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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
 primary_id: MESH:D011085
 alt_id: OMIM:184700
 xref: ICD10CM:E28.2;   ICD9CM:256.4;   NCI:C26862;   NCI:C92847
For additional species annotation, visit the Alliance of Genome Resources.


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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 9:82,373,950...82,382,228
Ensembl chr 9:82,373,946...82,382,272
JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:97,535,777...97,575,661
Ensembl chr 8:97,535,777...97,575,655
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:16868149 RGD:8694433 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adm adrenomedullin ISO CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Adra1a adrenoceptor alpha 1A IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr15:43,296,997...43,398,314
Ensembl chr15:43,298,794...43,392,451
JBrowse link
G Adra1b adrenoceptor alpha 1B IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
JBrowse link
G Adra1d adrenoceptor alpha 1D IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr 3:124,129,558...124,145,566
Ensembl chr 3:124,129,558...124,145,566
JBrowse link
G Adrb2 adrenoceptor beta 2 IEP mRNA,protein:decreased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Adrb3 adrenoceptor beta 3 IEP mRNA:increased expression:gastrointestinal system mesentery, adipose tissue RGD PMID:19158405 RGD:2313167 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16263811 PMID:21262361 PMID:22381227, PMID:8402388 RGD:11541125 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISS OMIM:184700 MouseDO NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Amh anti-Mullerian hormone ISO protein:increased expression:serum RGD PMID:17224152 RGD:1601181 NCBI chr 7:11,775,155...11,777,503
Ensembl chr 7:11,775,155...11,777,503
JBrowse link
G Anln anillin, actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:23,336,455...23,397,122
Ensembl chr 8:23,337,621...23,390,773
JBrowse link
G Ar androgen receptor no_association ISO RGD PMID:15950642 RGD:1578688 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Arhgap23 Rho GTPase activating protein 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:85,387,219...85,445,805
Ensembl chr10:85,384,881...85,444,556
JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:89,774,764...89,796,113
Ensembl chr13:89,774,764...89,796,113
JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Atf1 activating transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:141,882,261...141,924,790
Ensembl chr 7:141,882,251...141,924,788
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEP mRNA, protein:decreased expression:pancreas (rat) RGD PMID:28397049 RGD:13703107 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:19,196,565...19,203,094
Ensembl chr12:19,196,611...19,202,647
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21062263 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bbof1 basal body orientation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:108,123,855...108,149,613
Ensembl chr 6:108,123,816...108,149,607
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP
ISO
protein:increased expression:ovary
CTD Direct Evidence: marker/mechanism
CTD PMID:21062263, PMID:21062263 RGD:10054496 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:230,900,907...231,132,207
Ensembl chr 2:230,901,126...231,132,039
JBrowse link
G Capn10 calpain 10 ISO DNA:SNPs RGD PMID:17106059 RGD:1625046 NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:34,167,146...34,184,799
Ensembl chr15:34,167,945...34,184,799
JBrowse link
G Ccnb1 cyclin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:30,782,133...30,791,106
Ensembl chr 2:30,783,915...30,791,221
JBrowse link
G Ccne2 cyclin E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:24,434,077...24,446,406
Ensembl chr 5:24,434,872...24,446,406
JBrowse link
G Cd36 CD36 molecule IDA protein:decreased expression:cardiac muscle cell RGD PMID:25702158 RGD:11041149 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cdc6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402
JBrowse link
G Cdh15 cadherin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:55,669,661...55,689,986
Ensembl chr19:55,669,626...55,689,992
JBrowse link
G Cep55 centrosomal protein 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
JBrowse link
G Cks2 CDC28 protein kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:13,587,664...13,593,423
Ensembl chr17:13,587,665...13,593,423
JBrowse link
G Cldn4 claudin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:24,761,210...24,763,008
Ensembl chr12:24,761,210...24,763,005
JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:41,426,536...41,433,367
Ensembl chr19:41,427,504...41,433,346
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:55,901,929...55,927,121
Ensembl chr10:55,901,901...55,924,158
JBrowse link
G Comt catechol-O-methyltransferase ISO protein:increased expression:ovary RGD PMID:17535988 RGD:2289711 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 susceptibility ISO
IMP
IEP
DNA:missense mutation:cds:p.A264C (rs700519) (human)
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expresssion:ovary
CTD PMID:8265607 PMID:9177373 PMID:21262361 PMID:22381227, PMID:21282199, PMID:23183180, PMID:23598873 RGD:7257710, RGD:7257726, RGD:7257717 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:18339256 RGD:11576309 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:78,800,754...78,812,483
Ensembl chr 1:78,800,754...78,812,483
JBrowse link
G Dcbld2 discoidin, CUB and LCCL domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:44,237,814...44,292,884
Ensembl chr11:44,241,111...44,292,884
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:41,469,642...41,484,887
Ensembl chr12:41,470,557...41,485,122
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:23,029,980...23,063,477
Ensembl chr 8:23,030,118...23,063,041
JBrowse link
G Emsy EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:163,541,071...163,618,576
Ensembl chr 1:163,545,326...163,611,299
JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:167,951,564...167,966,011
Ensembl chr 5:167,952,728...167,966,009
JBrowse link
G Fbxo44 F-box protein 44 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:164,962,921...164,972,273
Ensembl chr 5:164,963,433...164,971,903
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:18,047,109...18,082,290
Ensembl chr10:18,047,109...18,063,391
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
G Foxp3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Fshr follicle stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22885925 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link
G Fst follistatin ISO DNA:polymorphism RGD PMID:10411917 RGD:1601259 NCBI chr 2:46,537,589...46,544,813
Ensembl chr 2:46,538,700...46,544,457
JBrowse link
G Fut7 fucosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:2,637,281...2,646,497
Ensembl chr 3:2,642,531...2,646,648
JBrowse link
G Gab1 GRB2-associated binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:30,794,290...30,903,819
Ensembl chr19:30,794,571...30,902,008
JBrowse link
G Gdf9 growth differentiation factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr10:38,782,519...38,793,238
Ensembl chr10:38,788,992...38,792,940
JBrowse link
G Gip gastric inhibitory polypeptide ISO associated with Obesity; protein:increased expression:plasma (human) RGD PMID:19375579 RGD:2312588 NCBI chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:81,173,238...81,196,012
Ensembl chr17:81,173,713...81,187,739
JBrowse link
G Hells helicase, lymphoid specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:257,901,856...257,953,889
Ensembl chr 1:257,766,691...257,949,183
Ensembl chr 1:257,766,691...257,949,183
JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:25,861,490...25,890,639
Ensembl chr10:25,861,490...25,890,639
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 IEP mRNA:decreased expression:ovarian cortex (rat) RGD PMID:25887459 RGD:10402205 NCBI chr13:88,288,116...88,308,019
Ensembl chr13:88,288,046...88,307,988
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP
ISO
protein:increased expression:ovary (rat)
CTD Direct Evidence: marker/mechanism
protein:increased activity:ovary follicle, theca cell (human)
CTD PMID:22381227, PMID:19698287, PMID:11739466 RGD:4145934, RGD:4888511
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 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Ighg1 immunoglobulin heavy constant gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:139,140,572...139,784,388
Ensembl chr 6:139,140,679...139,142,218
JBrowse link
G Il34 interleukin 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:40,855,537...40,905,007
Ensembl chr19:40,855,433...40,904,121
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2777199 PMID:11889176 PMID:16123091 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Iqcc IQ motif containing C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:147,819,040...147,823,281
Ensembl chr 5:147,819,618...147,823,232
JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:20,589,497...20,592,333
Ensembl chr16:20,589,481...20,592,449
JBrowse link
G Kics2 KICSTOR subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:63,922,871...63,937,721
Ensembl chr 7:63,922,879...63,936,385
JBrowse link
G Larp4 La ribonucleoprotein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:141,630,229...141,676,242 JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11889176 PMID:20378617 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:84,482,652...84,500,574
Ensembl chr14:84,482,674...84,500,642
JBrowse link
G Lifr LIF receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:15,470,177...15,540,704
Ensembl chr19:15,469,303...15,540,773
JBrowse link
G Lratd1 LRAT domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:39,358,285...39,363,458
Ensembl chr 6:39,358,985...39,363,458
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 4:87,016,003...87,019,219
Ensembl chr 4:87,016,003...87,019,219
Ensembl chr 6:87,016,003...87,019,219
JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:111,553,679...111,560,556
Ensembl chr 3:111,553,680...111,560,556
JBrowse link
G Mad2l1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:97,530,993...97,543,179
Ensembl chr 4:97,531,083...97,537,086
JBrowse link
G Manea mannosidase, endo-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:40,845,103...40,867,025
Ensembl chr 5:40,844,998...40,867,023
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
JBrowse link
G Mapre3 microtubule-associated protein, RP/EB family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:26,878,738...26,923,459
Ensembl chr 6:26,878,744...26,889,882
JBrowse link
G Mgat5b alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:105,861,734...105,932,048
Ensembl chr10:105,861,743...105,932,042
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP protein:decreased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Morn1 MORN repeat containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058
JBrowse link
G Mtnr1b melatonin receptor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20207350 NCBI chr 8:14,359,270...14,373,894
Ensembl chr 8:14,359,270...14,373,894
JBrowse link
G Mybl1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:9,279,756...9,315,112
Ensembl chr 5:9,279,970...9,315,114
JBrowse link
G Ncoa4 nuclear receptor coactivator 4 ISO protein:increased expression:endometrium RGD PMID:16580389 RGD:2293533 NCBI chr16:8,302,950...8,323,294
Ensembl chr16:8,302,950...8,323,293
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 chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Ngfr nerve growth factor receptor IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nmnat3 nicotinamide nucleotide adenylyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:106,317,038...106,429,535
Ensembl chr 8:106,317,124...106,429,522
JBrowse link
G Nop53 NOP53 ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:77,836,522...77,843,991
Ensembl chr 1:77,836,196...77,844,189
JBrowse link
G Npb neuropeptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:109,786,222...109,786,656
Ensembl chr10:109,786,222...109,786,656
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP mRNA:increased expression:ovary RGD PMID:22176470 RGD:7174741 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:130,347,945...130,351,573
Ensembl chr 7:130,347,945...130,350,570
JBrowse link
G Pbk PDZ binding kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:42,489,253...42,500,377
Ensembl chr15:42,489,377...42,500,395
JBrowse link
G Pde3b phosphodiesterase 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:183,892,841...184,078,071
Ensembl chr 1:183,892,841...184,078,071
JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:39,390,578...39,405,322
Ensembl chr10:39,390,581...39,405,311
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:22456311 RGD:6767304 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Pgr progesterone receptor IEP protein:decreased expression:ovary: RGD PMID:19698287 RGD:4145934 NCBI chr 8:7,128,656...7,187,796
Ensembl chr 8:7,128,656...7,187,796
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
Ensembl chr 1:214,434,626...214,439,720
JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:78,767,911...78,796,223
Ensembl chr 1:78,767,911...78,796,231
JBrowse link
G Ptafr platelet-activating factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
JBrowse link
G Ptcra pre T-cell antigen receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:16,528,970...16,539,383
Ensembl chr 9:16,529,579...16,539,472
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
JBrowse link
G Pwwp2b PWWP domain containing 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:211,579,706...211,600,715
Ensembl chr 1:211,582,077...211,600,689
JBrowse link
G Rab2a RAB2A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:21,632,654...21,696,721
Ensembl chr 5:21,632,926...21,695,519
JBrowse link
G Racgap1 Rac GTPase-activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:141,277,303...141,308,849
Ensembl chr 7:141,277,312...141,307,233
JBrowse link
G Rarres2 retinoic acid receptor responder 2 treatment IEP RGD PMID:24762064 RGD:15036823 NCBI chr 4:78,205,809...78,208,956
Ensembl chr 4:78,205,812...78,208,767
JBrowse link
G Rasl10b RAS-like, family 10, member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:70,626,227...70,639,072
Ensembl chr10:70,627,401...70,637,332
JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17456573 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:12,022,268...12,041,660
Ensembl chr 7:12,022,285...12,041,701
JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:116,738,999...116,749,791
Ensembl chr 7:116,739,062...116,748,715
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
G Rpl37a ribosomal protein L37a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:80,002,892...80,004,995 JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G S100a7a S100 calcium binding protein A7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:190,058,093...190,063,132
Ensembl chr 2:190,058,093...190,062,534
JBrowse link
G Sap30l SAP30-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:43,224,151...43,231,864
Ensembl chr10:43,224,269...43,231,611
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:19375763 RGD:13208505 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor IEP protein:increased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr 3:160,799,979...160,802,228
Ensembl chr 3:160,799,981...160,802,433
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503
JBrowse link
G Spata21 spermatogenesis associated 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:159,612,541...159,638,073
Ensembl chr 5:159,612,762...159,638,076
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:84,168,494...84,254,679
Ensembl chr 1:84,168,495...84,254,645
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 PMID:22381227 NCBI chr 1:36,320,504...36,354,694
Ensembl chr 1:36,320,461...36,354,756
JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:154,205,358...154,219,550
Ensembl chr 5:154,205,402...154,213,801
JBrowse link
G Star steroidogenic acute regulatory protein IEP
ISO
protein:increased expression:ovary (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21262361, PMID:19698287 RGD:4145934 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:121,350,953...121,382,100
Ensembl chr 7:121,350,965...121,382,088
JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tcf15 transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:147,643,250...147,649,511
Ensembl chr 3:147,643,250...147,649,504
JBrowse link
G Tead2 TEA domain transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:101,213,782...101,230,483
Ensembl chr 1:101,213,788...101,230,477
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Th tyrosine hydroxylase IEP mRNA,protein:increased expression:ovary RGD PMID:15795180 RGD:5508374 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Thap3 THAP domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:169,155,239...169,160,987
Ensembl chr 5:169,155,239...169,160,987
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 9:55,379,130...55,673,704
Ensembl chr 9:55,384,100...55,673,829
JBrowse link
G Tmem151a transmembrane protein 151A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:220,373,288...220,378,080
Ensembl chr 1:220,373,290...220,467,159
JBrowse link
G Tmem151b transmembrane protein 151B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:17,841,410...17,846,535
Ensembl chr 9:17,841,410...17,845,921
JBrowse link
G Tmf1 TATA element modulatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:129,521,986...129,546,024
Ensembl chr 4:129,521,991...129,544,506
JBrowse link
G Tnfsf10 TNF superfamily member 10 IEP protein:increased expression:ovary follicle, granulosa cell RGD PMID:17641850 RGD:2312746 NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
JBrowse link
G Tnpo2 transportin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:26,149,671...26,171,812
Ensembl chr19:26,151,900...26,171,808
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:121,930,610...122,147,934
Ensembl chr 7:121,930,615...122,147,934
JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:117,688,397...117,703,139
Ensembl chr 7:117,688,397...117,703,094
JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
JBrowse link
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:70,918,631...70,934,291
Ensembl chr 4:70,918,632...70,934,295
JBrowse link
G Ttk Ttk protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:91,368,065...91,405,995
Ensembl chr 8:91,368,111...91,405,993
JBrowse link
G Ttll9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:148,426,008...148,485,370
Ensembl chr 3:148,438,939...148,485,360
JBrowse link
G Ube2h ubiquitin-conjugating enzyme E2H ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:57,511,418...57,625,147
Ensembl chr 4:57,511,418...57,625,257
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism,haplotype: :rs731236(human) RGD PMID:24078159 RGD:13210783 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Zfp13 zinc finger protein 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:12,908,643...12,916,784
Ensembl chr10:12,908,643...12,916,784
JBrowse link
G Zmym5 zinc finger MYM-type containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:37,039,481...37,061,958
Ensembl chr15:37,042,396...37,056,892
JBrowse link
G Zswim9 zinc finger SWIM-type containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:75,335,183...75,356,130
Ensembl chr 1:75,335,894...75,354,820
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    syndrome 8040
      polycystic ovary syndrome 168
        Fowler Christmas Chapple Syndrome 0
        Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      Urogenital Diseases 4336
        Female Urogenital Diseases and Pregnancy Complications 2040
          Female Urogenital Diseases 1737
            female reproductive system disease 1733
              Adnexal Diseases 796
                ovarian disease 787
                  ovarian dysfunction 182
                    polycystic ovary syndrome 168
                      Fowler Christmas Chapple Syndrome 0
                      Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 0
paths to the root