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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:polycystic ovary syndrome
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Accession:DOID:11612 term browser browse the term
Definition:An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. (DO)
Synonyms:exact_synonym: Multicystic ovaries;   PCO;   PCO1;   PCOS;   PCOS1;   Polycystic Ovarian Syndrome;   Polycystic Ovarian disease;   Polycystic Ovary Syndrome 1;   Polycystic ovaries;   Sclerocystic Ovarian Degeneration;   Sclerocystic Ovaries;   Sclerocystic Ovary;   Sclerocystic Ovary Syndrome;   Stein Leventhal syndrome;   Stein-Leventhal synd.;   hyperandrogenemia;   polycystic ovary
 related_synonym: POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO
 primary_id: MESH:D011085
 alt_id: MIM:184700
 xref: EFO:0000660;   ICD10CM:E28.2;   ICD9CM:256.4;   NCI:C26862;   NCI:C92847
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
polycystic ovary syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:47,919,398...47,994,528
Ensembl chr 7:47,929,033...47,994,453 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802 		JBrowse link
G ADGRD2 adhesion G protein-coupled receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:265,258,847...265,275,288
Ensembl chr 1:265,259,617...265,275,248 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:16868149 RGD:8694433 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G ADM adrenomedullin ISO CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866 		JBrowse link
G ADRA1A adrenoceptor alpha 1A ISO mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr14:10,623,391...10,733,378
Ensembl chr14:10,626,293...10,733,068 		JBrowse link
G ADRA1B adrenoceptor alpha 1B ISO mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr16:63,550,123...64,010,838
Ensembl chr16:63,550,130...63,603,034 		JBrowse link
G ADRA1D adrenoceptor alpha 1D ISO mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr17:31,517,021...31,537,361
Ensembl chr17:31,517,021...31,538,362 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO mRNA,protein:decreased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO mRNA:increased expression:gastrointestinal system mesentery, adipose tissue RGD PMID:19158405 RGD:2313167 NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		JBrowse link
G AKR1C1 aldo-keto reductase family 1, member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16263811 PMID:21262361 PMID:22381227 NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248 		JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 ISO RGD PMID:8402388 RGD:11541125 NCBI chr10:65,650,223...65,679,878
Ensembl chr10:65,576,464...65,678,248 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO OMIM:184700 MouseDO NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919 		JBrowse link
G AMH anti-Mullerian hormone ISO protein:increased expression:serum RGD PMID:17224152 RGD:1601181 NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312 		JBrowse link
G ANLN anillin, actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr18:37,647,952...37,710,939
Ensembl chr18:37,647,961...37,708,575 		JBrowse link
G AR androgen receptor no_association ISO RGD PMID:15950642 RGD:1578688 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G ARHGAP23 Rho GTPase activating protein 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:23,581,698...23,667,939
Ensembl chr12:23,581,843...23,667,926 		JBrowse link
G ARHGAP30 Rho GTPase activating protein 30 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:89,375,486...89,394,190
Ensembl chr 4:89,375,526...89,394,244 		JBrowse link
G ASPM assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623 		JBrowse link
G ATF1 activating transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:16,619,130...16,681,391
Ensembl chr 5:16,618,623...16,681,686 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO mRNA, protein:decreased expression:pancreas (rat) RGD PMID:28397049 RGD:13703107 NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:7,867,521...7,874,857 JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21062263 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147 		JBrowse link
G BBOF1 basal body orientation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:97,316,630...97,367,526
Ensembl chr 7:97,316,711...97,368,049 		JBrowse link
G BCL11A BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:ovary		 CTD
RGD		 PMID:21062263 RGD:10054496 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:51,590,497...51,591,222
Ensembl chr 6:51,590,497...51,591,222 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:108,916,019...109,221,317
Ensembl chr 8:108,915,572...109,222,905 		JBrowse link
G CAPN10 calpain 10 ISO ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to ClinVar PMID:11017071 PMID:11481585 PMID:12161543 PMID:14574648 PMID:14602801 NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,469...139,568,767 		JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:75,222,528...75,241,243
Ensembl chr 7:75,222,521...75,241,277 		JBrowse link
G CCNB1 cyclin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:47,338,239...47,348,385
Ensembl chr16:47,338,110...47,348,377 		JBrowse link
G CCNE2 cyclin E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:41,802,090...41,821,870
Ensembl chr 4:41,804,377...41,821,874 		JBrowse link
G CD36 CD36 molecule ISO protein:decreased expression:cardiac muscle cell RGD PMID:25702158 RGD:11041149 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CDC6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:22,101,281...22,118,441
Ensembl chr12:22,101,282...22,118,593 		JBrowse link
G CDH15 cadherin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165 		JBrowse link
G CEP55 centrosomal protein 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:104,957,256...104,980,690
Ensembl chr14:104,957,311...104,980,689 		JBrowse link
G CIMAP1B ciliary microtubule associated protein 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:215,972...217,973
Ensembl chr 5:215,967...217,974 		JBrowse link
G CKS2 CDC28 protein kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:904,762...910,292
Ensembl chr14:904,809...910,289 		JBrowse link
G CLDN4 claudin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925 		JBrowse link
G CMTR2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:14,325,869...14,334,043
Ensembl chr 6:14,323,981...14,334,008 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:53,181,096...53,201,670
Ensembl chr12:53,181,642...53,201,667 		JBrowse link
G COMT catechol-O-methyltransferase ISO protein:increased expression:ovary RGD PMID:17535988 RGD:2289711 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO protein:increased activity:ovary follicle, theca cell (human) RGD PMID:11739466 RGD:4888511 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041 		JBrowse link
G CYP19A2 cytochrome P450 19A2 ISO mRNA, protein:decreased expresssion:ovary RGD PMID:23183180 PMID:23598873 RGD:7257717 RGD:7257726 NCBI chr 1:120,652,172...120,695,899
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G CYP19A3 cytochrome P450 19A3 susceptibility ISO DNA:missense mutation:cds:p.A264C (rs700519) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8265607 PMID:9177373 PMID:21262361 PMID:21282199 PMID:22381227 RGD:7257710 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:18339256 RGD:11576309 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G DACT3 dishevelled binding antagonist of beta catenin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:52,543,737...52,554,258
Ensembl chr 6:52,543,580...52,553,991 		JBrowse link
G DCBLD2 discoidin, CUB and LCCL domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:160,063,742...160,160,054
Ensembl chr13:160,063,742...160,160,284 		JBrowse link
G DDX54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:38,650,660...38,668,266
Ensembl chr14:38,645,891...38,668,265 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:70,114,475...70,134,348
Ensembl chr 2:70,117,060...70,134,348 		JBrowse link
G EMSY EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:10,628,053...10,715,814
Ensembl chr 9:10,628,053...10,716,396 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:68,667,651...68,682,629
Ensembl chr 6:68,669,153...68,682,623 		JBrowse link
G FBXO44 F-box protein 44 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:71,747,210...71,754,519
Ensembl chr 6:71,743,261...71,774,223 		JBrowse link
G FGF18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:52,724,867...52,760,246
Ensembl chr16:52,725,356...52,759,791 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G FOXP3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22885925 NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683 		JBrowse link
G FST follistatin ISO DNA:polymorphism RGD PMID:10411917 RGD:1601259 NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,932...32,811,421 		JBrowse link
G FUT7 fucosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543
G GAB1 GRB2 associated binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:84,257,958...84,391,511
Ensembl chr 8:84,257,965...84,391,914 		JBrowse link
G GDF9 growth differentiation factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr 2:135,181,494...135,184,451
Ensembl chr 2:135,181,089...135,187,026 		JBrowse link
G GIP gastric inhibitory polypeptide ISO associated with Obesity; protein:increased expression:plasma (human) RGD PMID:19375579 RGD:2312588 NCBI chr12:25,160,783...25,167,952
Ensembl chr12:25,160,789...25,167,940 		JBrowse link
G GNAS GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:35663203 RGD:401827905 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,162...43,929,409 		JBrowse link
G HELLS helicase, lymphoid specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:105,923,727...105,967,003
Ensembl chr14:105,924,536...105,955,430 		JBrowse link
G HMMR hyaluronan mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:60,290,684...60,332,411
Ensembl chr16:60,290,001...60,331,936 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,818,031...11,923,196 		JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO mRNA:decreased expression:ovarian cortex (rat) RGD PMID:25887459 RGD:10402205 NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992 		JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:ovary (rat)		 CTD
RGD		 PMID:19698287 PMID:22381227 RGD:4145934 NCBI chr 4:101,565,229...101,574,110 JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IL34 interleukin 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:13,588,748...13,679,864
Ensembl chr 6:13,588,787...13,659,895 		JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2777199 PMID:11889176 PMID:16123091 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841 		JBrowse link
G IQCC IQ motif containing C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:88,682,922...88,685,797
Ensembl chr 6:88,683,119...88,685,796 		JBrowse link
G ISYNA1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:59,363,672...59,367,003
Ensembl chr 2:59,363,716...59,367,002 		JBrowse link
G JSRP1 junctional sarcoplasmic reticulum protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:76,418,508...76,422,405
Ensembl chr 2:76,418,320...76,422,263 		JBrowse link
G KICS2 KICSTOR subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:28,656,227...28,679,095
Ensembl chr 5:28,653,236...28,678,859 		JBrowse link
G KRT3 keratin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:18,075,881...18,082,119
Ensembl chr 5:18,075,864...18,082,196 		JBrowse link
G LARP4 La ribonucleoprotein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:16,177,245...16,353,548
Ensembl chr 5:16,177,235...16,353,546 		JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11889176 PMID:20378617 NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086 		JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749 		JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G LOC102167255 leukemia inhibitory factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854 		JBrowse link
G LPCAT2 lysophosphatidylcholine acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:29,999,504...30,056,858
Ensembl chr 6:29,998,488...30,056,862 		JBrowse link
G LRATD1 LRAT domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:122,716,029...122,720,957
Ensembl chr 3:122,716,040...122,731,791 		JBrowse link
G LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr18:40,752,390...40,755,909
Ensembl chr18:40,752,461...40,755,906 		JBrowse link
G LTK leukocyte receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:129,863,837...129,867,254 JBrowse link
G MAD2L1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:103,927,358...103,936,669
Ensembl chr 8:103,927,353...103,936,664 		JBrowse link
G MANEA mannosidase endo-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:62,887,689...62,945,586
Ensembl chr 1:62,887,881...62,945,583 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:40,196,873...40,241,453
Ensembl chr 3:40,196,875...40,241,291 		JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:112,084,467...112,136,079
Ensembl chr 3:112,084,469...112,136,061 		JBrowse link
G MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:4,655,374...4,730,098
Ensembl chr12:4,655,379...4,730,371 		JBrowse link
G MIR222 microRNA mir-222 treatment ISO RNA:increased expression:blood RGD PMID:33230470 RGD:151893462 NCBI chr  X:40,571,808...40,571,887
Ensembl chr  X:40,571,808...40,571,887 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MTNR1B melatonin receptor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20207350 NCBI chr 9:25,556,756...25,557,792
Ensembl chr 9:25,545,390...25,558,054 		JBrowse link
G MYBL1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:68,120,078...68,159,513
Ensembl chr 4:68,119,865...68,159,509 		JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO RGD PMID:29535146 RGD:152985548 NCBI chr 4:64,888,029...65,245,757
Ensembl chr 4:64,954,238...65,246,572 		JBrowse link
G NCOA4 nuclear receptor coactivator 4 ISO protein:increased expression:endometrium RGD PMID:16580389 RGD:2293533 NCBI chr14:90,505,614...90,531,302
Ensembl chr14:90,505,110...90,531,118 		JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO DNA:hypomethylation:promoter:g.218, 224 (rat) RGD PMID:22349439 RGD:5688285 NCBI chr12:59,256,868...59,392,564
Ensembl chr12:59,273,100...59,392,562 		JBrowse link
G NGFR nerve growth factor receptor ISO mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356 		JBrowse link
G NMNAT3 nicotinamide nucleotide adenylyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:80,431,405...80,556,808
Ensembl chr13:80,429,639...80,556,790 		JBrowse link
G NOP53 NOP53 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:53,443,453...53,451,707
Ensembl chr 6:53,443,385...53,452,017 		JBrowse link
G NPB neuropeptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:1,092,643...1,093,361
Ensembl chr12:1,092,653...1,093,202 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:increased expression:ovary RGD PMID:22176470 RGD:7174741 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 treatment ISO RGD PMID:31925474 RGD:401976287 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412 		JBrowse link
G NRG1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505 		JBrowse link
G PBK PDZ binding kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:11,543,657...11,577,286
Ensembl chr14:11,543,603...11,566,702 		JBrowse link
G PDE3B phosphodiesterase 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:44,416,934...44,614,075
Ensembl chr 2:44,412,833...44,726,216 		JBrowse link
G PDLIM4 PDZ and LIM domain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:134,555,367...134,570,356
Ensembl chr 2:134,555,666...134,570,348 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:22456311 RGD:6767304 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293 		JBrowse link
G PGR progesterone receptor ISO protein:decreased expression:ovary: RGD PMID:19698287 RGD:4145934 NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182 		JBrowse link
G PRKD2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:52,559,066...52,599,174
Ensembl chr 6:52,559,393...52,599,132 		JBrowse link
G PTAFR platelet activating factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:85,235,390...85,272,360
Ensembl chr 6:85,235,394...85,261,760 		JBrowse link
G PTCRA pre T cell antigen receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:38,006,074...38,012,193
Ensembl chr 7:38,006,050...38,012,193 		JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286 		JBrowse link
G PWWP2B PWWP domain containing 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:140,635,806...140,657,675
Ensembl chr14:140,636,964...140,657,623 		JBrowse link
G RAB2A RAB2A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:72,800,617...72,882,183
Ensembl chr 4:72,800,623...72,882,151 		JBrowse link
G RACGAP1 Rac GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:15,894,314...15,943,619
Ensembl chr 5:15,904,712...15,943,609 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 treatment ISO RGD PMID:24762064 RGD:15036823 NCBI chr18:55,903,693...55,906,976
Ensembl chr18:55,903,699...55,906,945 		JBrowse link
G RASL10B RAS like family 10 member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:39,783,725...39,795,283
Ensembl chr12:39,783,729...39,795,069 		JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17456573 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:76,694,269...76,719,026
Ensembl chr 2:76,693,796...76,718,394 		JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:1,123,098...1,133,030
Ensembl chr 4:1,123,105...1,132,966 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:41,488,866...41,534,810
Ensembl chr  X:41,488,626...41,534,799 		JBrowse link
G RPL37A ribosomal protein L37a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:118,702,198...118,704,974
Ensembl chr15:118,702,325...118,706,909 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:126,357,198...126,367,145
Ensembl chr 3:126,347,819...126,365,644 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026 		JBrowse link
G S100A7 S100 calcium binding protein A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:96,176,718...96,178,694 JBrowse link
G SAP30L SAP30 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:68,695,892...68,709,952
Ensembl chr16:68,695,900...68,709,742 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SCT secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:19375763 RGD:13208505 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SFTPC surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor ISO protein:increased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387 		JBrowse link
G SOX15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:52,882,840...52,885,785 JBrowse link
G SPATA21 spermatogenesis associated 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:75,485,728...75,527,175
Ensembl chr 6:75,485,870...75,513,996 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:48,729,839...48,812,799
Ensembl chr 6:48,729,419...48,812,796 		JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 PMID:22381227 NCBI chr16:75,309,830...75,335,438
Ensembl chr16:75,310,211...75,335,391 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:81,727,893...81,741,516
Ensembl chr 6:81,727,901...81,741,496 		JBrowse link
G STAR steroidogenic acute regulatory protein ISO protein:increased expression:ovary (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19698287 PMID:21262361 RGD:4145934 NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462 		JBrowse link
G TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:8,827,363...8,852,814
Ensembl chr 5:8,826,840...8,852,776 		JBrowse link
G TBX1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G TCF15 transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:34,626,682...34,632,881
Ensembl chr17:34,626,670...34,633,263 		JBrowse link
G TEAD2 TEA domain transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:54,448,183...54,462,325
Ensembl chr 6:54,448,191...54,462,210 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276 		JBrowse link
G TH tyrosine hydroxylase ISO mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170 		JBrowse link
G THAP3 THAP domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:67,452,272...67,463,400
Ensembl chr 6:67,455,277...67,463,399 		JBrowse link
G TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:96,594,901...96,856,848
Ensembl chr15:96,594,970...96,855,743 		JBrowse link
G TMEM151A transmembrane protein 151A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:6,090,535...6,095,499
Ensembl chr 2:6,090,543...6,095,352 		JBrowse link
G TMEM151B transmembrane protein 151B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:39,265,507...39,276,289
Ensembl chr 7:39,268,056...39,307,825 		JBrowse link
G TMF1 TATA element modulatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:50,442,017...50,477,363
Ensembl chr13:50,444,256...50,477,291 		JBrowse link
G TNFSF10 TNF superfamily member 10 ISO protein:increased expression:ovary follicle, granulosa cell RGD PMID:17641850 RGD:2312746 NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324 		JBrowse link
G TNPO2 transportin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:66,267,776...66,288,763
Ensembl chr 2:66,271,496...66,288,264 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:8,052,434...8,311,811
Ensembl chr 5:8,063,985...8,311,429 		JBrowse link
G TONSL tonsoku like, DNA repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:349,992...361,749
Ensembl chr 4:350,060...362,167 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450 		JBrowse link
G TTK TTK protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:86,076,576...86,125,334
Ensembl chr 1:86,076,583...86,125,718 		JBrowse link
G TTLL9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:35,558,373...35,612,761
Ensembl chr17:35,558,525...35,609,033 		JBrowse link
G UBE2H ubiquitin conjugating enzyme E2 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr18:18,819,612...18,932,909
Ensembl chr18:18,819,641...18,932,904 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism,haplotype: :rs731236(human) RGD PMID:24078159 RGD:13210783 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G ZMYM5 zinc finger MYM-type containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:576,721...630,607
Ensembl chr11:576,723...630,557 		JBrowse link
G ZNF205 zinc finger protein 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:39,091,439...39,105,633
Ensembl chr 3:39,091,443...39,106,615 		JBrowse link
G ZSWIM9 zinc finger SWIM-type containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:53,660,222...53,678,145
Ensembl chr 6:53,660,330...53,678,043 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15423
    syndrome 10412
      polycystic ovary syndrome 173
        Fowler Christmas Chapple Syndrome 0
        Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 15423
    disease of anatomical entity 15092
      Urogenital Diseases 4851
        Female Urogenital Diseases and Pregnancy Complications 2559
          Female Urogenital Diseases 2106
            female reproductive system disease 2103
              Adnexal Diseases 1050
                ovarian disease 1041
                  ovarian dysfunction 186
                    polycystic ovary syndrome 173
                      Fowler Christmas Chapple Syndrome 0
                      Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 0
paths to the root