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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AGTR2
angiotensin II receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
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ANG
angiogenin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr29:21,215,985...21,226,927
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ATP6V0D2
ATPase H+ transporting V0 subunit d2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 8:81,280,642...81,336,945
Ensembl chr 8:81,280,888...81,337,106
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C1QB
complement C1q B chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr20:110,003,036...110,011,317
Ensembl chr20:110,002,864...110,011,316
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CACNB3
calcium voltage-gated channel auxiliary subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr11:45,056,116...45,071,076
Ensembl chr11:45,061,046...45,071,544
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CDH3
cadherin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 5:58,717,600...58,775,033
Ensembl chr 5:58,717,597...58,775,339
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CFD
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 6:608,821...612,382
Ensembl chr 6:608,800...613,498
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COL11A1
collagen type XI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645707
NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180
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FGD2
FYVE, RhoGEF and PH domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr17:35,112,453...35,136,161
Ensembl chr17:35,112,815...35,136,017
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GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996
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GKN1
gastrokine 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr14:38,145,076...38,291,187
Ensembl chr14:38,145,559...38,152,126
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GPR34
G protein-coupled receptor 34
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr X:38,887,666...38,897,066
Ensembl chr X:38,895,425...38,896,567
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IARS2
isoleucyl-tRNA synthetase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr25:9,414,316...9,485,542
Ensembl chr25:9,414,711...9,485,429
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IHH
Indian hedgehog signaling molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr10:104,960,296...104,966,596
Ensembl chr10:104,960,120...104,966,585
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LOC103233562
mucosal addressin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 6:222,795...235,198
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MAGOHB
mago homolog B, exon junction complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr11:10,406,698...10,414,504
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MFAP2
microfibril associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr20:115,610,590...115,616,983
Ensembl chr20:115,610,808...115,617,506
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MS4A1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 1:13,343,647...13,358,639
Ensembl chr 1:13,345,253...13,358,547
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Ovarian cyst
ClinVar
PMID:8872463 PMID:10564582 PMID:15849733 PMID:15955785 PMID:16216036 PMID:17312306 PMID:17569143 PMID:19419416 PMID:21778331 PMID:24244552 PMID:24362816 PMID:25559809 PMID:25712738 PMID:25741868 PMID:26467025 PMID:26552419 PMID:26845104 PMID:28492532 PMID:29360161 PMID:31615790 PMID:31692600 PMID:31948886 More...
NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
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NFKB1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 7:50,589,494...50,711,472
Ensembl chr 7:50,589,856...50,711,498
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NMT2
N-myristoyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 9:15,081,828...15,145,935
Ensembl chr 9:15,080,787...15,145,899
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NR2F1
nuclear receptor subfamily 2 group F member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 4:87,463,514...87,475,900
Ensembl chr 4:87,466,249...87,475,112
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NXPH2
neurexophilin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr10:24,032,797...24,145,279
Ensembl chr10:24,032,902...24,145,130
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PEX14
peroxisomal biogenesis factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr20:121,152,514...121,309,888
Ensembl chr20:121,152,498...121,309,919
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr13:88,856,056...90,329,379
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PTGER4
prostaglandin E receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 4:39,440,697...39,453,983
Ensembl chr 4:39,440,276...39,454,004
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315
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RPL5
ribosomal protein L5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr20:40,416,553...40,427,027
Ensembl chr20:40,413,897...40,427,060
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SFRP4
secreted frizzled related protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr21:20,601,281...20,611,273
Ensembl chr21:20,601,396...20,612,138
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SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
susceptibility
ISO
RGD
PMID:29684361
RGD:155804292
NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784
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TIMD4
T cell immunoglobulin and mucin domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr23:59,320,120...59,381,965
Ensembl chr23:59,319,749...59,355,100
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TMBIM4
transmembrane BAX inhibitor motif containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr11:61,817,688...61,850,747
Ensembl chr11:61,815,738...61,850,716
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TMEM59L
transmembrane protein 59 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 6:17,080,955...17,093,524
Ensembl chr 6:17,080,093...17,093,574
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TMOD1
tropomodulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr12:41,808,594...41,899,713
Ensembl chr12:41,811,036...41,877,357
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VHL
von Hippel-Lindau tumor suppressor
susceptibility
ISO
RGD
PMID:29684361
RGD:155804292
NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428
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ABCB6
ATP binding cassette subfamily B member 6 (LAN blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr10:105,113,729...105,122,948
Ensembl chr10:105,112,797...105,122,358
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ADAMTS7
ADAM metallopeptidase with thrombospondin type 1 motif 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
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ADARB1
adenosine deaminase RNA specific B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:88,780,954...88,915,672
Ensembl chr 2:88,833,707...88,918,066
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ADGRD2
adhesion G protein-coupled receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:13,669,619...13,693,409
Ensembl chr12:13,670,885...13,692,633
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:16868149
RGD:8694433
NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391
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ADM
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33491863
NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686
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ADRA1A
adrenoceptor alpha 1A
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr 8:24,884,187...24,985,824
Ensembl chr 8:24,885,741...24,983,125
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ADRA1B
adrenoceptor alpha 1B
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr23:62,281,500...62,338,290
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ADRA1D
adrenoceptor alpha 1D
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr 2:34,859,651...34,888,684
Ensembl chr 2:34,860,483...34,887,779
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ADRB2
adrenoceptor beta 2
ISO
mRNA,protein:decreased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401
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ADRB3
adrenoceptor beta 3
ISO
mRNA:increased expression:gastrointestinal system mesentery, adipose tissue
RGD
PMID:19158405
RGD:2313167
NCBI chr 8:35,993,553...35,998,200
Ensembl chr 8:35,994,775...35,997,060
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AKT2
AKT serine/threonine kinase 2
ISO
OMIM:184700
MouseDO
NCBI chr 6:34,688,585...34,740,458
Ensembl chr 6:34,690,462...34,720,781
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AMH
anti-Mullerian hormone
ISO
protein:increased expression:serum
RGD
PMID:17224152
RGD:1601181
NCBI chr 6:2,047,756...2,051,073
Ensembl chr 6:2,048,319...2,050,958
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ANLN
anillin actin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr21:22,034,213...22,099,207
Ensembl chr21:22,034,259...22,099,158
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AR
androgen receptor
no_association
ISO
RGD
PMID:15950642
RGD:1578688
NCBI chr X:57,380,587...57,553,613
Ensembl chr X:57,380,611...57,546,776
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ARHGAP23
Rho GTPase activating protein 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:67,680,015...67,772,050
Ensembl chr16:67,680,018...67,732,938
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ARHGAP30
Rho GTPase activating protein 30
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:2,922,593...2,942,563
Ensembl chr20:2,922,935...2,941,817
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ASPM
assembly factor for spindle microtubules
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr25:32,269,518...32,334,617
Ensembl chr25:32,281,424...32,334,977
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ATF1
activating transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr11:46,992,068...47,049,142
Ensembl chr11:47,003,621...47,049,381
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ATP5F1B
ATP synthase F1 subunit beta
ISO
mRNA, protein:decreased expression:pancreas (rat)
RGD
PMID:28397049
RGD:13703107
NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr28:13,104,262...13,120,329
Ensembl chr28:13,104,323...13,120,363
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BAX
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21062263
NCBI chr 6:42,186,028...42,193,105
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BBOF1
basal body orientation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr24:51,234,618...51,279,537
Ensembl chr24:51,234,663...51,280,595
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BCL11A
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:46,453,102...46,553,802
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:ovary
CTD RGD
PMID:21062263
RGD:10054496
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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BLOC1S3
biogenesis of lysosomal organelles complex 1 subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:38,623,639...38,642,217
Ensembl chr 6:38,639,659...38,640,261
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BMP15
bone morphogenetic protein 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22825968
NCBI chr X:47,713,434...47,722,818
Ensembl chr X:47,713,957...47,719,777
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CAMK2D
calcium/calmodulin dependent protein kinase II delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:61,240,584...61,552,562
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CAPN10
calpain 10
ISO
ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to
ClinVar
PMID:11017071 PMID:11481585 PMID:12161543 PMID:14574648 PMID:14602801
NCBI chr10:126,613,722...126,626,388
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CARMIL3
capping protein regulator and myosin 1 linker 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr24:1,034,790...1,053,169
Ensembl chr24:1,035,947...1,052,844
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CCNB1
cyclin B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085
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CCNE2
cyclin E2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:89,846,670...89,863,432
Ensembl chr 8:89,848,077...89,862,037
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CD36
CD36 molecule (CD36 blood group)
ISO
protein:decreased expression:cardiac muscle cell
RGD
PMID:25702158
RGD:11041149
NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669
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CDC6
cell division cycle 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:65,873,341...65,888,180
Ensembl chr16:65,871,627...65,888,217
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CDH15
cadherin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:74,542,174...74,563,753
Ensembl chr 5:74,550,637...74,563,850
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CEP55
centrosomal protein 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 9:86,746,658...86,772,052
Ensembl chr 9:86,749,730...86,771,115
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CIMAP1B
ciliary microtubule associated protein 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr19:33,001,537...33,004,063
Ensembl chr19:33,001,954...33,003,852
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CKS2
CDC28 protein kinase regulatory subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:99,806,749...99,812,202
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CLDN4
claudin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr28:9,242,054...9,244,972
Ensembl chr28:9,242,909...9,243,538
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CMTR2
cap methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:54,428,889...54,435,770
Ensembl chr 5:54,430,197...54,432,509
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CNTROB
centrobin, centriole duplication and spindle assembly protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:7,320,557...7,337,746
Ensembl chr16:7,320,586...7,338,369
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COMT
catechol-O-methyltransferase
ISO
protein:increased expression:ovary
RGD
PMID:17535988
RGD:2289711
NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
protein:increased activity:ovary follicle, theca cell (human)
RGD
PMID:11739466
RGD:4888511
NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expresssion:ovary DNA:missense mutation:cds:p.A264C (rs700519) (human)
CTD RGD
PMID:8265607 PMID:9177373 PMID:21262361 PMID:21282199 PMID:22381227 PMID:23183180 PMID:23598873 More...
RGD:7257710 RGD:7257717 RGD:7257726
NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
RGD
PMID:18339256
RGD:11576309
NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384
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DACT3
dishevelled binding antagonist of beta catenin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:40,003,475...40,016,690
Ensembl chr 6:40,004,348...40,016,621
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DCBLD2
discoidin, CUB and LCCL domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr22:81,974,031...82,065,697
Ensembl chr22:81,974,141...82,062,160
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DDX54
DEAD-box helicase 54
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr11:108,407,623...108,437,188
Ensembl chr11:108,404,719...108,437,168
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DLG4
discs large MAGUK scaffold protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867
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DMD
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr X:29,543,003...32,218,011
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ELAVL3
ELAV like RNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:10,378,651...10,405,198
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EMSY
EMSY transcriptional repressor, BRCA2 interacting
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:67,657,747...67,762,157
Ensembl chr 1:67,657,753...67,760,610
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ERRFI1
ERBB receptor feedback inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:123,738,971...123,753,575
Ensembl chr20:123,738,973...123,755,809
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FBXO44
F-box protein 44
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:120,128,422...120,137,081
Ensembl chr20:120,127,750...120,136,395
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FGF18
fibroblast growth factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr23:73,584,223...73,620,881
Ensembl chr23:73,584,766...73,620,069
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FLT4
fms related receptor tyrosine kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044
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FOXP3
forkhead box P3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr X:46,349,890...46,365,133
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FSHR
follicle stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22885925
NCBI chr14:58,013,405...58,211,528
Ensembl chr14:58,013,742...58,212,755
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FST
follistatin
ISO
DNA:polymorphism
RGD
PMID:10411917
RGD:1601259
NCBI chr 4:49,773,646...49,780,343
Ensembl chr 4:49,773,980...49,780,333
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FUT7
fucosyltransferase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:1,158,353...1,160,913
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GAB1
GRB2 associated binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:90,197,374...90,323,024
Ensembl chr 7:90,197,620...90,322,077
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GDF9
growth differentiation factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22825968
NCBI chr23:35,678,956...35,684,378
Ensembl chr23:35,679,368...35,682,338
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GIP
gastric inhibitory polypeptide
ISO
associated with Obesity; protein:increased expression:plasma (human)
RGD
PMID:19375579
RGD:2312588
NCBI chr16:69,367,030...69,377,563
Ensembl chr16:69,367,207...69,377,155
G
GP1BB
glycoprotein Ib platelet subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr19:6,020,618...6,021,646
G
GPX3
glutathione peroxidase 3
treatment
ISO
RGD
PMID:35663203
RGD:401827905
NCBI chr23:53,576,950...53,585,321
G
HACD1
3-hydroxyacyl-CoA dehydratase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 9:17,537,945...17,565,831
Ensembl chr 9:17,536,611...17,565,383
G
HELLS
helicase, lymphoid specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 9:87,780,897...87,835,087
Ensembl chr 9:87,796,502...87,834,619
G
HOOK3
hook microtubule tethering protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:40,897,108...41,023,068
Ensembl chr 8:40,897,209...41,021,808
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HSD17B7
hydroxysteroid 17-beta dehydrogenase 7
ISO
mRNA:decreased expression:ovarian cortex (rat)
RGD
PMID:25887459
RGD:10402205
NCBI chr20:1,271,259...1,289,232
Ensembl chr20:1,273,052...1,288,930
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IGF1
insulin like growth factor 1
ISO
protein:increased expression:serum:
RGD
PMID:15653207
RGD:8549491
NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
G
IL34
interleukin 34
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:53,731,330...53,802,142
Ensembl chr 5:53,731,379...53,801,650
G
INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2777199 PMID:11889176 PMID:16123091
NCBI chr 1:1,965,128...1,969,090
G
IQCC
IQ motif containing C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:100,663,038...100,665,984
Ensembl chr20:100,663,344...100,665,779
G
ISYNA1
inositol-3-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:16,906,724...16,910,194
Ensembl chr 6:16,905,472...16,910,030
G
KICS2
KICSTOR subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr11:59,819,559...59,918,673
Ensembl chr11:59,890,802...59,918,611
G
KRT3
keratin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr11:48,920,531...48,930,166
Ensembl chr11:48,921,725...48,927,801
G
LARP4
La ribonucleoprotein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr11:46,647,743...46,704,546
Ensembl chr11:46,652,248...46,704,549
G
LEP
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22381227
NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220
G
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11889176 PMID:20378617
NCBI chr 6:42,247,254...42,248,822
G
LIF
LIF interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr19:13,121,261...13,127,663
Ensembl chr19:13,121,297...13,127,679
G
LIFR
LIF receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:37,307,753...37,385,489
Ensembl chr 4:37,314,347...37,362,137
G
LMNA
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780
G
LOC103234279
zinc finger protein 430
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:18,947,623...18,987,924
G
LOC103243509
neuroendocrine secretory protein 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192
G
LOC103244927
hyaluronan mediated motility receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr23:65,732,343...65,765,511
Ensembl chr23:65,732,553...65,765,511
G
LPCAT2
lysophosphatidylcholine acyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:41,293,191...41,369,443
Ensembl chr 5:41,294,580...41,372,825
G
LRATD1
LRAT domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:93,016,709...93,022,670
Ensembl chr14:93,020,404...93,021,282
G
LSM5
LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr21:25,921,288...25,925,237
G
LTK
leukocyte receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr26:41,489,867...41,502,314
Ensembl chr26:41,490,902...41,501,956
G
MAD2L1
mitotic arrest deficient 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:67,351,785...67,360,244
G
MANEA
mannosidase endo-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr13:20,496,677...20,529,201
Ensembl chr13:20,496,686...20,530,819
G
MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:1,616,672...1,679,350
Ensembl chr 5:1,616,668...1,677,721
G
MAPRE3
microtubule associated protein RP/EB family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:80,598,660...80,610,519
Ensembl chr14:80,598,029...80,656,243
G
MGAT5B
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:44,749,872...44,830,442
Ensembl chr16:44,749,207...44,830,145
G
MMP2
matrix metallopeptidase 2
ISO
protein:decreased expression:ovary
RGD
PMID:21910062
RGD:9999396
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
G
MORN1
MORN repeat containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:129,163,876...129,231,520
Ensembl chr20:129,169,893...129,231,604
G
MTNR1B
melatonin receptor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20207350
NCBI chr 1:84,222,150...84,238,850
Ensembl chr 1:84,223,147...84,235,463
G
MYBL1
MYB proto-oncogene like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:62,440,620...62,489,148
Ensembl chr 8:62,442,204...62,478,819
G
NCOA2
nuclear receptor coactivator 2
ISO
RGD
PMID:29535146
RGD:152985548
NCBI chr 8:65,855,232...66,151,733
Ensembl chr 8:65,855,235...66,040,947
G
NCOA4
nuclear receptor coactivator 4
ISO
protein:increased expression:endometrium
RGD
PMID:16580389
RGD:2293533
NCBI chr 9:41,813,018...41,836,974
Ensembl chr 9:41,826,320...41,837,505
G
NCOR1
nuclear receptor corepressor 1
ISO
mRNA:increased expression:ovary (rat)
RGD
PMID:22349439
RGD:5688285
NCBI chr16:15,442,315...15,629,411
Ensembl chr16:15,462,640...15,628,512
G
NGFR
nerve growth factor receptor
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189
G
NMNAT3
nicotinamide nucleotide adenylyltransferase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr15:50,880,146...50,990,958
Ensembl chr15:50,880,235...50,991,281
G
NOP53
NOP53 ribosome biogenesis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:41,058,199...41,070,220
Ensembl chr 6:41,057,906...41,071,202
G
NPB
neuropeptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:73,774,767...73,776,311
Ensembl chr16:73,775,695...73,776,149
G
NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
mRNA:increased expression:ovary
RGD
PMID:22176470
RGD:7174741
NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125
G
NR3C2
nuclear receptor subfamily 3 group C member 2
treatment
ISO
RGD
PMID:31925474
RGD:401976287
NCBI chr 7:94,574,010...94,935,348
G
NRG1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:29,745,984...30,862,140
Ensembl chr 8:30,635,803...30,856,487
G
PBK
PDZ binding kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:25,921,124...25,943,349
Ensembl chr 8:25,921,133...25,943,062
G
PDE3B
phosphodiesterase 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:50,050,168...50,254,797
Ensembl chr 1:50,047,477...50,254,807
G
PDLIM4
PDZ and LIM domain 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr23:35,087,966...35,102,703
Ensembl chr23:35,088,001...35,105,018
G
PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:serum (human)
RGD
PMID:22456311
RGD:6767304
NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999
G
PGR
progesterone receptor
ISO
protein:decreased expression:ovary:
RGD
PMID:19698287
RGD:4145934
NCBI chr 1:92,420,970...92,519,128
Ensembl chr 1:92,430,453...92,517,296
G
PLEKHG5
pleckstrin homology and RhoGEF domain containing G5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:125,223,074...125,276,115
Ensembl chr20:125,244,593...125,275,676
G
PNPLA2
patatin like phospholipase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:626,060...631,556
G
PRKD2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:40,028,214...40,071,523
Ensembl chr 6:40,027,552...40,071,455
G
PTAFR
platelet activating factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:104,627,591...104,658,840
Ensembl chr20:104,657,179...104,658,207
G
PTCRA
pre T cell antigen receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr17:29,229,095...29,237,665
G
PTGER3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:62,093,830...62,293,360
Ensembl chr20:62,095,458...62,174,959
G
PWWP2B
PWWP domain containing 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 9:124,984,851...125,012,202
Ensembl chr 9:124,988,407...124,997,532
G
RAB2A
RAB2A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:56,439,021...56,542,059
Ensembl chr 8:56,438,780...56,540,827
G
RACGAP1
Rac GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr11:46,218,987...46,260,477
Ensembl chr11:46,220,090...46,254,602
G
RARRES2
retinoic acid receptor responder 2
treatment
ISO
RGD
PMID:24762064
RGD:15036823
NCBI chr21:118,487,199...118,490,561
Ensembl chr21:118,487,506...118,489,516
G
RASL10B
RAS like family 10 member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:29,206,835...29,219,420
Ensembl chr16:29,210,786...29,219,408
G
RBP4
retinol binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17456573
NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250
G
REXO1
RNA exonuclease 1 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:1,605,913...1,638,819
Ensembl chr 6:1,604,929...1,638,468
G
RHPN1
rhophilin Rho GTPase binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:137,591,656...137,604,616
Ensembl chr 8:137,591,673...137,604,452
G
RP2
RP2 activator of ARL3 GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr X:44,048,319...44,090,011
Ensembl chr X:44,048,317...44,089,988
G
RPL37A
ribosomal protein L37a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr10:102,335,800...102,338,486
G
RRM2
ribonucleotide reductase regulatory subunit M2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:97,512,690...97,519,734
Ensembl chr14:97,512,832...97,521,932
G
RUNX3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307
G
S100P
S100 calcium binding protein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr27:42,812,589...42,816,708
Ensembl chr27:42,813,202...42,816,582
G
SAP30L
SAP30 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr23:56,900,806...56,916,238
Ensembl chr23:56,900,843...56,916,259
G
SCNN1A
sodium channel epithelial 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr11:6,384,073...6,418,620
Ensembl chr11:6,383,956...6,416,337
G
SCT
secretin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:444,487...445,535
Ensembl chr 1:444,601...445,339
G
SERPINE1
serpin family E member 1
ISO
protein:increased expression:plasma:
RGD
PMID:19375763
RGD:13208505
NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
G
SFTPC
surfactant protein C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:20,229,756...20,233,568
Ensembl chr 8:20,230,870...20,234,020
G
SLPI
secretory leukocyte peptidase inhibitor
ISO
protein:increased expression:ovary
RGD
PMID:21910062
RGD:9999396
NCBI chr 2:18,579,549...18,581,897
Ensembl chr 2:18,579,515...18,582,076
G
SOX15
SRY-box transcription factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:6,965,969...6,967,975
Ensembl chr16:6,962,350...6,967,799
G
SPATA21
spermatogenesis associated 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:115,889,975...115,933,026
Ensembl chr20:115,891,903...115,929,898
G
SPTBN4
spectrin beta, non-erythrocytic 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:34,926,413...35,036,611
Ensembl chr 6:34,930,519...35,035,719
G
SRD5A1
steroid 5 alpha-reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543 PMID:22381227
NCBI chr 4:6,312,770...6,348,449
Ensembl chr 4:6,312,757...6,350,550
G
SRSF10
serine and arginine rich splicing factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:108,713,392...108,728,908
Ensembl chr20:108,721,666...108,722,522
G
STAR
steroidogenic acute regulatory protein
ISO
protein:increased expression:ovary (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19698287 PMID:21262361
RGD:4145934
NCBI chr 8:36,164,891...36,174,424
Ensembl chr 8:36,167,694...36,174,583
G
TAB1
TGF-beta activated kinase 1 (MAP3K7) binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr19:21,971,362...22,004,289
G
TBX1
T-box transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244
G
TCF15
transcription factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:55,909,945...55,916,186
Ensembl chr 2:55,910,030...55,915,600
G
TEAD2
TEA domain transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:42,522,684...42,545,581
Ensembl chr 6:42,523,405...42,543,402
G
TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584
G
TH
tyrosine hydroxylase
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218
G
THAP3
THAP domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr20:125,112,772...125,121,578
Ensembl chr20:125,114,104...125,120,955
G
TMEFF2
transmembrane protein with EGF like and two follistatin like domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr10:77,491,041...77,735,890
Ensembl chr10:77,490,095...77,735,849
G
TMEM151A
transmembrane protein 151A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:7,970,012...7,974,954
Ensembl chr 1:7,971,134...7,974,764
G
TMEM151B
transmembrane protein 151B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr17:27,888,790...27,897,357
Ensembl chr17:27,887,496...27,895,031
G
TMF1
TATA element modulatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr22:30,048,269...30,078,600
Ensembl chr22:30,045,685...30,078,414
G
TNFSF10
TNF superfamily member 10
ISO
protein:increased expression:ovary follicle, granulosa cell
RGD
PMID:17641850
RGD:2312746
NCBI chr15:16,934,982...16,953,155
Ensembl chr15:16,934,962...16,954,860
G
TNPO2
transportin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:11,387,993...11,414,681
Ensembl chr 6:11,387,683...11,414,709
G
TNRC6B
trinucleotide repeat containing adaptor 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr19:22,823,447...22,907,942
Ensembl chr19:22,823,937...22,898,476
G
TONSL
tonsoku like, DNA repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:138,641,514...138,657,429
Ensembl chr 8:138,641,575...138,656,673
G
TOP2A
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701
G
TRPV6
transient receptor potential cation channel subfamily V member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr21:111,750,821...111,766,274
Ensembl chr21:111,750,945...111,765,450
G
TTK
TTK protein kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr13:4,738,849...4,779,563
Ensembl chr13:4,738,959...4,780,627
G
TTLL9
tubulin tyrosine ligase like 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:36,259,106...36,340,711
Ensembl chr 2:36,268,132...36,332,618
G
UBE2H
ubiquitin conjugating enzyme E2 H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr21:98,456,848...98,574,105
Ensembl chr21:98,456,118...98,574,120
G
VDR
vitamin D receptor
susceptibility
ISO
DNA:polymorphism,haplotype: :rs731236(human)
RGD
PMID:24078159
RGD:13210783
NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684
G
VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:serum:
RGD
PMID:15653207
RGD:8549491
NCBI chr17:28,377,959...28,394,508
G
ZMYM5
zinc finger MYM-type containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:1,091,376...1,133,664
Ensembl chr 3:1,102,694...1,132,641
G
ZNF205
zinc finger protein 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:2,827,888...2,844,569
Ensembl chr 5:2,837,617...2,844,383
G
ZSWIM9
zinc finger SWIM-type containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:41,405,448...41,431,031
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all