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.
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Foxl2
forkhead box L2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
CTD ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:31048069 More...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Akr1c1
aldo-keto reductase family 1, member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22381227
NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcl2
BCL2, apoptosis regulator
IEP ISO
protein:increased expression:ovary CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21062263 PMID:21062263
RGD:10054496
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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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
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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
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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
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Capn10
calpain 10
ISO
DNA:SNPs ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to
ClinVar RGD
PMID:11017071 PMID:11481585 PMID:12161543 PMID:14574648 PMID:14602801 PMID:17106059 More...
RGD:1625046
NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
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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
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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
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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
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Cd36
CD36 molecule
IDA
protein:decreased expression:cardiac muscle cell
RGD
PMID:25702158
RGD:11041149
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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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
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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
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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
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Cimap1b
ciliary microtubule associated protein 1B
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
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Cks2
CDC28 protein kinase regulatory subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr17:13,570,611...13,575,770
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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
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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
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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
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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
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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
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
susceptibility
ISO IEP IMP
DNA:missense mutation:cds:p.A264C (rs700519) (human) mRNA, protein:decreased expresssion:ovary CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8265607 PMID:9177373 PMID:21262361 PMID:22381227 PMID:21282199 PMID:23598873 PMID:23183180 More...
RGD:7257710 , RGD:7257717 , RGD:7257726
NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Hook3
hook microtubule-tethering protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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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
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Hsd3b1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
IEP ISO
protein:increased expression:ovary (rat) protein:increased activity:ovary follicle, theca cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22381227 PMID:19698287 PMID:11739466
RGD:4145934 , RGD:4888511
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
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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
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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
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Ighg1
immunoglobulin heavy constant gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
Ensembl chr 6:132,389,370...132,393,397
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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
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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
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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
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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
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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
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Larp4
La ribonucleoprotein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:131,104,470...131,152,692
Ensembl chr 7:131,101,564...131,150,811
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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
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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
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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
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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
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Mir222
microRNA 222
treatment
ISO IMP
RNA:increased expression:blood
RGD
PMID:33230470 PMID:33230470
RGD:151893462 , RGD:151893462
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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
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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
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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
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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
G
Ncoa2
nuclear receptor coactivator 2
IDA
RGD
PMID:29535146
RGD:152985548
NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451
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
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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
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
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
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
G
Npb
neuropeptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr10:105,883,992...105,887,689
Ensembl chr10:105,874,708...105,887,254
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
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
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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
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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
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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
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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
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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
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
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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
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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
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
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
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
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
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
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
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
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
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
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
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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
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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
G
Rpl37a
ribosomal protein L37A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 9:74,298,861...74,300,926
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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
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
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
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
G
Tmem151b
transmembrane protein 151B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 9:15,456,746...15,464,287
Ensembl chr 9:15,455,801...15,464,302
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Eif2b2
eukaryotic translation initiation factor 2B subunit beta
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:29706645
NCBI chr 6:104,866,926...104,873,351
Ensembl chr 6:104,866,753...104,873,353
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
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
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
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
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
G
Stag3
STAG3 cohesin complex component
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
G
Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:25741868 PMID:30924587 PMID:35801529 PMID:36856110
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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