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: endometrial disease
Accession: DOID:1005
browse the term
Definition: A uterine disease that is located_in the endometrium. (DO)
Synonyms: exact_synonym: endometrial diseases
xref: NCI:C3504
For additional species annotation, visit the
Alliance of Genome Resources .
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ANGPT1
angiopoietin 1
ISO
protein:increased expression:endometrium epithelium
RGD
PMID:17295646
RGD:2293852
NCBI chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783
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ANGPT2
angiopoietin 2
ISO
protein:increased expression:endometrium epithelium
RGD
PMID:17295646
RGD:2293852
NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
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ARID1A
AT-rich interaction domain 1A
treatment
ISO
human cell in mouse model
RGD
PMID:21900401
RGD:126725086
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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AXIN2
axin 2
ISO
RGD
PMID:11940574
RGD:13432156
NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
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BET1L
Bet1 golgi vesicular membrane trafficking protein like
disease_progression
ISO
RGD
PMID:28654152
RGD:14394612
NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762
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CD55
CD55 molecule (Cromer blood group)
ISO
RGD
PMID:11506079
RGD:2326173
NCBI chr 1:182,923,369...182,962,518
Ensembl chr 1:187,201,081...187,240,350
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EBAG9
estrogen receptor binding site associated antigen 9
ISO
protein:increased expression:endometrium
RGD
PMID:16112719
RGD:2289850
NCBI chr 8:106,190,208...106,216,402
Ensembl chr 8:108,335,590...108,361,475
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FOXO3
forkhead box O3
severity
ISO
associated with Obesity;protein:decreased expression:endometrium (human)
RGD
PMID:26045339
RGD:11530998
NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272
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GPX3
glutathione peroxidase 3
ISO
mRNA:decreased expression:endometrium (rat)
RGD
PMID:19426485
RGD:2312621
NCBI chr 5:146,447,939...146,456,476
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IRF1
interferon regulatory factor 1
ISO
DNA:deletions (rat)
RGD
PMID:19075038
RGD:5128782
NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
no_association
ISO
protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade
RGD
PMID:10684716
RGD:2290482
NCBI chr 1:58,042,794...58,045,536
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KRAS
KRAS proto-oncogene, GTPase
ISO
DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat)
RGD
PMID:10775052
RGD:1600499
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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MAPK1
mitogen-activated protein kinase 1
treatment
ISO
protein:decreased phosphorylation:endometrium (human) human tumor in a mouse model
RGD
PMID:14760076 PMID:23402905
RGD:13703125 RGD:13703137
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MAPK3
mitogen-activated protein kinase 3
treatment
ISO
human tumor in a mouse model protein:decreased phosphorylation:endometrium (human)
RGD
PMID:14760076 PMID:23402905
RGD:13703125 RGD:13703137
Ensembl chr16:30,489,362...30,498,017
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:21478295
RGD:13441595
NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
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PTEN
phosphatase and tensin homolog
ameliorates
ISO
RGD
PMID:32843721
RGD:127285600
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PTGES
prostaglandin E synthase
ISO
protein:increased expression:endometrium
RGD
PMID:11592775
RGD:2300089
NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020
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RRM2
ribonucleotide reductase regulatory subunit M2
ISO
DNA:amplification (rat)
RGD
PMID:15942940
RGD:2324953
NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
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TGFBR3
transforming growth factor beta receptor 3
ISO
mRNA:decreased expression:endometrium
RGD
PMID:15745937
RGD:1579943
NCBI chr 1:94,337,275...94,539,229
Ensembl chr 1:93,080,452...93,285,587
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TP53
tumor protein p53
disease_progression
ISO
DNA:missense mutations protein:increased expression:endometrium
RGD
PMID:1540970
RGD:2290541
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TSG101
tumor susceptibility 101
ISO
mRNA:alternative forms
RGD
PMID:10027311
RGD:2291854
NCBI chr11:18,518,110...18,564,814
Ensembl chr11:18,189,868...18,248,149
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ADRB3
adrenoceptor beta 3
susceptibility
ISO
associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD
PMID:15743038
RGD:2313164
NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949
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AFP
alpha fetoprotein
severity
ISO
protein:increased expression:serum
RGD
PMID:17659325
RGD:2292039
NCBI chr 4:50,739,197...50,758,459
Ensembl chr 4:56,571,519...56,590,391
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AKT2
AKT serine/threonine kinase 2
severity
ISO
DNA:snp:intron:c.287+993G>A (rs892119) (human)
RGD
PMID:22146979
RGD:13432140
NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
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ANG
angiogenin
ISO
protein:increased expression:serum
RGD
PMID:9119882
RGD:2317659
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
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APC
APC regulator of WNT signaling pathway
severity treatment
ISO
protein:increased expression:endometrium (human) DNA:mutations, haplotype:cds:multiple (human) human cells in a mouse model with Pten knockout
RGD
PMID:15951972 PMID:22907428 PMID:23288720 PMID:29876005
RGD:13524585 RGD:13524624 RGD:13673916 RGD:13673917
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human)
RGD
PMID:11465542
RGD:2315878
NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
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AR
androgen receptor
ISO
RGD
PMID:15721279
RGD:1578689
NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357
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ARID1A
AT-rich interaction domain 1A
onset
ISO
protein:decreased expression:endometrium (human)
RGD
PMID:23887303
RGD:126779522
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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ATM
ATM serine/threonine kinase
susceptibility
ISO
RGD
PMID:17164260
RGD:2293868
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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BAD
BCL2 associated agonist of cell death
disease progression
ISO
protein:altered expression:endometrium (human)
RGD
PMID:24645842
RGD:13432164
NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
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BAG1
BAG cochaperone 1
ISO
protein:increased expression:endometrium
RGD
PMID:15297164
RGD:2293886
NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167
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BCL2L1
BCL2 like 1
ISO
protein:increased expression:endometrium
RGD
PMID:17311011
RGD:1643476
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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BRCA2
BRCA2 DNA repair associated
ISO
DNA:deletion, frameshift mutation
RGD
PMID:10451700
RGD:2296027
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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BST2
bone marrow stromal cell antigen 2
treatment
ISO
protein:increased expression:endometrium:
RGD
PMID:22729361 PMID:26498112
RGD:14398492 RGD:14398498
NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728
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CD59
CD59 molecule (CD59 blood group)
ISO
protein:increased expression:endometrium
RGD
PMID:10637067
RGD:2293548
NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157
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CD9
CD9 molecule
ISO
RGD
PMID:11505398
RGD:2326208
NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385
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CDC25B
cell division cycle 25B
ISO
RGD
PMID:14559803
RGD:4105451
NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
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CDC25C
cell division cycle 25C
ISO
DNA:mutation (human)
RGD
PMID:12124347
RGD:4105455
NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698
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CDH1
cadherin 1
ISO
OMIM
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
DNA:deletions:exon (rat)
RGD
PMID:18558284
RGD:2316081
NCBI chr 9:21,803,862...21,831,322
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CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
DNA:deletion (rat)
RGD
PMID:18558284
RGD:2316081
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
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CHI3L1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:17023034
RGD:4892642
NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
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COMT
catechol-O-methyltransferase
susceptibility no_association
ISO
DNA:polymorphism: :p.V158M DNA:hypermethylation:promoter
RGD
PMID:12810635 PMID:15285606 PMID:17442187
RGD:2289714 RGD:2289721 RGD:2289723
NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004)
RGD
PMID:18497059
RGD:2301045
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA)
RGD
PMID:18318428
RGD:2301040
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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CYP1A2
cytochrome P450 family 1 subfamily A member 2
ISO
DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002)
RGD
PMID:18497059
RGD:2301045
NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
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EFEMP2
EGF containing fibulin extracellular matrix protein 2
exacerbates ameliorates
ISO
protein:decreased expression:endometrium (human) human EFEMP2 knockdown cell line in a mouse model
RGD
PMID:28177909
RGD:42722012
NCBI chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950
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EGF
epidermal growth factor
severity
ISO
DNA:snps:5'utr:multiple (human)
RGD
PMID:19319135
RGD:13673915
NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
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FGF1
fibroblast growth factor 1
disease_progression
ISO
mRNA:increased expression:myometrium
RGD
PMID:8685603
RGD:2298516
NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001
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FGF2
fibroblast growth factor 2
disease_progression
ISO
mRNA, protein:increased expression:myometrium
RGD
PMID:8685603
RGD:2298516
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
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GHRH
growth hormone releasing hormone
ISO
mRNA:increased expression:tumor:expression in 17/22 specimens
RGD
PMID:10022420 PMID:15784701
RGD:2289974 RGD:2301423
NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240
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HOXB13
homeobox B13
ISO
RGD
PMID:15756448
RGD:2314730
NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598
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HTRA2
HtrA serine peptidase 2
ISO
protein:decreased expression:endometrium (human)
RGD
PMID:19424634
RGD:5688747
NCBI chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152
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IL10
interleukin 10
ISO
protein:increased expression:serum
RGD
PMID:9119882
RGD:2317659
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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JAK1
Janus kinase 1
severity
ISO
DNA:frameshift mutations
RGD
PMID:29121062
RGD:150524355
NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991
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JUP
junction plakoglobin
ISO
protein:decreased expression:endometrium
RGD
PMID:12635138
RGD:2301747
NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
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LTA
lymphotoxin alpha
susceptibility
ISO
DNA:polymorphism: :252A>G, 804C>A (human)
RGD
PMID:17045328
RGD:2313259
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
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MCPH1
microcephalin 1
ISO
DNA:deletions:exons:multiple (human)
RGD
PMID:20638839
RGD:9589018
NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
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MLH3
mutL homolog 3
ISO
ClinVar Annotator: match by term: Endometrial cancer
OMIM ClinVar
PMID:12702580
NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
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MMP7
matrix metallopeptidase 7
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:17352221
RGD:2298522
NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
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MRE11
MRE11 homolog, double strand break repair nuclease
ISO
DNA:deletions:intron:IVS4_delT (human)
RGD
PMID:15048091
RGD:2317737
NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
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MSH3
mutS homolog 3
ISO
OMIM
NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469
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MSH6
mutS homolog 6
ISO
OMIM
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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MUTYH
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Endometrial cancer, somatic
ClinVar
PMID:11818965 PMID:12606733 PMID:12917422 PMID:15931596 PMID:15987719 PMID:16492921 PMID:16557584 PMID:17489848 PMID:17956577 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19394335 PMID:19620482 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20418187 PMID:20618354 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22926731 PMID:23035301 PMID:23108399 PMID:23361220 PMID:23561487 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24728327 PMID:24953332 PMID:25741868 PMID:25820570 PMID:26202870 PMID:26332594 PMID:26467025 PMID:26822237 PMID:26845104 PMID:27014339 PMID:27829682 PMID:28135145 PMID:28492532 PMID:28634180 PMID:28687356 PMID:28944238 PMID:29766397 PMID:29978187 PMID:30067863 PMID:30306255 PMID:30322717 PMID:30333958 PMID:30604180 PMID:30609409 PMID:30676620 PMID:31263571 PMID:35535697 More...
NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645
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NOTCH1
notch receptor 1
ISO
mRNA:increased expression:endometrium
RGD
PMID:11078798
RGD:2299153
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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NOTCH4
notch receptor 4
ISO
mRNA:decreased expression:endometrium
RGD
PMID:11078798
RGD:2299153
NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
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PGM1
phosphoglucomutase 1
ISO
RGD
PMID:508567
RGD:2299870
NCBI chr 1:62,849,451...62,916,359
Ensembl chr 1:64,658,599...64,725,496
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PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
onset
ISO
mRNA:increased expression:endometrium (human)
RGD
PMID:28002804
RGD:13674181
NCBI chr 3:135,685,120...135,867,096
Ensembl chr 3:143,288,563...143,431,314
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
RGD
PMID:21478295
RGD:13441595
NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:21984976
RGD:13674179
NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
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POLE
DNA polymerase epsilon, catalytic subunit
onset ameliorates disease_progression
ISO
DNA:polymorphisms:multiple (human) DNA:missense mutations:multiple (human) protein:increased expression:endometrium (human) DNA:missense mutations:CDS:p.P286R, p.V411L (human)
RGD
PMID:25224212 PMID:29559562 PMID:29659608 PMID:31866764
RGD:151347644 RGD:151347645 RGD:151347650 RGD:151347857
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
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RNF43
ring finger protein 43
ISO
DNA:mutations:multiple: (human)
RGD
PMID:25344691
RGD:151361224
NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748
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SHBG
sex hormone binding globulin
ISO
DNA:polymorphism:exon:p.D327N (human)
RGD
PMID:17315164
RGD:1625245
NCBI chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552
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SMAD2
SMAD family member 2
ISO
protein:increased expression:endometrium
RGD
PMID:12883738
RGD:2299970
NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
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SMAD3
SMAD family member 3
ISO
protein:increased expression:endometrium
RGD
PMID:12883738
RGD:2299970
NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
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SMAD7
SMAD family member 7
disease_progression
ISO
mRNA:increased expression:endometrium
RGD
PMID:15661223
RGD:2299963
NCBI chr18:42,306,324...42,337,214
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SOCS2
suppressor of cytokine signaling 2
ISO
DNA:hypermethylated
RGD
PMID:15159323
RGD:2298926
NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748
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SPAG9
sperm associated antigen 9
ISO
protein:increased expression:serum:
RGD
PMID:24460345
RGD:30296659
NCBI chr17:45,053,292...45,211,488
Ensembl chr17:49,924,650...50,081,918
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STK11
serine/threonine kinase 11
ISO
RGD
PMID:18245476
RGD:2291944
Ensembl chr19:1,188,537...1,210,677
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SULT1E1
sulfotransferase family 1E member 1
ISO
DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT)
RGD
PMID:18318428
RGD:2301040
NCBI chr 4:54,377,681...54,396,619
Ensembl chr 4:60,713,392...60,733,229
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TFF1
trefoil factor 1
ISO
mRNA, protein:increased expression:endometrium
RGD
PMID:10835496
RGD:2298569
NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
mRNA:decreased expression:endometrium
RGD
PMID:15273280
RGD:2290435
NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum (human)
RGD
PMID:8920779
RGD:5131439
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum (human)
RGD
PMID:8920779
RGD:5131439
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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TYMP
thymidine phosphorylase
ISO
RGD
PMID:18348659
RGD:2293715
NCBI chr22:30,772,088...30,776,618
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WT1
WT1 transcription factor
disease_progression
ISO
RGD
PMID:19443388
RGD:2315542
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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ABCA3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427
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APC
APC regulator of WNT signaling pathway
onset
ISO
DNA:hypermethylation:promoter: (human) ClinVar Annotator: match by term: Endometrial carcinoma
RGD ClinVar
PMID:19900189 PMID:25741868 PMID:28492532
RGD:13524625
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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AREL1
apoptosis resistant E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:12702580 PMID:17656264 PMID:22290698 PMID:28492532
NCBI chr14:55,213,600...55,265,198
Ensembl chr14:74,060,653...74,112,165
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:133608 PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:24728327 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26787654 PMID:26837699 PMID:27443514 PMID:28492532 PMID:29659569 PMID:30651582 PMID:31159747 PMID:31206626 PMID:31920950 PMID:33436325 PMID:33558524 More...
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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AURKA
aurora kinase A
ISO
mRNA, protein:increased expression:endometrium
RGD
PMID:16311121
RGD:2293878
NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
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AURKB
aurora kinase B
disease_progression
ISO
mRNA, protein:increased expression:endometrium
RGD
PMID:16311121
RGD:2293878
NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:28492532
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:7581445 PMID:10667592 PMID:10667595 PMID:12566964 PMID:12955716 PMID:16014699 PMID:16168118 PMID:16267036 PMID:16284991 PMID:16685647 PMID:17924331 PMID:18489799 PMID:18936166 PMID:19147582 PMID:19340607 PMID:20104584 PMID:21520273 PMID:21702907 PMID:21990134 PMID:23161852 PMID:23867111 PMID:25452441 PMID:25637381 PMID:25741868 PMID:25777348 PMID:26467025 PMID:26681312 PMID:28324225 PMID:28492532 PMID:32295079 More...
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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BRCA2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:20104584 PMID:22476429 PMID:22703879 PMID:24448499 PMID:24916970 PMID:25036526 PMID:25348012 PMID:25741868 PMID:26467025 PMID:26689913 PMID:27495310 PMID:27974047 PMID:28492532 PMID:29470806 PMID:30555256 More...
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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BRICD5
BRICHOS domain containing 5
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995
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C11H11orf65
chromosome 11 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25741868 PMID:25980754 PMID:26787654 PMID:26837699 PMID:28492532 PMID:29659569 PMID:30651582 PMID:31159747 PMID:31920950 PMID:33436325 PMID:33558524 More...
NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
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CASKIN1
CASK interacting protein 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,035,826...1,055,005
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CCNB1
cyclin B1
ISO
RGD
PMID:17483252
RGD:2289230
NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332
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CD82
CD82 molecule
disease_progression
ISO
RGD
PMID:12684410
RGD:2289403
NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876
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CDH1
cadherin 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:8075649 PMID:11598162 PMID:11747475 PMID:12588804 PMID:14500541 PMID:15235021 PMID:20233471 PMID:20373070 PMID:20921021 PMID:22470475 PMID:22703879 PMID:23709761 PMID:24728327 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26182300 PMID:26467025 PMID:27616075 PMID:27720647 PMID:27978560 PMID:28125075 PMID:28135145 PMID:28352678 PMID:28492532 PMID:28608266 PMID:28640387 PMID:28961279 PMID:29641532 PMID:29752822 PMID:30287823 PMID:30311375 PMID:31871109 PMID:32566746 PMID:33193653 PMID:33471991 More...
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CDH13
cadherin 13
disease_progression
ISO
DNA:hypomethylation
RGD
PMID:18519763
RGD:2298985
NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996
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CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:25186627 PMID:25741868 PMID:26094658 PMID:26467025 PMID:28492532 PMID:28779002 PMID:30303537 PMID:30374176 PMID:30851065 PMID:32383162 More...
NCBI chr22:9,757,038...9,811,171
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DHFR
dihydrofolate reductase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:25741868
NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003
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DNASE1L2
deoxyribonuclease 1 like 2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391
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E4F1
E4F transcription factor 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695
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ECI1
enoyl-CoA delta isomerase 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,097,165...1,108,726
Ensembl chr16:2,339,864...2,351,385
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:28492532
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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ERAP1
endoplasmic reticulum aminopeptidase 1
disease_progression
ISO
RGD
PMID:15741767
RGD:2315693
NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365
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FGF7
fibroblast growth factor 7
ISO
mRNA:decreased expression:endometrium
RGD
PMID:9070494
RGD:2301091
NCBI chr15:28,378,339...28,442,800
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FGFR2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:7719344 PMID:8651276 PMID:8696350 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 More...
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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GRB2
growth factor receptor bound protein 2
severity
ISO
Shc-Grb2 complex;protein:increased expression:serum (human)
RGD
PMID:22459351
RGD:13441552
NCBI chr17:69,265,307...69,352,835
Ensembl chr17:74,817,471...74,903,796
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GSK3B
glycogen synthase kinase 3 beta
severity
ISO
protein:increased expression:endometrium (human)
RGD
PMID:27050373
RGD:13524565
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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HDAC3
histone deacetylase 3
disease_progression
ISO
RGD
PMID:18714364
RGD:2306205
NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
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HRAS
HRas proto-oncogene, GTPase
disease_progression
ISO
DNA:snps:cds: (human) protein:increased expression:endometrial stroma, cytoplasm (human)
RGD
PMID:8960147 PMID:9641239
RGD:13441555 RGD:13781876
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
disease_progression
ISO
protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027)
RGD
PMID:15800680
RGD:2290481
NCBI chr 1:58,042,794...58,045,536
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KISS1
KiSS-1 metastasis suppressor
disease_progression
ISO
mRNA:decreased expression:endometrium
RGD
PMID:15949424
RGD:2302170
NCBI chr 1:179,792,116...179,800,377
Ensembl chr 1:184,080,570...184,104,815
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16474405 PMID:16618717 PMID:16987887 PMID:17056636 PMID:17384584 PMID:17704260 PMID:17875937 PMID:18316791 PMID:18794081 PMID:18958496 PMID:19018267 PMID:19020799 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:20949621 PMID:21228335 PMID:21686179 PMID:21784453 PMID:21975775 PMID:23014527 PMID:23182985 PMID:23406027 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25359213 PMID:25741868 PMID:28492532 PMID:29493581 PMID:31666701 More...
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LOC100972297
polycystin-1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:604,927...1,697,831
G
LOC100976787
mismatch repair endonuclease PMS2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 PMID:10479499 PMID:10480359 PMID:12208142 PMID:14756672 PMID:15256438 PMID:15304120 PMID:15521988 PMID:15872200 PMID:16144131 PMID:16472587 PMID:16619239 PMID:17139668 PMID:17557300 PMID:18178629 PMID:18268114 PMID:18273873 PMID:18602922 PMID:18768816 PMID:19132747 PMID:19156169 PMID:19479271 PMID:19526325 PMID:20176959 PMID:20186688 PMID:20186689 PMID:20205264 PMID:20487569 PMID:20531397 PMID:20698049 PMID:21204794 PMID:21239990 PMID:21376568 PMID:22577899 PMID:22703879 PMID:22875147 PMID:22941189 PMID:22949387 PMID:23012243 PMID:23017166 PMID:23435383 PMID:23709753 PMID:23981578 PMID:24027009 PMID:24033266 PMID:24055113 PMID:24130102 PMID:24326041 PMID:24362816 PMID:24434690 PMID:24556621 PMID:24689082 PMID:24728327 PMID:24897087 PMID:25006859 PMID:25117502 PMID:25186627 PMID:25194673 PMID:25345868 PMID:25503501 PMID:25559809 PMID:25567908 PMID:25637381 PMID:25741868 PMID:25856668 PMID:25871621 PMID:25938944 PMID:25980754 PMID:25986922 PMID:26110232 PMID:26116798 PMID:26272126 PMID:26318770 PMID:26467025 PMID:26483394 PMID:26681312 PMID:26689913 PMID:26811195 PMID:26845104 PMID:26866578 PMID:26898890 PMID:27001570 PMID:27050224 PMID:27203213 PMID:27379089 PMID:27433846 PMID:27435373 PMID:27476653 PMID:27863258 PMID:27878467 PMID:27930734 PMID:28135145 PMID:28492532 PMID:28528518 PMID:28596308 PMID:28873162 PMID:28975465 PMID:29345684 PMID:29785153 PMID:29887214 PMID:30322717 PMID:30608896 PMID:30651582 PMID:30653781 PMID:30680046 PMID:30702970 PMID:31159747 PMID:31300551 PMID:31327751 PMID:31332305 PMID:31391288 PMID:31433215 PMID:33471991 PMID:34371384 PMID:35535697 More...
NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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LOC100977490
ras-related protein Rab-26
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,006,847...1,012,263
G
MAPK1
mitogen-activated protein kinase 1
severity
ISO
protein:increased phosphorylation:endometrium (human) protein:increased expression:endometrium (human)
RGD
PMID:22459351 PMID:29081408
RGD:13441552 RGD:13702082
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MAPK3
mitogen-activated protein kinase 3
severity
ISO
protein:increased phosphorylation:endometrium (human) protein:increased expression:endometrium (human)
RGD
PMID:22459351 PMID:29081408
RGD:13441552 RGD:13702082
Ensembl chr16:30,489,362...30,498,017
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MLH1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:8566964 PMID:8574961 PMID:8592341 PMID:9526167 PMID:9697702 PMID:9806477 PMID:9833759 PMID:10480359 PMID:10732761 PMID:11112663 PMID:11385712 PMID:11429708 PMID:11601928 PMID:11781295 PMID:11948175 PMID:12112654 PMID:12115348 PMID:12362047 PMID:12373605 PMID:12522551 PMID:12618391 PMID:12810663 PMID:12919140 PMID:15133479 PMID:15300854 PMID:15713769 PMID:15849733 PMID:16341804 PMID:16395668 PMID:16451135 PMID:16830052 PMID:16995940 PMID:17135187 PMID:17192056 PMID:17510385 PMID:18373977 PMID:18383312 PMID:18470917 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18726168 PMID:18772310 PMID:19224586 PMID:19267393 PMID:19698169 PMID:19863800 PMID:20233461 PMID:21056691 PMID:21681552 PMID:22322191 PMID:22703879 PMID:22736432 PMID:22949387 PMID:23329266 PMID:23403630 PMID:24033266 PMID:24055113 PMID:24090359 PMID:24362816 PMID:24728327 PMID:24933000 PMID:25637381 PMID:25741868 PMID:26096739 PMID:26332594 PMID:26467025 PMID:26845104 PMID:27600092 PMID:28135145 PMID:28449805 PMID:28492532 PMID:28874130 PMID:30521064 PMID:31159747 PMID:32849802 More...
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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MLH3
mutL homolog 3
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532
NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
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MLST8
MTOR associated protein, LST8 homolog
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828
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MMP8
matrix metallopeptidase 8
ISO
RGD
PMID:10502722
RGD:2306086
NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736
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MMP9
matrix metallopeptidase 9
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:12487935
RGD:2298523
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:1586275 PMID:7585065 PMID:9536098 PMID:9718327 PMID:12115348 PMID:12362047 PMID:15235034 PMID:15655560 PMID:15862756 PMID:16451135 PMID:17312306 PMID:17440950 PMID:17576681 PMID:18383312 PMID:18772310 PMID:20305446 PMID:23047549 PMID:23729658 PMID:24033266 PMID:25081409 PMID:25479140 PMID:25525159 PMID:25741868 PMID:25964535 PMID:25987035 PMID:26467025 PMID:27449771 PMID:27601186 PMID:28492532 PMID:32849802 More...
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
G
MSH3
mutS homolog 3
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:8782829 PMID:9536098 PMID:11470537 PMID:17576681 PMID:20981092 PMID:25741868 PMID:27476653 PMID:27696107 PMID:28492532 PMID:28944238 PMID:29641532 PMID:31589614 PMID:32634176 PMID:32635641 More...
NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469
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MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:3195077 PMID:8063241 PMID:9536098 PMID:9774676 PMID:10471527 PMID:10508506 PMID:10521294 PMID:10537275 PMID:10612827 PMID:10938287 PMID:11470537 PMID:11641390 PMID:11709755 PMID:11807791 PMID:11900875 PMID:12019211 PMID:12202775 PMID:12658575 PMID:12732731 PMID:14520694 PMID:14871975 PMID:15098177 PMID:15236168 PMID:15340264 PMID:15354210 PMID:15483016 PMID:15782118 PMID:15872200 PMID:16000562 PMID:16010685 PMID:16199547 PMID:16203774 PMID:16270383 PMID:16408224 PMID:16813607 PMID:16885385 PMID:16940983 PMID:17095871 PMID:17117178 PMID:17344846 PMID:17453009 PMID:17531815 PMID:17557300 PMID:17576681 PMID:17594722 PMID:17718861 PMID:18033691 PMID:18269114 PMID:18301448 PMID:18409202 PMID:18415027 PMID:18566915 PMID:18625694 PMID:18790734 PMID:18809606 PMID:19072991 PMID:19130300 PMID:19250818 PMID:19324997 PMID:19389263 PMID:19526325 PMID:19851887 PMID:19924528 PMID:20007843 PMID:20028993 PMID:20176959 PMID:20379851 PMID:20487569 PMID:20531397 PMID:20587412 PMID:20591884 PMID:20682701 PMID:20937110 PMID:21056691 PMID:21081928 PMID:21120944 PMID:21153778 PMID:21155762 PMID:21520333 PMID:21674763 PMID:21836479 PMID:22006311 PMID:22102614 PMID:22290698 PMID:22480969 PMID:22495361 PMID:22703879 PMID:22734033 PMID:22851212 PMID:22949379 PMID:23047549 PMID:23263490 PMID:23359684 PMID:23523604 PMID:23621914 PMID:23652311 PMID:23729658 PMID:23733757 PMID:24033266 PMID:24040339 PMID:24055113 PMID:24072394 PMID:24100870 PMID:24323032 PMID:24362816 PMID:24440087 PMID:24448499 PMID:24549055 PMID:24689082 PMID:24728189 PMID:24728327 PMID:24896128 PMID:24933000 PMID:24933100 PMID:25006859 PMID:25111426 PMID:25117503 PMID:25133505 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25231023 PMID:25318681 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25559809 PMID:25561518 PMID:25637381 PMID:25642631 PMID:25741868 PMID:25751794 PMID:25782445 PMID:25801821 PMID:25848751 PMID:25862369 PMID:25892863 PMID:25954033 PMID:25980754 PMID:26099011 PMID:26206375 PMID:26300997 PMID:26318770 PMID:26332594 PMID:26333163 PMID:26436109 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26530882 PMID:26552419 PMID:26648449 PMID:26681312 PMID:26689913 PMID:26720728 PMID:26787237 PMID:26805314 PMID:26845104 PMID:26888055 PMID:26898890 PMID:26901136 PMID:27028851 PMID:27060149 PMID:27064304 PMID:27273229 PMID:27398995 PMID:27443514 PMID:27449771 PMID:27487738 PMID:27498913 PMID:27601186 PMID:27723366 PMID:27760322 PMID:27920101 PMID:28125075 PMID:28135145 PMID:28152038 PMID:28176205 PMID:28323777 PMID:28369758 PMID:28449805 PMID:28466842 PMID:28481244 PMID:28492532 PMID:28514183 PMID:28528518 PMID:28531214 PMID:28596308 PMID:28640387 PMID:28765196 PMID:28767289 PMID:28873162 PMID:28874130 PMID:28878254 PMID:28912153 PMID:28944238 PMID:29212164 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29575718 PMID:29596542 PMID:29625052 PMID:29659569 PMID:29684080 PMID:29755653 PMID:29887214 PMID:29945567 PMID:29967336 PMID:29978187 PMID:30072391 PMID:30093976 PMID:30225334 PMID:30267214 PMID:30521064 PMID:30612635 PMID:30613976 PMID:30927264 PMID:30982232 PMID:31100584 PMID:31159747 PMID:31297337 PMID:31307542 PMID:31332305 PMID:31360874 PMID:31391288 PMID:31422574 PMID:31422818 PMID:31447099 PMID:31658756 PMID:31666926 PMID:31857677 PMID:31921681 PMID:31965077 PMID:32008151 PMID:32019284 PMID:32042422 PMID:32068069 PMID:32242007 PMID:32547938 PMID:32615015 PMID:32658311 PMID:32661327 PMID:32773772 PMID:32820175 PMID:32980694 PMID:33008098 PMID:33471991 PMID:34445333 More...
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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MUTYH
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:11818965 PMID:12606733 PMID:16140997 PMID:16338133 PMID:16492921 PMID:16557584 PMID:16616356 PMID:17489848 PMID:17956577 PMID:18414213 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19300419 PMID:19394335 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20418187 PMID:20571908 PMID:20725929 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:22266422 PMID:22703879 PMID:22744763 PMID:22926731 PMID:23035301 PMID:23108399 PMID:23361220 PMID:23605219 PMID:24033266 PMID:24444654 PMID:24569162 PMID:24728327 PMID:24733792 PMID:25741868 PMID:25820570 PMID:25980754 PMID:26202870 PMID:26467025 PMID:26517685 PMID:26556299 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27631816 PMID:27797849 PMID:27829682 PMID:28492532 PMID:28503720 PMID:28709830 PMID:28944238 PMID:29506128 PMID:29557500 PMID:30067863 PMID:30256826 PMID:30291343 PMID:30306255 PMID:30564557 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30613976 PMID:30676620 PMID:30833417 PMID:30877237 PMID:30953464 PMID:31159747 PMID:31263571 PMID:31447099 PMID:31589614 PMID:31921681 PMID:31980526 PMID:32088803 PMID:32283892 PMID:32338768 PMID:32615015 PMID:32830346 PMID:33193653 PMID:33258288 PMID:33332384 PMID:33384714 PMID:33442023 PMID:33504652 More...
NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645
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NCOA1
nuclear receptor coactivator 1
ISO
mRNA:increased expression:endometrium
RGD
PMID:14751175
RGD:2298984
NCBI chr2A:24,485,068...24,764,135
Ensembl chr2A:24,733,117...24,859,488
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NCOR2
nuclear receptor corepressor 2
ISO
mRNA:increased expression:endometrium
RGD
PMID:14751175
RGD:2298984
NCBI chr12:121,913,368...122,155,031
Ensembl chr12:126,201,779...126,372,745
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NOS3
nitric oxide synthase 3
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:9276029
RGD:2292090
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:17200668 PMID:20091115 PMID:21285249 PMID:21365267 PMID:22241545 PMID:22692731 PMID:25186627 PMID:25356972 PMID:25741868 PMID:26283626 PMID:26315354 PMID:26467025 PMID:26689913 PMID:26692951 PMID:26898890 PMID:28440294 PMID:28492532 PMID:28580595 PMID:28767289 PMID:28779002 PMID:30287823 PMID:31636395 PMID:32068069 PMID:32566746 PMID:33113089 PMID:33471991 PMID:33588785 More...
NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
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PGP
phosphoglycolate phosphatase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,070,291...1,073,123
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:23636398
RGD:13628733
NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
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POLD1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:12376507 PMID:17145065 PMID:25529843 PMID:25741868 PMID:26467025 PMID:26748215 PMID:26811195 PMID:28492532 More...
NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611
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POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
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PRKCA
protein kinase C alpha
ISO
RGD
PMID:11371124
RGD:2292462
NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:1945792 PMID:7728760 PMID:8980400 PMID:9326929 PMID:9536098 PMID:9740666 PMID:9915974 PMID:10555148 PMID:10866302 PMID:10920277 PMID:11504908 PMID:11948419 PMID:12372056 PMID:16014636 PMID:17576681 PMID:17942903 PMID:18767981 PMID:20085938 PMID:21103832 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22327138 PMID:22703879 PMID:23161105 PMID:23399955 PMID:23442912 PMID:23470840 PMID:23555315 PMID:24033266 PMID:24055113 PMID:24292679 PMID:24728327 PMID:24763289 PMID:25157968 PMID:25186627 PMID:25669429 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26580448 PMID:26619011 PMID:26795104 PMID:26800850 PMID:27428751 PMID:27477328 PMID:27535533 PMID:28135145 PMID:28492532 PMID:28677221 PMID:29371908 PMID:29706350 PMID:29785012 PMID:31144778 PMID:31159747 PMID:31209962 PMID:32350270 More...
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PTGS1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
RGD
PMID:18416056
RGD:2300125
NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
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PTK2
protein tyrosine kinase 2
severity
ISO
protein:increased expression:endometrium
RGD
PMID:15536334
RGD:2292562
NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
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RAD51C
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
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RASSF1
Ras association domain family member 1
ISO
DNA, protein:hypermethylation, decreased expression:promoter,
RGD
PMID:18469797
RGD:2299863
NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392
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RNPS1
RNA binding protein with serine rich domain 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,110,249...1,124,975
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RUNX3
RUNX family transcription factor 3
ISO
DNA:promoter:hypermethylated
RGD
PMID:18572225
RGD:2302555
NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
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SFN
stratifin
ISO
RGD
PMID:16271083
RGD:2299931
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
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SMAD4
SMAD family member 4
severity
ISO
mRNA:decreased expression:endometrium DNA:substitutions:promoter
RGD
PMID:10331746 PMID:15385128
RGD:2299966 RGD:2300009
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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SPARC
secreted protein acidic and cysteine rich
ISO
DNA, mRNA, protein:hypermethylation, altered expression
RGD
PMID:17487382
RGD:2300020
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
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STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
Ensembl chr19:1,188,537...1,210,677
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TACC3
transforming acidic coiled-coil containing protein 3
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019
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TFF1
trefoil factor 1
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:9221798
RGD:2298572
NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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TIMP1
TIMP metallopeptidase inhibitor 1
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:12487935
RGD:2298523
NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419
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TIMP2
TIMP metallopeptidase inhibitor 2
disease_progression
ISO
mRNA:decreased expression:endometrium
RGD
PMID:17009991
RGD:2290360
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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TIMP4
TIMP metallopeptidase inhibitor 4
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:12798711
RGD:2290420
NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
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TP53
tumor protein p53
severity
ISO
protein:increased expression:epithelial cell, endometrium ClinVar Annotator: match by term: Endometrial carcinoma
RGD ClinVar
PMID:18431720 PMID:25741868 PMID:28492532
RGD:2298525
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TRAF7
TNF receptor associated factor 7
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
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TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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WNT2
Wnt family member 2
ISO
mRNA:decreased expression:endometrium
RGD
PMID:9099960
RGD:2291875
NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862
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WNT3
Wnt family member 3
ISO
mRNA:decreased expression:tumor:vs normal endometrium
RGD
PMID:9099960
RGD:2291875
NCBI chr17:10,685,160...10,741,402
Ensembl chr17:10,862,310...10,918,865
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WNT4
Wnt family member 4
ISO
mRNA:decreased expression:tumor:vs normal endometrium
RGD
PMID:9099960
RGD:2291875
NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
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WNT5A
Wnt family member 5A
ISO
mRNA:decreased expression:tumor:vs normal endometrium
RGD
PMID:9099960
RGD:2291875
NCBI chr 3:55,396,279...55,418,579
Ensembl chr 3:56,621,380...56,638,051
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BIRC5
baculoviral IAP repeat containing 5
ISO
protein:increased expression:endometrium
RGD
PMID:16803539
RGD:2298940
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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CA9
carbonic anhydrase 9
ISO
protein:altered localization:membrane, endometrium
RGD
PMID:17452774
RGD:2298945
NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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CDC25B
cell division cycle 25B
ISO
protein:increased expression:endometrium
RGD
PMID:14559803
RGD:4105451
NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
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CDC25C
cell division cycle 25C
ISO
RGD
PMID:12931023
RGD:4105452
NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698
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CDKN1C
cyclin dependent kinase inhibitor 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22064387
NCBI chr11:2,908,537...2,911,134
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CELSR2
cadherin EGF LAG seven-pass G-type receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr 1:111,627,551...111,653,775
Ensembl chr 1:110,791,682...110,815,421
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CSRP1
cysteine and glycine rich protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr 1:177,081,772...177,105,448
Ensembl chr 1:181,382,994...181,406,863
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DDX1
DEAD-box helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr2A:15,582,499...15,619,751
Ensembl chr2A:15,716,044...15,753,623
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JUP
junction plakoglobin
ISO
protein:decreased expression:endometrium
RGD
PMID:12635138
RGD:2301747
NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
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KRAS
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19419940
RGD:2314912
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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MMP7
matrix metallopeptidase 7
ISO
protein:increased expression:endometrium
RGD
PMID:17352221
RGD:2298522
NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
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PTEN
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16402032
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PTK2
protein tyrosine kinase 2
ISO
protein:increased expression:endometrium
RGD
PMID:15536334
RGD:2292562
NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
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SKP2
S-phase kinase associated protein 2
ISO
associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:16080017
RGD:2315043
NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311
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TFF1
trefoil factor 1
ISO
protein:increased expression:endometrium
RGD
PMID:9221798
RGD:2298572
NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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ABCC9
ATP binding cassette subfamily C member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104009
NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
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AKR1B1
aldo-keto reductase family 1 member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23146748
NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
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AKR1B10
aldo-keto reductase family 1 member B10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23146748
NCBI chr 7:126,486,012...126,499,852
Ensembl chr 7:138,992,835...139,006,003
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AMHR2
anti-Mullerian hormone receptor type 2
ISO
protein:increased expression:endometrium
RGD
PMID:17988723
RGD:2315651
NCBI chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175
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APC
APC regulator of WNT signaling pathway
ISO
RGD
PMID:24474556
RGD:13524584
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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ARID1A
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104009
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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ATR
ATR serine/threonine kinase
ISO
ClinVar Annotator: match by term: Endometrial neoplasm
ClinVar
PMID:19470935 PMID:21228398 PMID:23144622 PMID:28492532
NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
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BCL2
BCL2 apoptosis regulator
severity
ISO
RGD
PMID:18386458
RGD:2298890
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BIRC5
baculoviral IAP repeat containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363521
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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CALB2
calbindin 2
ISO
protein:decreased expression:endometrium
RGD
PMID:18604736
RGD:2315881
NCBI chr16:53,620,317...53,653,372
Ensembl chr16:71,195,770...71,227,937
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CCL2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17380299
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCND1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:endometrium
CTD RGD
PMID:18306533 PMID:29232554
RGD:2296034
NCBI chr11:64,737,006...64,750,353
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CD44
CD44 molecule (Indian blood group)
disease_progression
ISO
mRNA, protein:splice variant, increased expression:endometrium protein:decreased expression:endometrium
RGD
PMID:14658589 PMID:16308159
RGD:2289358 RGD:2296044
NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
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CD46
CD46 molecule
ISO
protein:increased expression:tumor:versus benign endometrium (p<0.0001)
RGD
PMID:10637067
RGD:2293548
NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046
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CDH1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8075649
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CDK2
cyclin dependent kinase 2
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:17483252
RGD:2289230
NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945
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CDK4
cyclin dependent kinase 4
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:14648178
RGD:2299055
NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
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CDKN1A
cyclin dependent kinase inhibitor 1A
susceptibility
ISO
DNA:polymorphism:cds:p.S31R protein:increased expression:endometrium
RGD
PMID:15099969 PMID:16837908
RGD:2289683 RGD:2296047
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
protein:decreased expression:endometrium
RGD
PMID:15188025
RGD:2299090
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
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CDKN1C
cyclin dependent kinase inhibitor 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22064387
NCBI chr11:2,908,537...2,911,134
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CDKN2A
cyclin dependent kinase inhibitor 2A
severity
ISO
protein:increased expression:endometrium
RGD
PMID:16837908
RGD:2289683
NCBI chr 9:21,803,862...21,831,322
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CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
DNA:SNPs: :rs615552, rs573687 (human)
RGD
PMID:23361049
RGD:7248756
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
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CHD4
chromodomain helicase DNA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104009
NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076
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CNR1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29805589 PMID:32751388
NCBI chr 6:86,017,141...86,044,889
G
CNR2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29805589
NCBI chr 1:23,066,153...23,108,065
Ensembl chr 1:24,050,008...24,051,090
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CTNNA1
catenin alpha 1
disease_progression
ISO
RGD
PMID:16803534
RGD:2298485
NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
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CTNNB1
catenin beta 1
disease_progression
ISO
ClinVar Annotator: match by term: Endometrial neoplasm
RGD ClinVar
PMID:9065402 PMID:9294210 PMID:10192393 PMID:16803534 PMID:25157968 PMID:25741868 PMID:26619011 More...
RGD:2298485
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17380299
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23200943
NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
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DCN
decorin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16804899
NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413
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DNMT1
DNA methyltransferase 1
ISO
mRNA,protein:decreased expression:uterus:
RGD
PMID:15721400
RGD:9588596
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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DNMT3B
DNA methyltransferase 3 beta
ISO
mRNA,protein:decreased expression:uterus:
RGD
PMID:15721400
RGD:9588596
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
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EGF
epidermal growth factor
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:25416211
RGD:13432197
NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
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EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104009
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression severity
ISO
DNA:amplification
RGD
PMID:17945336 PMID:18202752
RGD:2298490 RGD:2298491
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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ERBB3
erb-b2 receptor tyrosine kinase 3
ISO
protein:increased expression:endometrium
RGD
PMID:10537356
RGD:2298505
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
protein:increased expression:endometrium
RGD
PMID:10537356
RGD:2298505
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:polymorphism:exon:p.R156R(human)
RGD
PMID:26349749
RGD:12880439
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185510
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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ESR2
estrogen receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25437045
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21903722
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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FBXW7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104009
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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FGFR2
fibroblast growth factor receptor 2
susceptibility
ISO
DNA:SNP ClinVar Annotator: match by term: Endometrial neoplasm
RGD ClinVar
PMID:7719344 PMID:8651276 PMID:8696350 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18247426 PMID:18552176 PMID:18785201 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 More...
RGD:2301188
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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FHIT
fragile histidine triad diadenosine triphosphatase
ISO
protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators
RGD
PMID:10873085
RGD:2289899
NCBI chr 3:59,670,777...61,177,974
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FLT1
fms related receptor tyrosine kinase 1
severity disease_progression
ISO
mRNA, protein:increased expression:endometrium
RGD
PMID:10831352 PMID:12485477
RGD:2301252 RGD:2301256
NCBI chr13:9,584,850...9,779,542
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GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
human cells in a mouse xenograft model
RGD
PMID:23941783
RGD:13441554
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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HDAC1
histone deacetylase 1
disease_progression
ISO
RGD
PMID:18714364
RGD:2306205
NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
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HDAC2
histone deacetylase 2
disease_progression
ISO
RGD
PMID:18714364
RGD:2306205
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
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HOXA10
homeobox A10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21670700
NCBI chr 7:27,815,112...27,818,829
Ensembl chr 7:27,415,833...27,423,580
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HOXA11
homeobox A11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16804899
NCBI chr 7:27,826,003...27,829,757
Ensembl chr 7:27,424,759...27,429,103
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HSD17B2
hydroxysteroid 17-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23200943
NCBI chr16:62,642,316...62,705,261
Ensembl chr16:82,062,042...82,125,139
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IGF1R
insulin like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21442237
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
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IGFBP3
insulin like growth factor binding protein 3
ISO
protein:decreased expression:plasma:significantly lower circulating levels in 80 cases vs 80 controls (p<0.001), significantly decreased risk in the highest quartile of expression
RGD
PMID:15159305
RGD:2290018
NCBI chr 7:46,564,234...46,573,145
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INHA
inhibin subunit alpha
ISO
mRNA:decreased expression:endometrium
RGD
PMID:15745937
RGD:1579943
NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386
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JAG1
jagged canonical Notch ligand 1
ISO
RGD
PMID:18691378
RGD:2299152
NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
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JAZF1
JAZF zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18264096
NCBI chr 7:28,477,005...28,826,561
Ensembl chr 7:28,072,363...28,233,192
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KDR
kinase insert domain receptor
disease_progression
ISO
mRNA:increased expression:endometrium
RGD
PMID:11745191 PMID:12485477
RGD:2301252 RGD:2301760
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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KRAS
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19960433
RGD:2314907
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LASP1
LIM and SH3 protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28232485
NCBI chr17:18,350,002...18,401,693
Ensembl chr17:18,623,071...18,674,731
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LNPEP
leucyl and cystinyl aminopeptidase
ISO
RGD
PMID:15491750
RGD:2314921
NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876
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LOC100974874
E3 ubiquitin-protein ligase CHFR
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17143476
NCBI chr12:130,201,704...130,247,891
Ensembl chr12:134,923,458...134,968,832
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MAP3K4
mitogen-activated protein kinase kinase kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104009
NCBI chr 6:158,937,424...159,062,550
Ensembl chr 6:163,948,122...164,073,264
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MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:24917306
RGD:13441559
Ensembl chr16:30,489,362...30,498,017
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
DNA:amplification
RGD
PMID:11719459
RGD:70557
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
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MLH3
mutL homolog 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
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MMP2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:17009991
RGD:2290360
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MSH2
mutS homolog 2
ISO
DNA, protein:mutation, decreased expression:endometrium
RGD
PMID:11920468 PMID:17925543
RGD:2293523 RGD:2298951
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MSH3
mutS homolog 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469
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MSH6
mutS homolog 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10508506
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17301261
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26656844
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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NCAPG
non-SMC condensin I complex subunit G
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34480403
NCBI chr 4:12,232,614...12,265,320
Ensembl chr 4:17,524,826...17,571,798
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20530669
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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NRIP1
nuclear receptor interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27348297
NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673
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OGG1
8-oxoguanine DNA glycosylase
no_association
ISO
DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human)
RGD
PMID:22271435 PMID:22544315
RGD:8657377 RGD:8657379
NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
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PAWR
pro-apoptotic WT1 regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15877079
NCBI chr12:77,114,282...77,224,116
Ensembl chr12:79,969,517...80,070,796
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PGR
progesterone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23200943
NCBI chr11:95,997,677...96,098,866
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PHB1
prohibitin 1
ISO
protein:increased expression:endometrium
RGD
PMID:10421803
RGD:2292406
NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
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PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
ISO
mRNA:increased expression:endometrium (human)
RGD
PMID:17427168
RGD:13441594
NCBI chr 3:135,685,120...135,867,096
Ensembl chr 3:143,288,563...143,431,314
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PLXNA3
plexin A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21933904
NCBI chr X:143,900,029...143,915,391
Ensembl chr X:153,772,700...153,786,167
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POLD1
DNA polymerase delta 1, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263490
NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611
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PTEN
phosphatase and tensin homolog
severity
ISO
protein:decreased expression:endometrium CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:loss of heterozygosity:cds: (human)
RGD CTD
PMID:9326929 PMID:9354433 PMID:9765621 PMID:12888921 PMID:16402032 PMID:16804899 PMID:17317031 More...
RGD:12832746 RGD:12832753 RGD:2292506
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PTGS2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
RGD
PMID:18416056
RGD:2300125
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RB1
RB transcriptional corepressor 1
ISO
RGD
PMID:14648178
RGD:2299055
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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RNF144B
ring finger protein 144B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29724995
NCBI chr 6:18,124,935...18,316,842
Ensembl chr 6:18,586,953...18,668,674
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RNF43
ring finger protein 43
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25344691
NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748
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SEMA3B
semaphorin 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21933904
NCBI chr 3:50,196,147...50,205,744
Ensembl chr 3:51,430,287...51,439,886
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SEMA3F
semaphorin 3F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21933904
NCBI chr 3:50,083,733...50,117,518
Ensembl chr 3:51,318,089...51,351,958
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SIX1
SIX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27259717
NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494
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SKP2
S-phase kinase associated protein 2
ISO
RGD
PMID:15220466
RGD:2315045
NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311
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SOCS3
suppressor of cytokine signaling 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16804899
NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066
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SPINK1
serine peptidase inhibitor Kazal type 1
ISO
RGD
PMID:9891532
RGD:2300389
NCBI chr 5:143,273,137...143,287,745
G
SPOP
speckle type BTB/POZ protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104009
NCBI chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623
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SRD5A2
steroid 5 alpha-reductase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23200943
NCBI chr2A:31,542,646...31,597,394
Ensembl chr2A:31,610,487...31,665,718
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SRSF10
serine and arginine rich splicing factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21072693
NCBI chr 1:23,170,078...23,184,030
Ensembl chr 1:24,149,428...24,165,057
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ST14
ST14 transmembrane serine protease matriptase
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:19443387
RGD:2315087
NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
G
STAR
steroidogenic acute regulatory protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23200943
NCBI chr 8:37,446,334...37,454,102
Ensembl chr 8:34,623,201...34,629,544
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STAT3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:endometrium
RGD
PMID:17311011
RGD:1643476
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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SULT2B1
sulfotransferase family 2B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25437045
NCBI chr19:45,576,770...45,601,839
Ensembl chr19:54,146,574...54,192,407
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SUZ12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18264096
NCBI chr17:24,790,921...24,853,790
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TERT
telomerase reverse transcriptase
ISO
mRNA:increased expression:endometrium
RGD
PMID:11078809
RGD:2298562
NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
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TIMP3
TIMP metallopeptidase inhibitor 3
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:12798711
RGD:2290420
NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
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TNFSF10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20071162
NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7955072
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TP73
tumor protein p73
susceptibility
ISO
DNA:hypermethylation DNA:polymorphism:exon
RGD
PMID:15723718 PMID:16928264
RGD:2290585 RGD:2298528
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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TRPV1
transient receptor potential cation channel subfamily V member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32751388
NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
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TRPV2
transient receptor potential cation channel subfamily V member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32751388
NCBI chr17:35,329,283...35,350,729
Ensembl chr2A:110,620,793...110,642,926
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TSPYL2
TSPY like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23104009
NCBI chr X:45,293,843...45,300,307
Ensembl chr X:53,400,290...53,409,275
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17380299
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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ZEB1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18622689
NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Endometrial serous adenocarcinoma
ClinVar
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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BRCA2
BRCA2 DNA repair associated
susceptibility
ISO
DNA:deletion: :6174delT
RGD
PMID:16650962
RGD:2289045
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:tumor:increased in 6/8 (75%) of tumors
RGD
PMID:17367465
RGD:2292170
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
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AKT1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 More...
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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APC
APC regulator of WNT signaling pathway
ISO
mRNA, protein:decreased expression:endometrium (human)
RGD
PMID:18570730
RGD:13432144
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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AREG
amphiregulin
ISO
mRNA, protein:increased expression:endometrium
RGD
PMID:16962163
RGD:2289950
NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142
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ATP7B
ATPase copper transporting beta
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:15790435
RGD:2298864
NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
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BIRC5
baculoviral IAP repeat containing 5
ISO
protein:increased expression:endometrium
RGD
PMID:16803539
RGD:2298940
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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BMP4
bone morphogenetic protein 4
ISO
RGD
PMID:12782598
RGD:2296026
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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CA9
carbonic anhydrase 9
ISO
protein:altered localization:membrane, endometrium
RGD
PMID:17452774
RGD:2298945
NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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CCNE1
cyclin E1
ISO
protein:increased expression:endometrium
RGD
PMID:17483252
RGD:2289230
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
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CDH1
cadherin 1
ISO
protein:decreased expression:endometrium
RGD
PMID:18295959
RGD:2296045
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CDK2
cyclin dependent kinase 2
severity
ISO
RGD
PMID:9673386
RGD:2298990
NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
RGD
PMID:17985331
RGD:2299091
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
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CHEK2
checkpoint kinase 2
susceptibility
ISO
RGD
PMID:17164260
RGD:2293868
NCBI chr22:9,757,038...9,811,171
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CTNNB1
catenin beta 1
ISO
DNA:mutations
RGD
PMID:17418409
RGD:2289817
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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DAXX
death domain associated protein
ISO
protein:increased expression:ovary:
RGD
PMID:23539629
RGD:9587820
NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717
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DNMT1
DNA methyltransferase 1
ISO
mRNA,protein:increased expression:uterus:
RGD
PMID:15721400
RGD:9588596
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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DNMT3B
DNA methyltransferase 3 beta
ISO
mRNA,protein:increased expression:uterus:
RGD
PMID:15721400
RGD:9588596
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar
PMID:22885469
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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ENO2
enolase 2
ISO
RGD
PMID:18156975
RGD:2293737
NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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ERBB3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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ESR1
estrogen receptor 1
severity
ISO
protein:increased phosphorylation
RGD
PMID:14559803
RGD:4105451
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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FGFR2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar
PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 More...
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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IGFBP3
insulin like growth factor binding protein 3
disease_progression
ISO
RGD
PMID:17952116
RGD:2301465
NCBI chr 7:46,564,234...46,573,145
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INHA
inhibin subunit alpha
ISO
protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue
RGD
PMID:17143484
RGD:2290368
NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386
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INHBA
inhibin subunit beta A
ISO
protein:decreased expression:endometrium
RGD
PMID:16423381
RGD:2301688
NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
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KDR
kinase insert domain receptor
severity
ISO
protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009)
RGD
PMID:16557278
RGD:2291929
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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KRAS
KRAS proto-oncogene, GTPase
ISO
associated with Ovarian Neoplasms
RGD
PMID:19542870
RGD:2314910
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LNPEP
leucyl and cystinyl aminopeptidase
ISO
associated with Endometrial Neoplasms
RGD
PMID:15218296
RGD:2314922
NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876
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LOC100974383
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
Ensembl chr16:777,146...783,449
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MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:24917306
RGD:13441559
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:24917306
RGD:13441559
Ensembl chr16:30,489,362...30,498,017
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NKX2-1
NK2 homeobox 1
ISO
DNA:hypermethylation
RGD
PMID:17504987
RGD:2290483
NCBI chr14:17,224,870...17,273,252
Ensembl chr14:35,404,127...35,626,722
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PDGFRA
platelet derived growth factor receptor alpha
ISO
protein:decreased expression:ovary
RGD
PMID:15791568
RGD:2298578
NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
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PDGFRB
platelet derived growth factor receptor beta
ISO
protein:increased expression:ovary
RGD
PMID:15791568
RGD:2298578
NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
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PIK3R2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar
PMID:21984976 PMID:25741868
NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177
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POLE
DNA polymerase epsilon, catalytic subunit
ameliorates
ISO
DNA:mutations:multiple (human)
RGD
PMID:29505428
RGD:151347648
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
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PTEN
phosphatase and tensin homolog
ISO
DNA:mutations: :multiple DNA:loss of heterozygosity, mutations:multiple (human)
RGD
PMID:11156411 PMID:17418409
RGD:12802357 RGD:2289817
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:16633066
RGD:1581360
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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ST14
ST14 transmembrane serine protease matriptase
ISO
associated with Ovarian Neoplasms;protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
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WIF1
WNT inhibitory factor 1
ISO
mRNA:increased expression:ovary
RGD
PMID:16436637
RGD:2298535
NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807
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BTK
Bruton tyrosine kinase
disease_progression
ISO
RGD
PMID:31247078
RGD:124715471
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
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DNMT1
DNA methyltransferase 1
ISO
protein:increased expression:ectopic endometrium:
RGD
PMID:22572543
RGD:9588664
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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DNMT3A
DNA methyltransferase 3 alpha
ISO
protein:decreased expression:endometrium:
RGD
PMID:22572543
RGD:9588664
NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
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DNMT3B
DNA methyltransferase 3 beta
ISO
protein:increased expression:ectopic endometrium:
RGD
PMID:22572543
RGD:9588664
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
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CASP3
caspase 3
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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CASP6
caspase 6
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chr 4:102,186,215...102,201,992
Ensembl chr 4:112,753,988...112,768,836
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CASP7
caspase 7
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626
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CASP9
caspase 9
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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IL1A
interleukin 1 alpha
ISO
protein:increased expression:endometrium
RGD
PMID:25330821
RGD:11059518
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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TREM1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:31365951
RGD:126928127
NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
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POU5F1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18440631
NCBI chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426
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CGA
glycoprotein hormones, alpha polypeptide
ISO
protein:increased expression:serum
RGD
PMID:2473429
RGD:2293636
NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300
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KHDC3L
KH domain containing 3 like, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:25741868
NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826
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MLH1
mutL homolog 1
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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MMP2
matrix metallopeptidase 2
ISO
protein:increased expression:syncytiotrophoblast cell
RGD
PMID:16884384
RGD:2290363
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MSH2
mutS homolog 2
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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NCR1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:24033266 PMID:25741868
NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
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NLRP7
NLR family pyrin domain containing 7
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:24033266 PMID:25741868
NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844
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PDGFRB
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
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MSH2
mutS homolog 2
ISO
protein:decreased expression:mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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NCR1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1
ClinVar
PMID:11598368 PMID:14756744 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25097207 PMID:25741868 PMID:28492532 More...
NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
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NLRP7
NLR family pyrin domain containing 7
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1
OMIM ClinVar
PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 PMID:14756744 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22025618 PMID:22315435 PMID:22361007 PMID:22646272 PMID:22909446 PMID:23065465 PMID:23125094 PMID:23201303 PMID:23354651 PMID:23515668 PMID:23963444 PMID:24033266 PMID:24105752 PMID:24137163 PMID:24533231 PMID:25082979 PMID:25097207 PMID:25376457 PMID:25741868 PMID:26121690 PMID:26323243 PMID:28492532 More...
NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844
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KHDC3L
KH domain containing 3 like, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2
OMIM ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 PMID:23232697 PMID:24033266 More...
NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826
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MEI1
meiotic double-stranded break formation protein 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3
OMIM ClinVar
PMID:25741868 PMID:30388401
NCBI chr22:22,592,508...22,692,370
Ensembl chr22:40,678,001...40,777,076
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LOC100981621
CAAX prenyl protease 2
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4
OMIM ClinVar
PMID:25741868 PMID:30388401
NCBI chr11:62,101,228...62,203,793
Ensembl chr11:65,427,937...65,522,087 Ensembl chr11:65,427,937...65,522,087
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