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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.



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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 (Langereis blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
JBrowse link
G ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:78,759,206...78,811,464
Ensembl chr15:78,759,206...78,811,464
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
JBrowse link
G ADGRD2 adhesion G protein-coupled receptor D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:124,450,451...124,478,580
Ensembl chr 9:124,450,451...124,478,589
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP RGD PMID:16868149 RGD:8694433 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADM adrenomedullin EXP CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ADRA1A adrenoceptor alpha 1A ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278
JBrowse link
G ADRA1B adrenoceptor alpha 1B ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr 5:159,865,086...159,989,205
Ensembl chr 5:159,865,080...159,973,012
JBrowse link
G ADRA1D adrenoceptor alpha 1D ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr20:4,220,630...4,249,287
Ensembl chr20:4,220,630...4,249,287
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO mRNA,protein:decreased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO mRNA:increased expression:gastrointestinal system mesentery, adipose tissue RGD PMID:19158405 RGD:2313167 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G AKR1C1 aldo-keto reductase family 1 member C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283
JBrowse link
G AKR1C2 aldo-keto reductase family 1 member C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031
JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16263811 PMID:21262361 PMID:22381227 PMID:8402388 RGD:11541125 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686
JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISS OMIM:184700 MouseDO NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
JBrowse link
G AMH anti-Mullerian hormone IEP protein:increased expression:serum RGD PMID:17224152 RGD:1601181 NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073
JBrowse link
G ANLN anillin, actin binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791
JBrowse link
G AR androgen receptor no_association IAGP RGD PMID:15950642 RGD:1578688 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G ARHGAP23 Rho GTPase activating protein 23 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:38,419,275...38,512,385
Ensembl chr17:38,419,280...38,512,385
JBrowse link
G ARHGAP30 Rho GTPase activating protein 30 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:161,046,946...161,069,891
Ensembl chr 1:161,046,946...161,069,970
JBrowse link
G ASPM assembly factor for spindle microtubules EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694
JBrowse link
G ATF1 activating transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:50,763,459...50,821,162
Ensembl chr12:50,763,710...50,821,162
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO mRNA, protein:decreased expression:pancreas (rat) RGD PMID:28397049 RGD:13703107 NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:99,966,730...99,976,031
Ensembl chr 7:99,966,720...99,976,042
JBrowse link
G BAX BCL2 associated X, apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:21062263 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BBOF1 basal body orientation factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:74,019,349...74,082,864
Ensembl chr14:74,019,349...74,082,863
JBrowse link
G BCL11A BCL11 transcription factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO
EXP
protein:increased expression:ovary
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21062263 PMID:21062263 RGD:10054496 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:45,178,784...45,217,083
Ensembl chr19:45,178,784...45,216,933
JBrowse link
G BMP15 bone morphogenetic protein 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641
JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
JBrowse link
G CAPN10 calpain 10 IAGP 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 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:24,052,009...24,069,729
Ensembl chr14:24,052,009...24,069,729
JBrowse link
G CCNB1 cyclin B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245
JBrowse link
G CCNE2 cyclin E2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:94,880,224...94,896,693
Ensembl chr 8:94,879,770...94,896,678
JBrowse link
G CD36 CD36 molecule ISO protein:decreased expression:cardiac muscle cell RGD PMID:25702158 RGD:11041149 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CDC6 cell division cycle 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
JBrowse link
G CDH15 cadherin 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:89,171,748...89,195,492
Ensembl chr16:89,171,748...89,195,492
JBrowse link
G CEP55 centrosomal protein 55 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092
JBrowse link
G CGB5 chorionic gonadotropin subunit beta 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:49,043,848...49,045,311
Ensembl chr19:49,043,848...49,045,311
JBrowse link
G CKS2 CDC28 protein kinase regulatory subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:89,311,195...89,316,703
Ensembl chr 9:89,311,195...89,316,703
JBrowse link
G CLDN4 claudin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:73,830,996...73,832,690
Ensembl chr 7:73,799,542...73,832,690
JBrowse link
G CMTR2 cap methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:71,281,392...71,289,722
Ensembl chr16:71,281,389...71,289,715
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:7,932,081...7,949,920
Ensembl chr17:7,932,101...7,949,920
JBrowse link
G COMT catechol-O-methyltransferase IEP protein:increased expression:ovary RGD PMID:17535988 RGD:2289711 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IEP protein:increased activity:ovary follicle, theca cell (human) RGD PMID:11739466 RGD:4888511 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 susceptibility IAGP
ISO
EXP
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 chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP RGD PMID:18339256 RGD:11576309 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G DACT3 dishevelled binding antagonist of beta catenin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:46,647,551...46,661,182
Ensembl chr19:46,647,551...46,661,182
JBrowse link
G DCBLD2 discoidin, CUB and LCCL domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:98,795,941...98,901,695
Ensembl chr 3:98,795,941...98,901,695
JBrowse link
G DDX54 DEAD-box helicase 54 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:113,157,173...113,185,478
Ensembl chr12:113,157,173...113,185,479
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841
JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DUX4L5 double homeobox 4 like 5 (pseudogene) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:190,077,818...190,079,102
Ensembl chr 4:190,077,818...190,079,092
JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:11,451,326...11,481,046
Ensembl chr19:11,451,326...11,481,046
JBrowse link
G EMSY EMSY transcriptional repressor, BRCA2 interacting EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:76,445,018...76,553,031
Ensembl chr11:76,444,923...76,553,031
JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:8,011,727...8,026,309
Ensembl chr 1:8,004,404...8,026,309
JBrowse link
G FBXO44 F-box protein 44 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:11,654,407...11,663,327
Ensembl chr 1:11,654,375...11,663,327
JBrowse link
G FGF18 fibroblast growth factor 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:171,419,647...171,457,626
Ensembl chr 5:171,419,647...171,457,626
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
JBrowse link
G FOXP3 forkhead box P3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G FSHR follicle stimulating hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22885925 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
JBrowse link
G FST follistatin IAGP DNA:polymorphism RGD PMID:10411917 RGD:1601259 NCBI chr 5:53,480,629...53,487,134
Ensembl chr 5:53,480,626...53,487,134
JBrowse link
G FUT7 fucosyltransferase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:137,030,174...137,032,088
Ensembl chr 9:137,030,174...137,032,088
JBrowse link
G GAB1 GRB2 associated binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:143,336,876...143,474,565
Ensembl chr 4:143,336,762...143,474,568
JBrowse link
G GDF9 growth differentiation factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884
JBrowse link
G GIP gastric inhibitory polypeptide IEP associated with Obesity; protein:increased expression:plasma (human) RGD PMID:19375579 RGD:2312588 NCBI chr17:48,958,554...48,968,596
Ensembl chr17:48,958,554...48,968,596
JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G HELLS helicase, lymphoid specific EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905
JBrowse link
G HMMR hyaluronan mediated motility receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:163,460,632...163,491,941
Ensembl chr 5:163,460,203...163,491,941
JBrowse link
G HOOK3 hook microtubule tethering protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO mRNA:decreased expression:ovarian cortex (rat) RGD PMID:25887459 RGD:10402205 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO
IEP
EXP
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 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071
JBrowse link
G IL34 interleukin 34 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:70,579,899...70,660,682
Ensembl chr16:70,579,895...70,660,682
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:2777199 PMID:11889176 PMID:16123091 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G IQCC IQ motif containing C EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:32,205,671...32,208,682
Ensembl chr 1:32,205,671...32,208,682
JBrowse link
G ISYNA1 inositol-3-phosphate synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:18,434,388...18,438,133
Ensembl chr19:18,434,388...18,438,167
JBrowse link
G JSRP1 junctional sarcoplasmic reticulum protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:2,252,252...2,256,417
Ensembl chr19:2,252,252...2,269,759
JBrowse link
G KICS2 KICSTOR subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:64,186,316...64,222,296
Ensembl chr12:64,186,316...64,222,296
JBrowse link
G KRT3 keratin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:52,789,685...52,796,117
Ensembl chr12:52,789,685...52,796,117
JBrowse link
G LARP4 La ribonucleoprotein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:50,400,885...50,480,004
Ensembl chr12:50,392,383...50,480,004
JBrowse link
G LEP leptin EXP CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LHB luteinizing hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:11889176 PMID:20378617 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
JBrowse link
G LIF LIF interleukin 6 family cytokine EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:30,240,453...30,246,759
Ensembl chr22:30,240,453...30,246,759
JBrowse link
G LIFR LIF receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G LINC00475 long intergenic non-protein coding RNA 475 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 9:92,141,467...92,159,608
Ensembl chr 9:92,141,438...92,141,650
JBrowse link
G LMNA lamin A/C EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LPCAT2 lysophosphatidylcholine acyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:55,509,072...55,586,666
Ensembl chr16:55,509,072...55,586,666
JBrowse link
G LRATD1 LRAT domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:14,632,717...14,651,916
Ensembl chr 2:14,632,700...14,650,814
JBrowse link
G LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:32,485,338...32,495,283
Ensembl chr 7:32,485,338...32,495,283
JBrowse link
G LTK leukocyte receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr15:41,503,637...41,513,827
Ensembl chr15:41,503,637...41,513,887
JBrowse link
G MAD2L1 mitotic arrest deficient 2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:120,055,623...120,066,848
Ensembl chr 4:120,055,623...120,066,858
JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,688...65,506,516
JBrowse link
G MANEA mannosidase endo-alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:95,577,535...95,609,452
Ensembl chr 6:95,577,485...95,609,470
JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:26,970,637...27,027,219
Ensembl chr 2:26,970,637...27,027,219
JBrowse link
G MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:76,868,404...76,950,393
Ensembl chr17:76,868,404...76,950,393
JBrowse link
G MIR222 microRNA 222 treatment IEP
ISO
RNA:increased expression:blood RGD PMID:33230470 PMID:33230470 RGD:151893462, RGD:151893462 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MORN1 MORN repeat containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707
JBrowse link
G MTNR1B melatonin receptor 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20207350 NCBI chr11:92,969,651...92,984,960
Ensembl chr11:92,969,651...92,985,066
JBrowse link
G MYBL1 MYB proto-oncogene like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:66,562,175...66,613,218
Ensembl chr 8:66,562,175...66,614,247
JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO RGD PMID:29535146 RGD:152985548 NCBI chr 8:70,109,782...70,456,446
Ensembl chr 8:70,109,782...70,403,808
JBrowse link
G NCOA4 nuclear receptor coactivator 4 IEP protein:increased expression:endometrium RGD PMID:16580389 RGD:2293533 NCBI chr10:46,005,088...46,030,623
Ensembl chr10:46,005,088...46,030,623
JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO mRNA:increased expression:ovary (rat) RGD PMID:22349439 RGD:5688285 NCBI chr17:16,029,157...16,215,534
Ensembl chr17:16,029,065...16,218,185
JBrowse link
G NGFR nerve growth factor receptor ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NMNAT3 nicotinamide nucleotide adenylyltransferase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:139,560,180...139,678,050
Ensembl chr 3:139,560,180...139,678,017
JBrowse link
G NOP53 NOP53 ribosome biogenesis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:47,745,546...47,757,058
Ensembl chr19:47,745,546...47,757,058
JBrowse link
G NPB neuropeptide B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:81,902,238...81,902,905
Ensembl chr17:81,900,745...81,902,905
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:increased expression:ovary RGD PMID:22176470 RGD:7174741 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G NRG1 neuregulin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G ODF3B outer dense fiber of sperm tails 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:50,530,426...50,532,498
Ensembl chr22:50,529,710...50,532,506
JBrowse link
G PBK PDZ binding kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:27,809,624...27,837,817
Ensembl chr 8:27,809,624...27,838,082
JBrowse link
G PDE3B phosphodiesterase 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:14,643,804...14,872,044
Ensembl chr11:14,643,804...14,872,044
JBrowse link
G PDLIM4 PDZ and LIM domain 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:132,257,696...132,273,454
Ensembl chr 5:132,257,696...132,273,454
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 IEP protein:increased expression:serum (human) RGD PMID:22456311 RGD:6767304 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PGR progesterone receptor ISO protein:decreased expression:ovary: RGD PMID:19698287 RGD:4145934 NCBI chr11:101,029,624...101,129,813
Ensembl chr11:101,029,624...101,129,813
JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:6,466,092...6,520,092
Ensembl chr 1:6,467,122...6,520,074
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G PRKD2 protein kinase D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:46,674,316...46,717,114
Ensembl chr19:46,674,275...46,717,127
JBrowse link
G PTAFR platelet activating factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:28,147,166...28,193,856
Ensembl chr 1:28,147,166...28,193,936
JBrowse link
G PTCRA pre T cell antigen receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:42,916,053...42,925,838
Ensembl chr 6:42,915,989...42,925,838
JBrowse link
G PTGER3 prostaglandin E receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816
JBrowse link
G PWWP2B PWWP domain containing 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr10:132,397,200...132,417,859
Ensembl chr10:132,397,168...132,417,859
JBrowse link
G RAB2A RAB2A, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:60,516,910...60,623,644
Ensembl chr 8:60,516,936...60,623,644
JBrowse link
G RACGAP1 Rac GTPase activating protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136
JBrowse link
G RARRES2 retinoic acid receptor responder 2 treatment ISO RGD PMID:24762064 RGD:15036823 NCBI chr 7:150,338,329...150,341,629
Ensembl chr 7:150,338,317...150,341,662
JBrowse link
G RASL10B RAS like family 10 member B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:35,731,639...35,743,521
Ensembl chr17:35,731,639...35,743,521
JBrowse link
G RBP4 retinol binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17456573 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G REXO1 RNA exonuclease 1 homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:1,815,248...1,848,483
Ensembl chr19:1,815,248...1,848,483
JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:143,364,255...143,384,221
Ensembl chr 8:143,368,876...143,384,221
JBrowse link
G RP2 RP2 activator of ARL3 GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358
JBrowse link
G RPL37A ribosomal protein L37a EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:216,498,844...216,504,086
Ensembl chr 2:216,498,825...216,579,180
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G RUNX3 RUNX family transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G S100A7A S100 calcium binding protein A7A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:153,416,520...153,423,222
Ensembl chr 1:153,416,520...153,423,222
JBrowse link
G S100P S100 calcium binding protein P EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 4:6,693,878...6,697,170
Ensembl chr 4:6,693,878...6,697,170
JBrowse link
G SAP30L SAP30 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 5:154,445,997...154,461,053
Ensembl chr 5:154,445,997...154,461,053
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCT secretin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:626,309...627,181
Ensembl chr11:626,309...627,181
JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:plasma: RGD PMID:19375763 RGD:13208505 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SFTPC surfactant protein C EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor ISO protein:increased expression:ovary RGD PMID:21910062 RGD:9999396 NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
JBrowse link
G SOX15 SRY-box transcription factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:7,588,178...7,590,094
Ensembl chr17:7,588,178...7,590,094
JBrowse link
G SPATA21 spermatogenesis associated 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:16,395,677...16,437,842
Ensembl chr 1:16,387,117...16,437,424
JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 PMID:22381227 NCBI chr 5:6,633,440...6,674,386
Ensembl chr 5:6,633,427...6,674,386
JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:23,964,347...23,980,327
Ensembl chr 1:23,964,347...23,980,927
JBrowse link
G STAR steroidogenic acute regulatory protein ISO
EXP
protein:increased expression:ovary (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21262361 PMID:19698287 RGD:4145934 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992
JBrowse link
G TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:39,399,780...39,437,132
Ensembl chr22:39,399,778...39,437,060
JBrowse link
G TBX1 T-box transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TCF15 transcription factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:604,257...610,309
Ensembl chr20:604,257...610,309
JBrowse link
G TEAD2 TEA domain transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:49,340,595...49,362,416
Ensembl chr19:49,340,595...49,362,457
JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
JBrowse link
G TH tyrosine hydroxylase ISO mRNA,protein:increased expression:ovary (rat) RGD PMID:15795180 RGD:5508374 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
JBrowse link
G THAP3 THAP domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:6,624,868...6,635,595
Ensembl chr 1:6,624,868...6,635,586
JBrowse link
G TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 2:191,949,046...192,194,933
Ensembl chr 2:191,949,043...192,194,933
JBrowse link
G TMEM151A transmembrane protein 151A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664
JBrowse link
G TMEM151B transmembrane protein 151B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:44,270,450...44,279,444
Ensembl chr 6:44,270,450...44,307,506
JBrowse link
G TMF1 TATA element modulatory factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 3:69,019,827...69,052,333
Ensembl chr 3:69,019,827...69,052,339
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO protein:increased expression:ovary follicle, granulosa cell RGD PMID:17641850 RGD:2312746 NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475
JBrowse link
G TNPO2 transportin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011
JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808
JBrowse link
G TONSL tonsoku like, DNA repair protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TOP2A DNA topoisomerase II alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896
JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
JBrowse link
G TTK TTK protein kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 6:80,004,649...80,042,527
Ensembl chr 6:80,003,887...80,042,527
JBrowse link
G TTLL9 tubulin tyrosine ligase like 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr20:31,870,634...31,945,000
Ensembl chr20:31,870,634...31,945,000
JBrowse link
G UBE2H ubiquitin conjugating enzyme E2 H EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:129,830,732...129,952,960
Ensembl chr 7:129,830,732...129,952,960
JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:polymorphism,haplotype: :rs731236(human) RGD PMID:24078159 RGD:13210783 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:serum: RGD PMID:15653207 RGD:8549491 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G ZMYM5 zinc finger MYM-type containing 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr13:19,823,482...19,863,649
Ensembl chr13:19,823,482...19,863,649
JBrowse link
G ZNF205 zinc finger protein 205 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:3,112,586...3,120,517
Ensembl chr16:3,112,560...3,120,517
JBrowse link
G ZNF430 zinc finger protein 430 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:21,020,657...21,060,050
Ensembl chr19:21,020,634...21,060,050
JBrowse link
G ZSWIM9 zinc finger SWIM-type containing 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr19:48,170,680...48,197,620
Ensembl chr19:48,170,680...48,197,620
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22315
    syndrome 11661
      polycystic ovary syndrome 180
        Fowler Christmas Chapple Syndrome 0
        Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 22315
    disease of anatomical entity 20855
      Urogenital Diseases 5283
        Female Urogenital Diseases and Pregnancy Complications 2426
          Female Urogenital Diseases 2010
            female reproductive system disease 2006
              Adnexal Diseases 876
                ovarian disease 867
                  ovarian dysfunction 193
                    polycystic ovary syndrome 180
                      Fowler Christmas Chapple Syndrome 0
                      Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 0
paths to the root