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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: OMIM: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 chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Adgrd2 adhesion G protein-coupled receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:16868149 RGD:8694433 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adm adrenomedullin ISO CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Adra1a adrenoceptor alpha 1A IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500 		JBrowse link
G Adra1b adrenoceptor alpha 1B IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919 		JBrowse link
G Adra1d adrenoceptor alpha 1D IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354 		JBrowse link
G Adrb2 adrenoceptor beta 2 IEP mRNA,protein:decreased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Adrb3 adrenoceptor beta 3 IEP mRNA:increased expression:gastrointestinal system mesentery, adipose tissue RGD PMID:19158405 RGD:2313167 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16263811 PMID:21262361 PMID:22381227 PMID:8402388 RGD:11541125 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISS OMIM:184700 MouseDO NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G Amh anti-Mullerian hormone ISO protein:increased expression:serum RGD PMID:17224152 RGD:1601181 NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282 		JBrowse link
G Anln anillin, actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538 		JBrowse link
G Ar androgen receptor no_association ISO RGD PMID:15950642 RGD:1578688 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arhgap23 Rho GTPase activating protein 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:82,437,578...82,496,846
Ensembl chr10:82,394,648...82,496,504 		JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Atf1 activating transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:131,361,962...131,404,677
Ensembl chr 7:131,362,450...131,404,670 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEP mRNA, protein:decreased expression:pancreas (rat) RGD PMID:28397049 RGD:13703107 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21062263 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bbof1 basal body orientation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP
ISO		 protein:increased expression:ovary
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21062263 PMID:21062263 RGD:10054496 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178 		JBrowse link
G Capn10 calpain 10 ISO DNA:SNPs
ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to		 ClinVar
RGD		 PMID:11017071 PMID:11481585 PMID:12161543 PMID:14574648 PMID:14602801 More... RGD:1625046 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225 		JBrowse link
G Ccnb1 cyclin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172 		JBrowse link
G Ccne2 cyclin E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:24,285,078...24,298,258
Ensembl chr 5:24,284,922...24,297,632 		JBrowse link
G Cd36 CD36 molecule IDA protein:decreased expression:cardiac muscle cell RGD PMID:25702158 RGD:11041149 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cdc6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011 		JBrowse link
G Cdh15 cadherin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
G Cep55 centrosomal protein 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:120,444,232...120,447,294
Ensembl chr 7:120,444,232...120,446,749 		JBrowse link
G Cks2 CDC28 protein kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:13,570,611...13,575,770 JBrowse link
G Cldn4 claudin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436 		JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849 		JBrowse link
G Comt catechol-O-methyltransferase ISO protein:increased expression:ovary RGD PMID:17535988 RGD:2289711 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO protein:increased activity:ovary follicle, theca cell (human) RGD PMID:11739466 RGD:4888511 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 susceptibility ISO
IEP
IMP		 DNA:missense mutation:cds:p.A264C (rs700519) (human)
mRNA, protein:decreased expresssion:ovary
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8265607 PMID:9177373 PMID:21262361 PMID:22381227 PMID:21282199 More... RGD:7257710, RGD:7257717, RGD:7257726 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:18339256 RGD:11576309 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630 		JBrowse link
G Dcbld2 discoidin, CUB and LCCL domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:42,125,525...42,179,927
Ensembl chr11:42,125,787...42,179,697 		JBrowse link
G Ddx54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:35,934,713...35,949,956
Ensembl chr12:35,934,716...35,972,523 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641 		JBrowse link
G Emsy EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:152,881,485...152,960,420
Ensembl chr 1:152,883,992...152,953,528 		JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282 		JBrowse link
G Fbxo44 F-box protein 44 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G Foxp3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22885925 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
G Fst follistatin ISO DNA:polymorphism RGD PMID:10411917 RGD:1601259 NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571 		JBrowse link
G Fut7 fucosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Gab1 GRB2-associated binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236 		JBrowse link
G Gdf9 growth differentiation factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr10:37,589,200...37,599,970
Ensembl chr10:37,595,679...37,599,672 		JBrowse link
G Gip gastric inhibitory polypeptide ISO associated with Obesity; protein:increased expression:plasma (human) RGD PMID:19375579 RGD:2312588 NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment IEP RGD PMID:35663203 RGD:401827905 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		JBrowse link
G Hells helicase, lymphoid specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844 		JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 IEP mRNA:decreased expression:ovarian cortex (rat) RGD PMID:25887459 RGD:10402205 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP
ISO		 protein:increased expression:ovary (rat)
protein:increased activity:ovary follicle, theca cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22381227 PMID:19698287 PMID:11739466 RGD:4145934, RGD:4888511 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Ighg1 immunoglobulin heavy constant gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 Ensembl chr 6:132,389,370...132,393,397 JBrowse link
G Il34 interleukin 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2777199 PMID:11889176 PMID:16123091 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Iqcc IQ motif containing C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:141,957,901...141,962,101
Ensembl chr 5:141,958,504...141,967,382 		JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979 		JBrowse link
G Kics2 KICSTOR subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:57,284,213...57,299,070
Ensembl chr 7:57,284,192...57,297,486 		JBrowse link
G Larp4 La ribonucleoprotein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:131,104,470...131,152,692
Ensembl chr 7:131,101,564...131,150,811 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11889176 PMID:20378617 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 		JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482 		JBrowse link
G Lifr LIF receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829 		JBrowse link
G Lratd1 LRAT domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:36,916,969...36,922,143
Ensembl chr 6:36,913,469...36,922,319 		JBrowse link
G Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:85,951,073...85,954,289
Ensembl chr 6:104,652,477...104,654,165
Ensembl chr 4:104,652,477...104,654,165 		JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:106,734,675...106,741,552
Ensembl chr 3:106,734,676...106,743,369 		JBrowse link
G Mad2l1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:95,906,692...95,918,885
Ensembl chr 4:95,906,817...95,913,470 		JBrowse link
G Manea mannosidase, endo-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:40,196,373...40,218,540
Ensembl chr 5:40,196,396...40,218,459 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273 		JBrowse link
G Mapre3 microtubule-associated protein, RP/EB family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:25,513,800...25,558,876
Ensembl chr 6:25,513,800...25,558,881 		JBrowse link
G Mgat5b alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:102,120,757...102,190,235
Ensembl chr10:102,120,445...102,190,233 		JBrowse link
G Mir222 microRNA 222 treatment ISO
IMP		 RNA:increased expression:blood RGD PMID:33230470 PMID:33230470 RGD:151893462, RGD:151893462 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP protein:decreased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Morn1 MORN repeat containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892 		JBrowse link
G Mtnr1b melatonin receptor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20207350 NCBI chr 8:12,638,219...12,652,737
Ensembl chr 8:12,638,219...12,652,737 		JBrowse link
G Mybl1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183 		JBrowse link
G Ncoa2 nuclear receptor coactivator 2 IDA RGD PMID:29535146 RGD:152985548 NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451 		JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO protein:increased expression:endometrium RGD PMID:16580389 RGD:2293533 NCBI chr16:7,389,222...7,409,564
Ensembl chr16:7,366,542...7,409,641
Ensembl chr16:7,366,542...7,409,641 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 IEP
IAGP		 mRNA:increased expression:ovary (rat)
DNA:hypomethylation:promoter:g.218, 224 (rat)		 RGD PMID:22349439 PMID:22349439 RGD:5688285, RGD:5688285 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032 		JBrowse link
G Ngfr nerve growth factor receptor IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nmnat3 nicotinamide nucleotide adenylyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:98,892,168...99,003,912
Ensembl chr 8:98,873,398...99,020,645 		JBrowse link
G Nop53 NOP53 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:76,629,084...76,636,902
Ensembl chr 1:76,629,069...76,636,902 		JBrowse link
G Npb neuropeptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:105,883,992...105,887,689
Ensembl chr10:105,874,708...105,887,254 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP mRNA:increased expression:ovary RGD PMID:22176470 RGD:7174741 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 treatment IMP RGD PMID:31925474 RGD:401976287 NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Pbk PDZ binding kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:40,022,873...40,034,014
Ensembl chr15:40,023,002...40,034,014 		JBrowse link
G Pde3b phosphodiesterase 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:168,606,762...168,770,078
Ensembl chr 1:168,607,022...168,769,334 		JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:22456311 RGD:6767304 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pgr progesterone receptor IEP protein:decreased expression:ovary: RGD PMID:19698287 RGD:4145934 NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376 		JBrowse link
G Ptafr platelet-activating factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251 		JBrowse link
G Ptcra pre T-cell antigen receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:14,218,907...14,229,141
Ensembl chr 9:14,218,802...14,229,235 		JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434 		JBrowse link
G Pwwp2b PWWP domain containing 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:194,040,395...194,059,979
Ensembl chr 1:194,041,341...194,059,958 		JBrowse link
G Rab2a RAB2A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:21,676,017...21,740,035
Ensembl chr 5:21,676,129...21,739,899 		JBrowse link
G Racgap1 Rac GTPase-activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:130,750,936...130,780,891
Ensembl chr 7:130,750,936...130,780,831 		JBrowse link
G Rarres2 retinoic acid receptor responder 2 treatment IEP RGD PMID:24762064 RGD:15036823 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556 		JBrowse link
G Rasl10b RAS-like, family 10, member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:68,209,761...68,222,118
Ensembl chr10:68,210,275...68,220,376 		JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17456573 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:9,154,050...9,174,035
Ensembl chr 7:9,154,061...9,173,454 		JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Rpl37a ribosomal protein L37A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:74,298,843...74,300,926 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G S100a7a S100 calcium binding protein A7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441 		JBrowse link
G Sap30l SAP30-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:41,979,730...41,992,307
Ensembl chr10:41,979,687...41,987,658 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:19375763 RGD:13208505 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor IEP protein:increased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453 		JBrowse link
G Sox15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591 		JBrowse link
G Spata21 spermatogenesis associated 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:153,393,309...153,419,430
Ensembl chr 5:153,393,365...153,418,561 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228 		JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 PMID:22381227 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461 		JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768 		JBrowse link
G Star steroidogenic acute regulatory protein IEP
ISO		 protein:increased expression:ovary (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21262361 PMID:19698287 RGD:4145934 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:111,675,829...111,707,058
Ensembl chr 7:111,686,371...111,707,058 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tcf15 transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:140,638,984...140,644,766
Ensembl chr 3:140,638,984...140,644,766 		JBrowse link
G Tead2 TEA domain transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:95,702,366...95,719,186
Ensembl chr 1:95,703,005...95,719,186 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Th tyrosine hydroxylase IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Thap3 THAP domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:162,488,480...162,494,149
Ensembl chr 5:162,488,480...162,494,149 		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 chr 9:50,445,947...50,733,473
Ensembl chr 9:50,436,079...50,733,475 		JBrowse link
G Tmem151a transmembrane protein 151A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182 		JBrowse link
G Tmem151b transmembrane protein 151B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:15,456,446...15,464,289
Ensembl chr 9:15,455,801...15,464,302 		JBrowse link
G Tmf1 TATA element modulatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:129,759,952...129,785,705
Ensembl chr 4:129,763,114...129,785,629 		JBrowse link
G Tnfsf10 TNF superfamily member 10 IEP protein:increased expression:ovary follicle, granulosa cell RGD PMID:17641850 RGD:2312746 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Tnpo2 transportin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874 		JBrowse link
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:70,507,347...70,523,013
Ensembl chr 4:70,507,348...70,523,017 		JBrowse link
G Ttk Ttk protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:84,754,329...84,792,653
Ensembl chr 8:84,754,315...84,792,651 		JBrowse link
G Ttll9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:141,429,351...141,475,965
Ensembl chr 3:141,429,444...141,475,865 		JBrowse link
G Ube2h ubiquitin-conjugating enzyme E2H ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:58,834,674...58,930,156
Ensembl chr 4:58,834,674...58,930,156 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism,haplotype: :rs731236(human) RGD PMID:24078159 RGD:13210783 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Zfp13 zinc finger protein 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:12,615,455...12,623,615
Ensembl chr10:12,615,190...12,623,615 		JBrowse link
G Zmym5 zinc finger MYM-type containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:30,920,479...30,941,249
Ensembl chr15:30,923,241...30,941,240 		JBrowse link
G Zswim9 zinc finger SWIM-type containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:74,144,818...74,165,804
Ensembl chr 1:74,144,814...74,166,009 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      polycystic ovary syndrome 174
        Fowler Christmas Chapple Syndrome 0
        Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              Adnexal Diseases 903
                ovarian disease 894
                  ovarian dysfunction 192
                    polycystic ovary syndrome 174
                      Fowler Christmas Chapple Syndrome 0
                      Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 0
paths to the root