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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:ovarian dysfunction
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Accession:DOID:1414 term browser browse the term
Definition:An ovarian disease that is characterized by irregular or absent ovulation. (DO)
Synonyms:primary_id: RDO:9003781
 xref: ICD9CM:256.3
For additional species annotation, visit the Alliance of Genome Resources.



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Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
JBrowse link
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...90,744,331
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 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 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...8,909,184
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 BAF chromatin remodeling complex subunit BCL11A 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 JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 1:79,155,914...79,158,326
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 RGD PMID:17106059 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 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 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
IMP
IEP
DNA:missense mutation:cds:p.A264C (rs700519) (human)
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expresssion:ovary
CTD
RGD
PMID:8265607 PMID:9177373 PMID:21262361 PMID:22381227 PMID:21282199 More... RGD:7257710, RGD:7257726, RGD:7257717 NCBI chr 8:54,553,165...54,580,758
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 chr11:42,125,787...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 chr10:80,968,410...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 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 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)
CTD Direct Evidence: marker/mechanism
protein:increased activity:ovary follicle, theca cell (human)
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...141,962,143
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 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...40,218,534
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 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 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 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 Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21411543 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
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 8:6,073,216...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 9:14,218,366...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 5:21,676,219...21,738,833
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...9,173,454
Ensembl chr 7:9,154,061...9,173,454
JBrowse link
G RGD1564865 similar to 20-alpha-hydroxysteroid dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381227 NCBI chr17:65,847,580...65,881,488
Ensembl chr17:65,835,634...65,881,488
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:1,872,581...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
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 5:147,393,926...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 chr10:41,980,151...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 1:196,382,941...196,383,635
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 chr10:54,373,602...54,376,591
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 5:148,088,765...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 9:50,445,550...50,733,482
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...202,392,243
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 9:15,456,746...15,464,287 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 chr10:83,946,186...83,975,694
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 chr10:12,615,470...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
premature menopause term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 IEP mRNA:increased expression:liver, jejunum (rat) RGD PMID:24619822 RGD:19165129 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 IEP mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cideb cell death-inducing DFFA-like effector b IEP mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr15:29,252,203...29,256,759
Ensembl chr15:29,252,213...29,256,605
JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 IEP mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 IEP mRNA:decreased:expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
JBrowse link
G Fgf10 fibroblast growth factor 10 treatment ISO RGD PMID:27679811 RGD:126928135 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25741868 PMID:32403198 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IEP mRNA:decreased expression:liver (rat) RGD PMID:25263431 PMID:24619822 RGD:15045610, RGD:19165129 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 IEP mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 IEP mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : RGD PMID:15351195 RGD:8694175 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Premature menopause ClinVar PMID:21537932 PMID:22538716 PMID:23117857 PMID:25186627 PMID:25318351 More... NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
JBrowse link
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by term: Premature menopause ClinVar PMID:25741868 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      endocrine system disease 5833
        gonadal disease 1031
          ovarian disease 795
            ovarian dysfunction 184
              estrogen excess 0
              polycystic ovary syndrome + 169
              premature menopause + 15
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      Urogenital Diseases 4379
        Female Urogenital Diseases and Pregnancy Complications 2062
          Female Urogenital Diseases 1756
            female reproductive system disease 1752
              Adnexal Diseases 804
                ovarian disease 795
                  ovarian dysfunction 184
                    estrogen excess 0
                    polycystic ovary syndrome + 169
                    premature menopause + 15
paths to the root