...15,017,469
Ensembl chr10:15,011,391...15,017,469 		JBrowse link
G Stard9 StAR-related lipid transfer domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 3:128,034,866...128,150,493
Ensembl chr 3:128,034,908...128,127,402 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 3:173,165,238...173,247,135
Ensembl chr 3:173,165,083...173,247,134 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 susceptibility ISO DNA:SNPs:promoter,intron: RGD PMID:28178086 RGD:13209005 NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:43,895,994...44,388,721 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845098 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:36,645,571...36,653,546 		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 4:116,478,617...116,647,492 		JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21926972 NCBI chr 1:157,699,611...160,674,549
Ensembl chr 1:159,974,017...160,674,549 		JBrowse link
G Thsd7a thrombospondin type 1 domain containing 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 4:41,427,276...41,865,524
Ensembl chr 4:41,426,275...41,865,723 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:increased expression:plasma RGD PMID:20861651 RGD:7205488 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075 		JBrowse link
G Tph2 tryptophan hydroxylase 2 ISO mRNA:increased expression:frontal association cortex
ClinVar Annotator: match by term: Bipolar affective disorder, susceptibility to 		ClinVar
RGD		 PMID:17905754 PMID:18347598 PMID:19319927 PMID:25741868 PMID:16240163 RGD:5686358 NCBI chr 7:52,571,909...52,676,305
Ensembl chr 7:52,571,911...52,675,639 		JBrowse link
G Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 8:120,153,381...120,233,879
Ensembl chr 8:120,154,362...120,234,087 		JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23602965 NCBI chr 2:121,409,436...121,487,095
Ensembl chr 2:121,409,436...121,475,823 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23602965 NCBI chr20:10,703,190...10,752,795
Ensembl chr20:10,704,482...10,752,802 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6455462 NCBI chr 2:192,913,171...192,918,054
Ensembl chr 2:192,913,171...192,942,984 		JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:19839997 RGD:7207027 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757 		JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr13:22,621,275...22,708,232
Ensembl chr13:22,634,171...22,708,464 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31043756 NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:144,361,654...144,411,684 		JBrowse link
Major Affective Disorder 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xbp1 X-box binding protein 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Major affective disorder 7 		OMIM
CTD
ClinVar		 NCBI chr14:84,604,623...84,609,707
Ensembl chr14:84,604,107...84,609,706 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              cognitive disorder 2320
                mood disorder 305
                  bipolar disorder 119
                    Major Affective Disorder 3 0
                    Major Affective Disorder 4 0
                    Major Affective Disorder 5 0
                    Major Affective Disorder 6 0
                    Major Affective Disorder 7 1
                    Major Affective Disorder 8 0
                    Major Affective Disorder 9 0
                    Mental Health Wellness 1 0
                    Mental Health Wellness 2 0
                    bipolar I disorder 0
                    bipolar ll disorder 0
                    cyclothymic disorder 0
paths to the root