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: Uterine Neoplasms
Accession: DOID:9004268
browse the term
Definition: Tumors or cancer of the UTERUS.
Synonyms: exact_synonym: neoplasm of uterus; tumour of uterus; uterine neoplasm; uterine tumor; uterus neoplasm; uterus neoplasms
primary_id: MESH:D014594
xref: EFO:0003859
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BAP1
BRCA1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16391232
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9774950
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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CTNNB1
catenin beta 1
ISO
protein:decreased phosphorylation, increased expression:uterus, nucleus
RGD
PMID:17072826
RGD:2289830
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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FLT1
fms related receptor tyrosine kinase 1
ISO
Uterine sarcomas; protein:altered expression:tumor:increased expression of total FLT1 but decreased expression of phospho-FLT1
RGD
PMID:15823121
RGD:2289964
NCBI chr13:9,584,850...9,779,542
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HMGA1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645019
NCBI chr 6:33,807,171...33,816,603
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HOXB9
homeobox B9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27182052
NCBI chr17:8,910,421...8,916,128
Ensembl chr17:9,095,438...9,100,747
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INHBA
inhibin subunit beta A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228119
NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
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KRAS
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17325976
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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NKX2-1
NK2 homeobox 1
ISO
DNA:hypermethylation
RGD
PMID:17504987
RGD:2290483
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Neoplasm of uterus
ClinVar
PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 PMID:25741868 PMID:27553368 PMID:28492532 More...
NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
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PDGFRA
platelet derived growth factor receptor alpha
ISO
RGD
PMID:17049587
RGD:2292177
NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
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PROM1
prominin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21919130
NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454
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PSMB9
proteasome 20S subunit beta 9
ISO
RGD
PMID:11782352
RGD:6483440
NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
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SMAD3
SMAD family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228119
NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
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TERT
telomerase reverse transcriptase
ISO
mRNA:increased expression:serum
RGD
PMID:17273731
RGD:2291989
Ensembl chr 5:1,300,960...1,338,872
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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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CD8A
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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FOXP3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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IFNA6
interferon alpha 6
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 9:21,211,046...21,211,734
Ensembl chr 9:21,828,719...21,829,288
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IL10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL12B
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381
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IL2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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IL4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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IL6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:23,415,922...23,420,767
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KLRK1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
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MAPK8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr10:45,806,748...45,936,362
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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NCR1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
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PDCD1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:130,849,353...130,858,776
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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PTPN6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830
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SERPINF1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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TGFB1
transforming growth factor beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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TLR2
toll like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR3
toll like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
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TLR4
toll like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TLR7
toll like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517
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TLR8
toll like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:5,518,742...5,535,304
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TNF
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
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BIRC2
baculoviral IAP repeat containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
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BIRC3
baculoviral IAP repeat containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
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SPINK1
serine peptidase inhibitor Kazal type 1
ISO
RGD
PMID:2258083
RGD:2300391
NCBI chr 5:143,273,137...143,287,745
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TFF1
trefoil factor 1
ISO
mRNA, protein:increased expression:uterine cervix
RGD
PMID:10727981
RGD:2298570
NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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TFRC
transferrin receptor
ISO
protein:increased expression:uterine cervix
RGD
PMID:9739406
RGD:2292022
NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
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TP53
tumor protein p53
disease_progression
ISO
RGD
PMID:17354237
RGD:2298527
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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ANG
angiogenin
ISO
protein:increased expression:serum
RGD
PMID:11299848
RGD:2325708
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
DNA:polymorphism: :p.D148E (human)
RGD
PMID:18503157 PMID:19292061
RGD:2315657 RGD:2315662
NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
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API5
apoptosis inhibitor 5
disease_progression
ISO
mRNA:increased expression
RGD
PMID:10780674
RGD:1643340
NCBI chr11:43,279,024...43,311,602
Ensembl chr11:43,759,414...43,791,975
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BCL2L1
BCL2 like 1
ISO
protein:increased expression:uterine cervix
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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BIRC2
baculoviral IAP repeat containing 2
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16504151
RGD:1643527
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
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BRCA1
BRCA1 DNA repair associated
disease_progression
ISO
DNA:hypermethylation:promoter
RGD
PMID:12773202
RGD:2298941
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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BRIP1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Cervical cancer
ClinVar
PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 PMID:31214711 PMID:32566746 More...
NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
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BSG
basigin (Ok blood group)
disease_progression
ISO
RGD
PMID:18223224
RGD:2296028
Ensembl chr19:539,815...551,456
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CASP3
caspase 3
ISO
RGD
PMID:18177927
RGD:2298948
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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CCNB1
cyclin B1
ISO
mRNA, protein:increased expression:uterine cervix
RGD
PMID:16614707
RGD:2315938
NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332
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CD55
CD55 molecule (Cromer blood group)
ISO
RGD
PMID:9358772
RGD:2293549
NCBI chr 1:182,923,369...182,962,518
Ensembl chr 1:187,201,081...187,240,350
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CDC25A
cell division cycle 25A
ISO
RGD
PMID:18299147
RGD:2296067
NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
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CDC25C
cell division cycle 25C
ISO
RGD
PMID:15289842
RGD:4105450
NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698
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CDH13
cadherin 13
ISO
DNA:hypermethylation:promoter
RGD
PMID:17548682
RGD:2293543
NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996
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CDK1
cyclin dependent kinase 1
ISO
RGD
PMID:18299147
RGD:2296067
NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434
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EBAG9
estrogen receptor binding site associated antigen 9
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16112176
RGD:2289851
NCBI chr 8:106,190,208...106,216,402
Ensembl chr 8:108,335,590...108,361,475
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
protein:increased expression: uterine cervix, cytoplasm
RGD
PMID:28042953
RGD:126790468
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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FANCA
FA complementation group A
no_association
ISO
DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human) DNA:SNP: :rs11649196 (human)
RGD
PMID:19012493 PMID:21543111
RGD:11344886 RGD:11344901
NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer
ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 More...
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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GSTM1
glutathione S-transferase mu 1
susceptibility
ISO
RGD
PMID:18177825
RGD:2293825
Ensembl chr 1:127,979,238...128,010,411
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HNRNPC
heterogeneous nuclear ribonucleoprotein C
ISO
protein:increased expression:cervical epithelium (human)
RGD
PMID:19319956
RGD:10054394
NCBI chr14:2,022,280...2,083,215
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HOXB13
homeobox B13
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:16803519
RGD:2314728
NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
Protein: increased expression
RGD
PMID:21137014
RGD:6218976
NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
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IL10
interleukin 10
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:9541628
RGD:2317658
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL1B
interleukin 1 beta
susceptibility
ISO
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)
RGD
PMID:25893807
RGD:36174015
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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KDM3A
lysine demethylase 3A
severity
ISO
human gene in a mouse model
RGD
PMID:23492365
RGD:9590219
NCBI chr2A:86,497,531...86,548,772
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KMT2A
lysine methyltransferase 2A
ISO
human gene in a mouse model
RGD
PMID:22926525
RGD:9588221
NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
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KMT2E
lysine methyltransferase 2E (inactive)
ISO
human gene in a mouse model
RGD
PMID:25172963
RGD:9588553
NCBI chr 7:97,001,250...97,099,956
Ensembl chr 7:109,734,808...109,832,851
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LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human) DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)
RGD
PMID:16425277 PMID:25893807
RGD:36174015 RGD:36174023
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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LOC100982859
class I histocompatibility antigen, Gogo-B*0101 alpha chain
susceptibility
ISO
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7
RGD
PMID:12543794
RGD:2314696
NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
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LOC100995226
HLA class II histocompatibility antigen, DP beta 1 chain
susceptibility
ISO
DNA:polymorphism: :HLA-DPB1*1301 (human)
RGD
PMID:17349874
RGD:150429811
NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
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MACC1
MET transcriptional regulator MACC1
ISO
mRNA:increased expression:cervical region (human)
RGD
PMID:33603486
RGD:152999025
NCBI chr 7:20,826,105...20,904,602
Ensembl chr 7:20,144,960...20,170,423
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MAP2K6
mitogen-activated protein kinase kinase 6
ISO
RGD
PMID:20980434
RGD:7495806
NCBI chr17:63,342,720...63,483,926
Ensembl chr17:68,730,011...68,870,454
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MDC1
mediator of DNA damage checkpoint 1
ISO
mRNA, protein:increased expression:uterine cervix (human)
RGD
PMID:21853275
RGD:9589052
NCBI chr 6:30,444,570...30,462,432
Ensembl chr 6:31,314,560...31,329,243
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MED4
mediator complex subunit 4
severity
ISO
mRNA:decreased expression:uterine cervix (human)
RGD
PMID:19911042
RGD:12880436
NCBI chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836
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MMP1
matrix metallopeptidase 1
disease_progression
ISO
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:14550952
RGD:7207024
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP13
matrix metallopeptidase 13
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:17243165
RGD:2306082
NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:missense mutation:cds:g.1298A>C (human)
RGD
PMID:27771518
RGD:38501051
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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NDUFS6
NADH:ubiquinone oxidoreductase subunit S6
disease_progression
ISO
DNA, mRNA:amplification, increased expression:uterine cervix
RGD
PMID:18559093
RGD:2302384
NCBI chr 5:2,132,177...2,147,226
Ensembl chr 5:1,854,644...1,869,711
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NRAS
NRAS proto-oncogene, GTPase
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:14984964
RGD:2314838
NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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PGM3
phosphoglucomutase 3
ISO
RGD
PMID:508567
RGD:2299870
NCBI chr 6:81,062,356...81,090,215
Ensembl chr 6:84,336,092...84,364,515
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PRKN
parkin RBR E3 ubiquitin protein ligase
disease_progression
ISO
protein:decreased expression:uterine cervix (human)
RGD
PMID:28631565
RGD:13432557
NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770
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PTK2
protein tyrosine kinase 2
disease_progression
ISO
RGD
PMID:16638855
RGD:2292556
NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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PTPN6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830
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RASSF1
Ras association domain family member 1
ISO
associated with Papillomavirus Infections;DNA:hypermethylation:promoter
RGD
PMID:18608185
RGD:2299861
NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392
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SF3B4
splicing factor 3b subunit 4
severity
ISO
mRNA, protein:increased expression:cervix (human) human cells in mouse model
RGD
PMID:35853859
RGD:155882439
NCBI chr 1:125,268,113...125,273,405
Ensembl chr 1:128,924,317...128,929,610
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SMAD2
SMAD family member 2
ISO
DNA, mRNA:insertion, deletion, decreased expression:uterine cervix
RGD
PMID:12894231
RGD:2299968
NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
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SMAD4
SMAD family member 4
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:12894231
RGD:2299968
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
mRNA:increased expression:cervix epithelium (human)
RGD
PMID:27581326
RGD:13441596
NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961
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SPAG5
sperm associated antigen 5
severity
ISO
mRNA, protein:increased expression:cervix (human)
RGD
PMID:35853859
RGD:155882439
NCBI chr17:28,176,288...28,198,493
Ensembl chr17:28,680,492...28,702,050
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TAP1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:12648582 PMID:18248301
RGD:6482260 RGD:6482272
NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:12648582 PMID:18248301
RGD:6482260 RGD:6482272
NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
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TIMP4
TIMP metallopeptidase inhibitor 4
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:15816637
RGD:2290434
NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
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TNF
tumor necrosis factor
susceptibility
ISO
DNA:polymorphism:promoter:-308G>A (human)
RGD
PMID:19823053
RGD:2315116
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF10A
TNF receptor superfamily member 10a
ISO
RGD
PMID:16271751
RGD:2290493
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Cancer of cervix
ClinVar
PMID:1349102 PMID:1849234 PMID:9407971 PMID:12826609 PMID:15982667 PMID:16754663 PMID:19913028 PMID:20516128 PMID:20538734 PMID:22110706 PMID:25131192 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30374176 PMID:30816478 More...
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:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human)
RGD
PMID:30420492
RGD:151347580
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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XRCC1
X-ray repair cross complementing 1
ISO
DNA:polymorphism: :p.R194W
RGD
PMID:18851872
RGD:2302567
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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ZFHX3
zinc finger homeobox 3
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11812077
RGD:2315697
NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360
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STK11
serine/threonine kinase 11
disease_progression
ISO
DNA:mutations
RGD
PMID:12533684
RGD:2291947
Ensembl chr19:1,188,537...1,210,677
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ADAR
adenosine deaminase RNA specific
disease_progression
ISO
protein:increased expression:cervix squamous epithelium (human)
RGD
PMID:28109322
RGD:125097518
NCBI chr 1:129,937,993...129,983,747
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BAX
BCL2 associated X, apoptosis regulator
ISO
protein:increased expression:uterine cervix
RGD
PMID:17694953
RGD:1643352
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BIRC2
baculoviral IAP repeat containing 2
disease_progression
ISO
DNA, protein:amplification, increased expression:uterine cervix, nucleus
RGD
PMID:12208731
RGD:1643529
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
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BRIP1
BRCA1 interacting helicase 1
severity
ISO
mRNA, protein:increased expression:uterine cervix, nucleus (human)
RGD
PMID:24708616
RGD:11252104
NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
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CCL22
C-C motif chemokine ligand 22
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213
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CCR4
C-C motif chemokine receptor 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564
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CD82
CD82 molecule
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15642213
RGD:2289399
NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876
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CSF1R
colony stimulating factor 1 receptor
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
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FGF7
fibroblast growth factor 7
ISO
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells
RGD
PMID:17306351
RGD:2289084
NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
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FGFR3
fibroblast growth factor receptor 3
no_association
ISO
DNA:missense mutation:cds: p.S249G (human)
RGD
PMID:11605053
RGD:38500202
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
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FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
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FOXP3
forkhead box P3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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PDPN
podoplanin
disease_progression
ISO
RGD
PMID:16528371
RGD:2292237
NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584
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SMAD3
SMAD family member 3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
protein:decreased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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TMBIM6
transmembrane BAX inhibitor motif containing 6
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:15337562
RGD:2291959
NCBI chr12:38,986,844...39,010,307
Ensembl chr12:39,879,951...39,902,303
G
TNFRSF4
TNF receptor superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
Ensembl chr 1:1,168,935...1,171,337
G
TNFSF4
TNF superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845 Ensembl chr 1:152,391,450...152,415,845
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TP53
tumor protein p53
disease_progression
ISO
RGD
PMID:17969407
RGD:2298526
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TYMP
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:16803522
RGD:2293719
NCBI chr22:30,772,088...30,776,618
G
APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
DNA:SNPs (human)
RGD
PMID:19202550
RGD:2315691
NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
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BAG1
BAG cochaperone 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:10047462
RGD:2293889
NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167
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BAK1
BCL2 antagonist/killer 1
ISO
DNA:missense mutations:exon:multiple (human)
RGD
PMID:12771926
RGD:2315701
NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211
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CCND3
cyclin D3
ISO
RGD
PMID:14751136
RGD:2316013
NCBI chr 6:41,518,421...41,630,103
Ensembl chr 6:42,820,569...42,827,498
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CD9
CD9 molecule
disease_progression
ISO
RGD
PMID:14695144
RGD:2326206
NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385
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EFEMP2
EGF containing fibulin extracellular matrix protein 2
exacerbates
ISO
mRNA, protein:increased expression:cervix epithelium (human)
RGD
PMID:24737201
RGD:42722607
NCBI chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950
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ERAP1
endoplasmic reticulum aminopeptidase 1
ISO
DNA:SNPs (human)
RGD
PMID:19202550
RGD:2315691
NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365
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FGFR3
fibroblast growth factor receptor 3
ISO
DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported
RGD
PMID:10471491 PMID:11114733
RGD:2289864 RGD:2289865
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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GSTM1
glutathione S-transferase mu 1
onset
ISO
associated with Papillomavirus Infections;DNA:deletion:cds (human)
RGD
PMID:10813720
RGD:7495819
Ensembl chr 1:127,979,238...128,010,411
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
DNA:polymorphisms:cds:p.I143V, p.K178R (human)
RGD
PMID:17234722
RGD:2317690
NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
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PTGS1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
RGD
PMID:16803521
RGD:2300207
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
ISO
protein:increased tyrosine phosphorylation:cervix
RGD
PMID:14675348
RGD:2292568
NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
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SPARC
secreted protein acidic and cysteine rich
ISO
DNA:hypermethylation
RGD
PMID:16434596
RGD:2300022
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNP: :(rs4148876)(human)
RGD
PMID:17366619
RGD:6482264
NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
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TK1
thymidine kinase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:11474248
RGD:2317243
NCBI chr17:72,251,416...72,265,308
Ensembl chr17:77,803,749...77,816,747
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TSG101
tumor susceptibility 101
ISO
mRNA:alternative forms:uterine cervix:multiple mRNA:alternative form:uterine cervix
RGD
PMID:10505033 PMID:10600297
RGD:2291851 RGD:2291852
NCBI chr11:18,518,110...18,564,814
Ensembl chr11:18,189,868...18,248,149
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ADAM9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chr 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192
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BCL2
BCL2 apoptosis regulator
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18561741
RGD:2298889
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BRCA1
BRCA1 DNA repair associated
ISO
DNA:deletions:exon
RGD
PMID:10442317
RGD:2298942
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
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CADM1
cell adhesion molecule 1
severity
ISO
RGD
PMID:17009984
RGD:2289089
NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324
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CCND1
cyclin D1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr11:64,737,006...64,750,353
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CCNE1
cyclin E1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
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CCNG1
cyclin G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728
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CD274
CD274 molecule
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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CD46
CD46 molecule
ISO
protein:increased expression:uterine cervix
RGD
PMID:9358772
RGD:2293549
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
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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CDK4
cyclin dependent kinase 4
disease_progression
ISO
associated with Papillomavirus Infections;protein:increased expression:cervix epithelium
RGD
PMID:18301453
RGD:2293574
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
ISO
protein:increased expression:epithelial cell:
RGD
PMID:9546362
RGD:8662446
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
G
CDKN1B
cyclin dependent kinase inhibitor 1B
disease_progression
ISO
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
G
CDKN2A
cyclin dependent kinase inhibitor 2A
disease_progression
ISO
protein:increased expression DNA:hypermethylation protein:increased expression:uterine cervix
RGD
PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346
RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058
NCBI chr 9:21,803,862...21,831,322
G
CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
protein:increased expression:uterine cervix
RGD
PMID:17632454
RGD:2289695
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
G
CSF1R
colony stimulating factor 1 receptor
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
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CTNNA1
catenin alpha 1
disease_progression
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
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DLG1
discs large MAGUK scaffold protein 1
ISO
protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis
RGD
PMID:15221964
RGD:2306812
NCBI chr 3:194,386,263...194,648,015
Ensembl chr 3:204,323,724...204,584,987
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FASLG
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
G
HDAC1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
G
HDAC2
histone deacetylase 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
G
HDAC6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642
G
IGFBP3
insulin like growth factor binding protein 3
ISO
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01) mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
RGD
PMID:14675666 PMID:17709267
RGD:2290004 RGD:2290021
NCBI chr 7:46,564,234...46,573,145
G
IL1B
interleukin 1 beta
susceptibility
ISO
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)
RGD
PMID:25893807
RGD:36174015
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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MGP
matrix Gla protein
ISO
RGD
PMID:17960611
RGD:2293584
NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523
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MLH1
mutL homolog 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
G
MMP2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
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
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
G
MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
G
PDCD1
programmed cell death 1
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:T cell
RGD
PMID:23521696
RGD:40822817
NCBI chr12:130,849,353...130,858,776
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PHB1
prohibitin 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
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POU4F1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20190800
NCBI chr13:59,821,614...59,829,671
G
PTEN
phosphatase and tensin homolog
ISO
protein:decreased expression:uterine cervix
RGD
PMID:17672936
RGD:2298701
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
PTGS2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:uterine cervix, epithelial cell
RGD
PMID:18565574
RGD:2299119
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
G
RB1
RB transcriptional corepressor 1
ISO
associated with Adenocarcinoma
RGD
PMID:18234283
RGD:2299896
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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RELA
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
protein:altered localization, increased expression:nucleus, uterine cervix
RGD
PMID:16850495
RGD:2298759
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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SKP2
S-phase kinase associated protein 2
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:19094580
RGD:2315036
NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311
G
SRSF1
serine and arginine rich splicing factor 1
disease_progression
ISO
associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human)
RGD
PMID:19718710
RGD:11039410
NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425
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STAT3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased serine phosphorylation:cervix epithelium protein:increased expression:nucleus
RGD
PMID:16005944 PMID:17110342
RGD:2291916 RGD:2298536
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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TERT
telomerase reverse transcriptase
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:17644806
RGD:2291985
Ensembl chr 5:1,300,960...1,338,872
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THRB
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11483913
RGD:2315099
NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960
G
TOP2A
DNA topoisomerase II alpha
ISO
RGD
PMID:19051821
RGD:2315126
NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
G
TP63
tumor protein p63
disease_progression
ISO
RGD
PMID:16804722
RGD:2315435
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
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TP73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11870517
RGD:2290589
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:uterine cervix
RGD
PMID:19723043
RGD:2315456
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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XIAP
X-linked inhibitor of apoptosis
ISO
protein:increased expression:uterine cervix
RGD
PMID:18325467
RGD:2315850
NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606
G
FGF8
fibroblast growth factor 8
ISO
protein:increased expression:testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
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IGF2
insulin like growth factor 2
disease_progression
ISO
protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR
RGD
PMID:17556377
RGD:2290454
NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
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INSR
insulin receptor
disease_progression
ISO
protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR
RGD
PMID:17556377
RGD:2290454
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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PDGFB
platelet derived growth factor subunit B
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
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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
G
TIMP3
TIMP metallopeptidase inhibitor 3
ISO
DNA, protein:hypermethylation, decreased expression:promoter, placenta
RGD
PMID:15507671
RGD:2290418
NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
GPX3
glutathione peroxidase 3
ISO
mRNA:decreased expression:endometrium (rat)
RGD
PMID:19426485
RGD:2312621
NCBI chr 5:146,447,939...146,456,476
G
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
G
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
G
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
G
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
G
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
G
PDCD10
programmed cell death 10
disease_progression
ISO
protein:increased expression:endometrium (human)
RGD
PMID:32186778
RGD:401827111
NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
CDH1
cadherin 1
ISO
OMIM
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
DHFR
dihydrofolate reductase
ISO
ClinVar Annotator: match by term: MSH3-related condition
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29641532 PMID:36652909
NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003
G
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
G
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
G
ERRFI1
ERBB receptor feedback inhibitor 1
ISO
OMIM:608089
MouseDO
NCBI chr 1:6,771,619...6,786,217
Ensembl chr 1:8,011,848...8,033,674
G
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
G
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
G
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
G
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
G
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
G
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
G
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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LOC100969764
sulfotransferase 1A1
ISO
RGD
PMID:16985250
RGD:1581436
G
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
ClinVar OMIM
PMID:12702580 PMID:28195393 PMID:28492532 PMID:31297992
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
ClinVar Annotator: match by term: MSH3-related condition
OMIM ClinVar
PMID:25741868 PMID:26467025 PMID:27476653 PMID:28492532 PMID:29212164 PMID:29641532 PMID:31054147 PMID:33606809 PMID:36652909 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
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:15036665 PMID:15635083 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:25186627 PMID:25590978 PMID:25741868 PMID:25820570 PMID:26202870 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27014339 PMID:27153395 PMID:27783336 PMID:27829682 PMID:27870730 PMID:28127763 PMID:28135145 PMID:28152038 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28577310 PMID:28634180 PMID:28687356 PMID:28709830 PMID:28944238 PMID:29147111 PMID:29371908 PMID:29766397 PMID:29785153 PMID:29978187 PMID:30067863 PMID:30256826 PMID:30291343 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30620386 PMID:30676620 PMID:30702970 PMID:30833417 PMID:30877237 PMID:31159747 PMID:31263571 PMID:31285513 PMID:31447099 PMID:31512090 PMID:31618753 PMID:31980526 PMID:32088803 PMID:32231684 PMID:32338768 PMID:32570879 PMID:32830346 PMID:32854451 PMID:33087929 PMID:33258288 PMID:33384714 PMID:33442023 PMID:33504652 PMID:34259353 PMID:34308366 PMID:34347074 PMID:34426522 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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PTEN
phosphatase and tensin homolog
ISO
OMIM:608089
MouseDO
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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RAD21
RAD21 cohesin complex component
onset
ISO
DNA:CNV: (human)
RGD
PMID:25546926
RGD:329322876
NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421
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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
OMIM:608089
RGD MouseDO
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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TP53
tumor protein p53
ISO
OMIM:608089
MouseDO
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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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 PMID:32885271
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:25741868 PMID:28492532
NCBI chr14:55,213,600...55,265,198
Ensembl chr14:74,060,653...74,112,165
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ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
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
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:133608 PMID:1300551 PMID:8845835 PMID:8968760 PMID:10425038 PMID:11298136 PMID:12673797 PMID:12810666 PMID:12815592 PMID:19781682 PMID:21445571 PMID:21787400 PMID:23322442 PMID:23555315 PMID:23807571 PMID:24728327 PMID:25186627 PMID:25525159 PMID:25614872 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26689913 PMID:26787654 PMID:26837699 PMID:27443514 PMID:28152038 PMID:28492532 PMID:28873162 PMID:29486991 PMID:29625052 PMID:29659569 PMID:30192042 PMID:30338439 PMID:30651582 PMID:31050087 PMID:31159747 PMID:31206626 PMID:31214711 PMID:31589614 PMID:31611883 PMID:31741144 PMID:31920950 PMID:32427313 PMID:32461654 PMID:32832836 PMID:32853339 PMID:33280026 PMID:33436325 PMID:33462019 PMID:33558524 PMID:34204722 PMID:36521553 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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BARD1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:20077502 PMID:21344236 PMID:25330149 PMID:25741868 PMID:25980754 PMID:25994375 PMID:26010302 PMID:26075229 PMID:26315354 PMID:26329992 PMID:26467025 PMID:26681312 PMID:26689913 PMID:27153395 PMID:27443514 PMID:28008555 PMID:28492532 PMID:29625052 PMID:30947698 PMID:31036035 PMID:32295079 PMID:32679805 PMID:33471991 PMID:37239058 PMID:37563628 More...
NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145
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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:7545954 PMID:7581445 PMID:7837387 PMID:7894492 PMID:8531967 PMID:8644702 PMID:8644703 PMID:8833256 PMID:8841191 PMID:9042909 PMID:9145676 PMID:9150153 PMID:9634504 PMID:9663595 PMID:10090881 PMID:10447273 PMID:10464624 PMID:10667592 PMID:10667595 PMID:10739756 PMID:10788334 PMID:10885601 PMID:11157798 PMID:11251181 PMID:11466700 PMID:11504767 PMID:11597388 PMID:11802209 PMID:11896095 PMID:12125210 PMID:12393792 PMID:12402332 PMID:12496476 PMID:12566964 PMID:12752644 PMID:12771565 PMID:12955716 PMID:14576434 PMID:14729053 PMID:14986830 PMID:15024741 PMID:15133502 PMID:15235020 PMID:15383404 PMID:15876480 PMID:15951956 PMID:15994883 PMID:16014699 PMID:16030426 PMID:16168118 PMID:16267036 PMID:16284991 PMID:16541315 PMID:16685647 PMID:17279547 PMID:17307836 PMID:17308087 PMID:17574969 PMID:17591843 PMID:17922257 PMID:17924331 PMID:18334730 PMID:18431737 PMID:18489799 PMID:18694767 PMID:18762988 PMID:18763032 PMID:18783588 PMID:18936166 PMID:18940477 PMID:19147582 PMID:19200354 PMID:19208665 PMID:19340607 PMID:19359128 PMID:19563646 PMID:20104584 PMID:20301425 PMID:20345474 PMID:20373018 PMID:20507347 PMID:20516115 PMID:20569256 PMID:20730485 PMID:21119707 PMID:21232165 PMID:21324516 PMID:21356067 PMID:21473589 PMID:21503673 PMID:21520273 PMID:21643751 PMID:21702907 PMID:21834074 PMID:21965345 PMID:21989927 PMID:21990134 PMID:22006311 PMID:22009639 PMID:22032251 PMID:22185575 PMID:22430266 PMID:22535016 PMID:22666503 PMID:22776961 PMID:22889855 PMID:23161852 PMID:23199084 PMID:23232912 PMID:23289006 PMID:23469205 PMID:23479189 PMID:23683081 PMID:23867111 PMID:23954390 PMID:24033266 PMID:24055113 PMID:24312913 PMID:24319668 PMID:24504028 PMID:24728189 PMID:24737347 PMID:24825132 PMID:24845084 PMID:24884479 PMID:25066507 PMID:25330149 PMID:25418591 PMID:25428789 PMID:25452441 PMID:25472942 PMID:25637381 PMID:25682074 PMID:25741868 PMID:25777348 PMID:25948282 PMID:25980754 PMID:26083025 PMID:26219728 PMID:26295337 PMID:26350514 PMID:26440929 PMID:26467025 PMID:26556299 PMID:26666763 PMID:26681312 PMID:26689913 PMID:26718727 PMID:26852130 PMID:26884819 PMID:27062684 PMID:27272900 PMID:27425403 PMID:27433846 PMID:27741520 PMID:27914478 PMID:27989354 PMID:28049106 PMID:28091860 PMID:28111427 PMID:28265380 PMID:28285342 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28724667 PMID:28831036 PMID:29161300 PMID:29168416 PMID:29297111 PMID:29310832 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29433453 PMID:29446198 PMID:29478780 PMID:29492181 PMID:29625052 PMID:29712865 PMID:29758562 PMID:29790872 PMID:29907814 PMID:29961768 PMID:30067863 PMID:30103829 PMID:30113427 PMID:30152102 PMID:30159786 PMID:30186769 PMID:30257646 PMID:30287823 PMID:30322717 PMID:30333958 PMID:30480775 PMID:30489631 PMID:30606148 PMID:30613976 PMID:30676620 PMID:30702160 PMID:30825404 PMID:30975216 PMID:31065452 PMID:31090900 PMID:31159747 PMID:31360904 PMID:31447099 PMID:31454914 PMID:31472684 PMID:31528241 PMID:31825140 PMID:31851867 PMID:32039725 PMID:32058061 PMID:32295079 PMID:32338768 PMID:32341426 PMID:32438681 PMID:32719484 PMID:32854451 PMID:32885271 PMID:33098347 PMID:33449224 PMID:33468216 PMID:33471991 PMID:33484353 PMID:35409996 PMID:36003761 PMID:36329109 PMID:36612302 PMID:36881271 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:8075631 PMID:8524414 PMID:8673091 PMID:8673092 PMID:8758903 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8898735 PMID:8988179 PMID:9042909 PMID:9145676 PMID:9150153 PMID:9585608 PMID:9585613 PMID:9758598 PMID:10227398 PMID:10417300 PMID:10433620 PMID:10464624 PMID:10570174 PMID:10595255 PMID:10733239 PMID:10739756 PMID:11267991 PMID:11359068 PMID:11466700 PMID:11597388 PMID:11802209 PMID:11896095 PMID:11920643 PMID:11938448 PMID:12097257 PMID:12402332 PMID:12473589 PMID:12569143 PMID:12672316 PMID:12698193 PMID:12955716 PMID:14559878 PMID:14576434 PMID:15340362 PMID:15695382 PMID:15994883 PMID:16683254 PMID:16825431 PMID:17148771 PMID:17591843 PMID:17850627 PMID:18607349 PMID:19188187 PMID:19530235 PMID:19949876 PMID:20104584 PMID:20216074 PMID:20301425 PMID:20736950 PMID:20859677 PMID:20887823 PMID:21324516 PMID:21614564 PMID:21720365 PMID:22006311 PMID:22009639 PMID:22430266 PMID:22476429 PMID:22703879 PMID:22923021 PMID:23199084 PMID:23341105 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23633455 PMID:23658460 PMID:24033266 PMID:24156927 PMID:24448499 PMID:24504028 PMID:24728189 PMID:24884479 PMID:24916970 PMID:25036526 PMID:25085752 PMID:25348012 PMID:25395318 PMID:25741868 PMID:25980754 PMID:26026974 PMID:26041759 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26295337 PMID:26440929 PMID:26467025 PMID:26556299 PMID:26577449 PMID:26659639 PMID:26681312 PMID:26689913 PMID:26867194 PMID:27153395 PMID:27425403 PMID:27433846 PMID:27495310 PMID:27831900 PMID:27836010 PMID:27974047 PMID:27989354 PMID:28492532 PMID:28687356 PMID:28724667 PMID:28767289 PMID:28814288 PMID:28873162 PMID:28944232 PMID:28993434 PMID:29084914 PMID:29161300 PMID:29288066 PMID:29321669 PMID:29335925 PMID:29339979 PMID:29368341 PMID:29371908 PMID:29433453 PMID:29439820 PMID:29446198 PMID:29470806 PMID:29492181 PMID:29506128 PMID:29566657 PMID:29625052 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29937315 PMID:29945567 PMID:29961768 PMID:29978187 PMID:30093976 PMID:30113427 PMID:30122538 PMID:30152102 PMID:30186769 PMID:30267214 PMID:30274973 PMID:30322717 PMID:30489631 PMID:30555256 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30630528 PMID:30702160 PMID:30716324 PMID:30720243 PMID:30787465 PMID:30875412 PMID:30883245 PMID:31076742 PMID:31090900 PMID:31263054 PMID:31444830 PMID:31447099 PMID:31589614 PMID:31825140 PMID:31911673 PMID:31948886 PMID:32255556 PMID:32295079 PMID:32338768 PMID:32341426 PMID:32438681 PMID:32719484 PMID:32853339 PMID:32885271 PMID:32918181 PMID:33077847 PMID:33087929 PMID:33471991 PMID:33654310 PMID:34308366 PMID:34326862 PMID:34399810 PMID:35264596 PMID:35464868 PMID:35908255 More...
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
G
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
G
BSG
basigin (Ok blood group)
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:17342307
RGD:2296029
Ensembl chr19:539,815...551,456
G
C9H11orf65
chromosome 9 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:28873162 PMID:29659569 PMID:30651582 PMID:31159747 PMID:31920950 PMID:33436325 PMID:33558524 PMID:36521553 More...
NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
G
CASKIN1
CASK interacting protein 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,035,826...1,055,005
G
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
G
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
G
CDH1
cadherin 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 PMID:11332401 PMID:11598162 PMID:11747475 PMID:11948460 PMID:12588804 PMID:12800196 PMID:14500541 PMID:15235021 PMID:16061854 PMID:16501831 PMID:16787116 PMID:16801346 PMID:16924464 PMID:17221870 PMID:17522512 PMID:17545690 PMID:18442100 PMID:19139070 PMID:19268661 PMID:19269290 PMID:19725995 PMID:20233471 PMID:20373070 PMID:20719348 PMID:20921021 PMID:21106365 PMID:21271559 PMID:21424370 PMID:22470475 PMID:22703879 PMID:22723466 PMID:23197654 PMID:23264079 PMID:23709761 PMID:24033266 PMID:24204729 PMID:24326041 PMID:24493355 PMID:24690483 PMID:24728327 PMID:24755471 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25231023 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25882375 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26182300 PMID:26206375 PMID:26467025 PMID:26483394 PMID:26580448 PMID:26681312 PMID:26759166 PMID:26845104 PMID:26893459 PMID:27146957 PMID:27153395 PMID:27227907 PMID:27443514 PMID:27582386 PMID:27616075 PMID:27621404 PMID:27720647 PMID:27930734 PMID:27978560 PMID:28125075 PMID:28135145 PMID:28352678 PMID:28492532 PMID:28608266 PMID:28640387 PMID:28688938 PMID:28767289 PMID:28873162 PMID:28944238 PMID:28961279 PMID:28993866 PMID:29025585 PMID:29348693 PMID:29492670 PMID:29522266 PMID:29577179 PMID:29589180 PMID:29641532 PMID:29752822 PMID:30089731 PMID:30287823 PMID:30311375 PMID:30374176 PMID:30426508 PMID:30661051 PMID:31159747 PMID:31514334 PMID:31589614 PMID:31742824 PMID:31871109 PMID:32269045 PMID:32283892 PMID:32566746 PMID:32658311 PMID:32842532 PMID:33193653 PMID:33471991 PMID:33619332 PMID:33980423 PMID:34471991 PMID:35089076 PMID:36436516 PMID:36605468 PMID:36988593 More...
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
G
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
G
CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:9536098 PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 PMID:15810020 PMID:17085682 PMID:17576681 PMID:19030985 PMID:20417869 PMID:21876083 PMID:22058216 PMID:22114986 PMID:23296741 PMID:24713400 PMID:25085752 PMID:25186627 PMID:25525159 PMID:25583358 PMID:25741868 PMID:25980754 PMID:26084796 PMID:26094658 PMID:26446916 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26822949 PMID:26845104 PMID:27153395 PMID:27616075 PMID:27751358 PMID:28211887 PMID:28492532 PMID:28727877 PMID:28779002 PMID:28802053 PMID:28873162 PMID:29520813 PMID:29785007 PMID:29902706 PMID:29958926 PMID:30264118 PMID:30303537 PMID:30322717 PMID:30374176 PMID:30426508 PMID:30676620 PMID:30851065 PMID:30927251 PMID:31050813 PMID:31159747 PMID:31263571 PMID:31360903 PMID:31422574 PMID:31447099 PMID:31843900 PMID:32295079 PMID:32338768 PMID:32383162 PMID:32546565 PMID:32875559 PMID:32885271 PMID:32906215 PMID:33030641 PMID:33050356 PMID:33077847 PMID:33726816 PMID:33804961 PMID:34308366 PMID:34570182 PMID:34903604 PMID:34992046 PMID:35155181 More...
NCBI chr22:9,757,038...9,811,171
G
DHFR
dihydrofolate reductase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20154325 PMID:25741868 PMID:26467025 PMID:27476653 PMID:28492532 PMID:29641532 PMID:36652909 PMID:37402566 More...
NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003
G
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
G
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
G
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
G
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
G
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
G
FGF7
fibroblast growth factor 7
ISO
mRNA:decreased expression:endometrium
RGD
PMID:9070494
RGD:2301091
NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
G
FGFR2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:7719344 PMID:8651276 PMID:8696350 PMID:9002682 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16440883 PMID:16531735 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24489893 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 More...
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
G
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
G
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
G
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
G
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
G
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
G
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
G
KISS1
KiSS-1 metastasis suppressor
disease_progression
ISO
mRNA:decreased expression:endometrium
RGD
PMID:15949424
RGD:2302170
G
KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16051643 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:26242988 PMID:28492532 PMID:29493581 PMID:31666701 PMID:35658005 More...
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
G
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
G
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
G
MLH1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:1756143 PMID:7728749 PMID:8566964 PMID:8571956 PMID:8574961 PMID:8592341 PMID:8797773 PMID:8872463 PMID:9322509 PMID:9490293 PMID:9526167 PMID:9536098 PMID:9697702 PMID:9806477 PMID:9833759 PMID:10323887 PMID:10349986 PMID:10480359 PMID:10732761 PMID:11112663 PMID:11385712 PMID:11429708 PMID:11524701 PMID:11555625 PMID:11601928 PMID:11781295 PMID:11948175 PMID:12112654 PMID:12115348 PMID:12200596 PMID:12362047 PMID:12373605 PMID:12377806 PMID:12522551 PMID:12547705 PMID:12618391 PMID:12624141 PMID:12655568 PMID:12658575 PMID:12810663 PMID:12919140 PMID:14871975 PMID:15133479 PMID:15300854 PMID:15309712 PMID:15713769 PMID:15765394 PMID:15849733 PMID:15872200 PMID:15926618 PMID:15955785 PMID:16341550 PMID:16341804 PMID:16395668 PMID:16451135 PMID:16830052 PMID:16995940 PMID:17026620 PMID:17054581 PMID:17135187 PMID:17192056 PMID:17199584 PMID:17453009 PMID:17510385 PMID:17569143 PMID:17576681 PMID:18373977 PMID:18383312 PMID:18470917 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18726168 PMID:18772310 PMID:19224586 PMID:19248199 PMID:19267393 PMID:19419416 PMID:19690142 PMID:19698169 PMID:19863800 PMID:20020535 PMID:20215533 PMID:20233461 PMID:20305446 PMID:20937110 PMID:21034533 PMID:21056691 PMID:21311894 PMID:21404117 PMID:21598002 PMID:21681552 PMID:22322191 PMID:22691310 PMID:22703879 PMID:22736432 PMID:22886683 PMID:22949379 PMID:22949387 PMID:23329266 PMID:23403630 PMID:23695190 PMID:23760103 PMID:23797718 PMID:24033266 PMID:24055113 PMID:24090359 PMID:24323032 PMID:24333619 PMID:24344984 PMID:24362816 PMID:24710284 PMID:24728327 PMID:24933000 PMID:25085752 PMID:25107687 PMID:25117503 PMID:25133505 PMID:25430799 PMID:25637381 PMID:25741868 PMID:25892863 PMID:25980754 PMID:26053027 PMID:26096739 PMID:26248088 PMID:26300997 PMID:26332594 PMID:26437257 PMID:26467025 PMID:26666765 PMID:26681312 PMID:26845104 PMID:26895986 PMID:27153395 PMID:27435373 PMID:27535758 PMID:27600092 PMID:27601186 PMID:27696107 PMID:28127413 PMID:28135145 PMID:28449805 PMID:28492532 PMID:28643016 PMID:28874130 PMID:29212164 PMID:29237405 PMID:29752822 PMID:29887214 PMID:30256826 PMID:30521064 PMID:31054147 PMID:31159747 PMID:31350202 PMID:31491536 PMID:31784484 PMID:31948886 PMID:32295079 PMID:32849802 PMID:33471991 PMID:34039291 PMID:34326862 PMID:34408140 PMID:34680242 PMID:36988593 More...
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
G
MLH3
mutL homolog 3
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 PMID:29212164 More...
NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
G
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
G
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
G
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
G
MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:1586275 PMID:7585065 PMID:8640829 PMID:9222765 PMID:9536098 PMID:9718327 PMID:9774676 PMID:12115348 PMID:12362047 PMID:14504054 PMID:15235034 PMID:15342696 PMID:15655560 PMID:15713769 PMID:15849733 PMID:15862756 PMID:15872200 PMID:16451135 PMID:17192056 PMID:17312306 PMID:17440950 PMID:17531815 PMID:17576681 PMID:17665423 PMID:18383312 PMID:18772310 PMID:18822302 PMID:20305446 PMID:21239990 PMID:21879275 PMID:21926548 PMID:23047549 PMID:23729658 PMID:24033266 PMID:24278394 PMID:24362816 PMID:25081409 PMID:25117503 PMID:25326637 PMID:25420488 PMID:25479140 PMID:25525159 PMID:25741868 PMID:25964535 PMID:25987035 PMID:26467025 PMID:26951660 PMID:27449771 PMID:27601186 PMID:27606285 PMID:28492532 PMID:29212164 PMID:29967336 PMID:30998989 PMID:32295079 PMID:32849802 PMID:32885271 PMID:33357406 PMID:33471991 PMID:35264596 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:2635641 PMID:8782829 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20154325 PMID:21153778 PMID:22179786 PMID:25142776 PMID:25741868 PMID:26467025 PMID:26485759 PMID:27300758 PMID:27476653 PMID:28492532 PMID:28528517 PMID:28873162 PMID:28875981 PMID:28944238 PMID:29212164 PMID:29641532 PMID:30358836 PMID:30740464 PMID:31054147 PMID:31127692 PMID:31160353 PMID:31243857 PMID:31589614 PMID:32619037 PMID:32634176 PMID:32635641 PMID:33007869 PMID:33193653 PMID:33606809 PMID:34250384 PMID:34308366 PMID:34404389 PMID:34608827 PMID:34994648 PMID:36419139 PMID:36652909 PMID:37402566 More...
NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469
G
MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:183784 PMID:183865 PMID:216699 PMID:503524 PMID:580154 PMID:624910 PMID:1548301 PMID:2059188 PMID:2968408 PMID:3049887 PMID:3195077 PMID:5559809 PMID:8063241 PMID:9307272 PMID:9536098 PMID:9774676 PMID:9929971 PMID:10348829 PMID:10413423 PMID:10471527 PMID:10480359 PMID:10507723 PMID:10508506 PMID:10521294 PMID:10537275 PMID:10612827 PMID:10699937 PMID:10938287 PMID:11153917 PMID:11470537 PMID:11586295 PMID:11641390 PMID:11709755 PMID:11807791 PMID:11900875 PMID:12019211 PMID:12373605 PMID:12376742 PMID:12522549 PMID:12537658 PMID:12547705 PMID:12658575 PMID:12732731 PMID:12900794 PMID:14520694 PMID:14585961 PMID:14871975 PMID:14961575 PMID:14974087 PMID:15098177 PMID:15184898 PMID:15217520 PMID:15236168 PMID:15340264 PMID:15354210 PMID:15365995 PMID:15483016 PMID:15713769 PMID:15782118 PMID:15805151 PMID:15837969 PMID:15872200 PMID:16000562 PMID:16010685 PMID:16034045 PMID:16199547 PMID:16203774 PMID:16237223 PMID:16270383 PMID:16283884 PMID:16341805 PMID:16408224 PMID:16418736 PMID:16525781 PMID:16616355 PMID:16636019 PMID:16807412 PMID:16813607 PMID:16885385 PMID:16940983 PMID:17082796 PMID:17117178 PMID:17259933 PMID:17312306 PMID:17323113 PMID:17417778 PMID:17453009 PMID:17498565 PMID:17531815 PMID:17557300 PMID:17576681 PMID:17594722 PMID:17661183 PMID:17718861 PMID:17854147 PMID:17909073 PMID:18033691 PMID:18067074 PMID:18176851 PMID:18206535 PMID:18236172 PMID:18269114 PMID:18301448 PMID:18307539 PMID:18389388 PMID:18409202 PMID:18415027 PMID:18566915 PMID:18625694 PMID:18790734 PMID:18809606 PMID:19072991 PMID:19130300 PMID:19194194 PMID:19250818 PMID:19324997 PMID:19389263 PMID:19459153 PMID:19526325 PMID:19575290 PMID:19723918 PMID:19766128 PMID:19851887 PMID:19924528 PMID:20007843 PMID:20028993 PMID:20045164 PMID:20149637 PMID:20176959 PMID:20301390 PMID:20379851 PMID:20487569 PMID:20531397 PMID:20587412 PMID:20591884 PMID:20682701 PMID:20924129 PMID:20937110 PMID:21039432 PMID:21056691 PMID:21081928 PMID:21120944 PMID:21155762 PMID:21239990 PMID:21247423 PMID:21255554 PMID:21431882 PMID:21520333 PMID:21642682 PMID:21671081 PMID:21674763 PMID:21836479 PMID:21868491 PMID:22006311 PMID:22081473 PMID:22102614 PMID:22144684 PMID:22219001 PMID:22250089 PMID:22290698 PMID:22306203 PMID:22480969 PMID:22495361 PMID:22581703 PMID:22658618 PMID:22672937 PMID:22703879 PMID:22734033 PMID:22810696 PMID:22851212 PMID:22895193 PMID:22949379 PMID:22949387 PMID:23047549 PMID:23104009 PMID:23263490 PMID:23294250 PMID:23354634 PMID:23359684 PMID:23403630 PMID:23415222 PMID:23523604 PMID:23541221 PMID:23544471 PMID:23612316 PMID:23621914 PMID:23652311 PMID:23700467 PMID:23729658 PMID:23733757 PMID:23752102 PMID:23757202 PMID:23773459 PMID:23990280 PMID:24033266 PMID:24040339 PMID:24055113 PMID:24068316 PMID:24073290 PMID:24100870 PMID:24278394 PMID:24323032 PMID:24351291 PMID:24362816 PMID:24393486 PMID:24440087 PMID:24448499 PMID:24549055 PMID:24556621 PMID:24608573 PMID:24689082 PMID:24710284 PMID:24728189 PMID:24728327 PMID:24763289 PMID:24896128 PMID:24933100 PMID:24989436 PMID:25006859 PMID:25085752 PMID:25093288 PMID:25110875 PMID:25111426 PMID:25117503 PMID:25133505 PMID:25142776 PMID:25186627 PMID:25194673 PMID:25203624 PMID:25213678 PMID:25224212 PMID:25231023 PMID:25248401 PMID:25275298 PMID:25307252 PMID:25318681 PMID:25326637 PMID:25363768 PMID:25370038 PMID:25430799 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25559809 PMID:25561518 PMID:25583476 PMID:25617771 PMID:25637381 PMID:25642631 PMID:25741868 PMID:25782445 PMID:25801821 PMID:25862369 PMID:25892863 PMID:25938944 PMID:25954033 PMID:25980754 PMID:25985138 PMID:26023681 PMID:26099011 PMID:26206375 PMID:26274037 PMID:26300997 PMID:26318770 PMID:26333163 PMID:26374070 PMID:26436109 PMID:26436112 PMID:26437257 PMID:26440929 PMID:26457233 PMID:26467025 PMID:26483394 PMID:26485756 PMID:26517685 PMID:26530882 PMID:26544533 PMID:26552419 PMID:26580448 PMID:26633542 PMID:26635394 PMID:26648449 PMID:26666765 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26720728 PMID:26787237 PMID:26805314 PMID:26832770 PMID:26845104 PMID:26888055 PMID:26898890 PMID:26901136 PMID:26934580 PMID:26976419 PMID:27013479 PMID:27028851 PMID:27064304 PMID:27153395 PMID:27273229 PMID:27329137 PMID:27331139 PMID:27363726 PMID:27372833 PMID:27380347 PMID:27398995 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27456091 PMID:27487738 PMID:27498913 PMID:27601186 PMID:27616075 PMID:27696107 PMID:27714650 PMID:27723366 PMID:27854360 PMID:27863258 PMID:27882345 PMID:27920101 PMID:27928858 PMID:27930734 PMID:27978560 PMID:28125075 PMID:28135145 PMID:28152038 PMID:28176205 PMID:28195393 PMID:28206961 PMID:28283864 PMID:28323777 PMID:28369758 PMID:28449805 PMID:28460341 PMID:28466842 PMID:28481244 PMID:28491141 PMID:28492532 PMID:28502729 PMID:28514183 PMID:28523262 PMID:28528517 PMID:28528518 PMID:28531214 PMID:28577310 PMID:28591191 PMID:28596308 PMID:28640387 PMID:28687971 PMID:28724667 PMID:28726808 PMID:28765196 PMID:28767289 PMID:28873162 PMID:28874130 PMID:28878254 PMID:28888541 PMID:28912153 PMID:28922847 PMID:28932927 PMID:28944238 PMID:29025352 PMID:29044863 PMID:29107668 PMID:29212164 PMID:29245953 PMID:29263802 PMID:29300386 PMID:29333623 PMID:29338689 PMID:29345684 PMID:29348823 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29442399 PMID:29478780 PMID:29485237 PMID:29489754 PMID:29575718 PMID:29596542 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29684080 PMID:29700634 PMID:29710228 PMID:29717530 PMID:29753700 PMID:29755653 PMID:29785566 PMID:29875428 PMID:29887214 PMID:29915797 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29967336 PMID:29978187 PMID:30013564 PMID:30067863 PMID:30072391 PMID:30093976 PMID:30128536 PMID:30147880 PMID:30152102 PMID:30159786 PMID:30166433 PMID:30212499 PMID:30256257 PMID:30256826 PMID:30264118 PMID:30267214 PMID:30306255 PMID:30322717 PMID:30324682 PMID:30337059 PMID:30376427 PMID:30387329 PMID:30426508 PMID:30498870 PMID:30521064 PMID:30536544 PMID:30572730 PMID:30575961 PMID:30608896 PMID:30612635 PMID:30613976 PMID:30670635 PMID:30680046 PMID:30702970 PMID:30729418 PMID:30730459 PMID:30787465 PMID:30798936 PMID:30877237 PMID:30883245 PMID:30927264 PMID:30980208 PMID:30982232 PMID:31054147 PMID:31100584 PMID:31159747 PMID:31204389 PMID:31297337 PMID:31297992 PMID:31307542 PMID:31332305 PMID:31360874 PMID:31386297 PMID:31391288 PMID:31422574 PMID:31422818 PMID:31428572 PMID:31444830 PMID:31447099 PMID:31470354 PMID:31491536 PMID:31501241 PMID:31570381 PMID:31589614 PMID:31609810 PMID:31613886 PMID:31658756 PMID:31666926 PMID:31730237 PMID:31742824 PMID:31783044 PMID:31784482 PMID:31785789 PMID:31830689 PMID:31844177 PMID:31845022 PMID:31851094 PMID:31852831 PMID:31857677 PMID:31882575 PMID:31911633 PMID:31921681 PMID:31927803 PMID:31948886 PMID:31965077 PMID:31970404 PMID:31997046 PMID:32008151 PMID:32019277 PMID:32029870 PMID:32030746 PMID:32042422 PMID:32060697 PMID:32068069 PMID:32081490 PMID:32091409 PMID:32095738 PMID:32113160 PMID:32141610 PMID:32156018 PMID:32242007 PMID:32251017 PMID:32255556 PMID:32338768 PMID:32347951 PMID:32427313 PMID:32449172 PMID:32459922 PMID:32540221 PMID:32547938 PMID:32556862 PMID:32566746 PMID:32615015 PMID:32620917 PMID:32634176 PMID:32635641 PMID:32642664 PMID:32658311 PMID:32659497 PMID:32660107 PMID:32719484 PMID:32773772 PMID:32775946 PMID:32809219 PMID:32820175 PMID:32826389 PMID:32832836 PMID:32849802 PMID:32875559 PMID:32885271 PMID:32941469 PMID:32973888 PMID:32980694 PMID:33003368 PMID:33008098 PMID:33087929 PMID:33294277 PMID:33309985 PMID:33422027 PMID:33467402 PMID:33471991 PMID:33563768 PMID:33606809 PMID:33630411 PMID:33654310 PMID:33693762 PMID:33746161 PMID:33809179 PMID:33827469 PMID:33840814 PMID:33867526 PMID:33888356 PMID:33937060 PMID:34011629 PMID:34086170 PMID:34088725 PMID:34145315 PMID:34172528 PMID:34178123 PMID:34250417 PMID:34271781 PMID:34308104 PMID:34326862 PMID:34343771 PMID:34359559 PMID:34371384 PMID:34425783 PMID:34426522 PMID:34445333 PMID:34519692 PMID:34598035 PMID:34637943 PMID:34687117 PMID:34994648 PMID:35014770 PMID:35039564 PMID:35070997 PMID:35089076 PMID:35171259 PMID:35223509 PMID:35245693 PMID:35264596 PMID:35372080 PMID:35449176 PMID:35467778 PMID:35535697 PMID:35655404 PMID:35725860 PMID:35884469 PMID:35886069 PMID:35901820 PMID:35904628 PMID:35980532 PMID:36200007 PMID:36230473 PMID:36243179 PMID:36259290 PMID:36293153 PMID:36425062 PMID:36988593 PMID:37088804 More...
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
G
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:29147111 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 PMID:34026625 PMID:34259353 PMID:34426522 More...
NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645
G
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
G
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
G
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
G
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:25085752 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:31468469 PMID:31636395 PMID:32068069 PMID:32091409 PMID:32566746 PMID:32625235 PMID:32659497 PMID:32885271 PMID:33113089 PMID:33471991 PMID:33563768 PMID:33588785 PMID:36271373 More...
NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
G
PGP
phosphoglycolate phosphatase
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:1,070,291...1,073,123
G
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
G
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
G
PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
NCBI chr16:604,366...605,560
G
PMS2
PMS1 homolog 2, mismatch repair system component
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:16199547 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: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:24440087 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:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26811195 PMID:26845104 PMID:26866578 PMID:26898890 PMID:26921362 PMID:27001570 PMID:27050224 PMID:27203213 PMID:27379089 PMID:27433846 PMID:27435373 PMID:27476653 PMID:27806231 PMID:27863258 PMID:27878467 PMID:27930734 PMID:28125078 PMID:28135145 PMID:28152038 PMID:28449805 PMID:28492532 PMID:28528518 PMID:28596308 PMID:28873162 PMID:28888541 PMID:28975465 PMID:29333623 PMID:29345684 PMID:29570743 PMID:29752822 PMID:29785153 PMID:29875428 PMID:29887214 PMID:30013564 PMID:30322717 PMID:30608896 PMID:30612635 PMID:30651582 PMID:30653781 PMID:30680046 PMID:30702970 PMID:31159747 PMID:31300551 PMID:31327751 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31433215 PMID:31447099 PMID:31589614 PMID:31857677 PMID:31948886 PMID:31992580 PMID:32060697 PMID:32547938 PMID:32571878 PMID:32634176 PMID:32642664 PMID:32719484 PMID:33258288 PMID:33471991 PMID:33504652 PMID:34371384 PMID:35223509 PMID:35264596 PMID:35449176 PMID:35451539 PMID:35535697 PMID:36360190 More...
NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
G
POLD1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:12376507 PMID:17145065 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611
G
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
G
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
G
PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:1945792 PMID:7728760 PMID:8980400 PMID:9259288 PMID:9326929 PMID:9467011 PMID:9536098 PMID:9740666 PMID:9915974 PMID:10866302 PMID:10920277 PMID:11051241 PMID:11504908 PMID:11948419 PMID:16014636 PMID:16199547 PMID:17576681 PMID:17942903 PMID:18767981 PMID:20085938 PMID:20600018 PMID:20926450 PMID:21103832 PMID:21194675 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22327138 PMID:23399955 PMID:23470840 PMID:24033266 PMID:24055113 PMID:24292679 PMID:24766807 PMID:24778394 PMID:25157968 PMID:25741868 PMID:25980754 PMID:26619011 PMID:26795104 PMID:27535533 PMID:28492532 PMID:28677221 PMID:29706350 PMID:29785012 PMID:29931205 PMID:30311380 PMID:32350270 PMID:32832836 PMID:32885271 PMID:33723755 PMID:34386506 PMID:35227301 More...
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
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
G
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
G
RAD51C
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
PMID:20400964 PMID:21990120 PMID:24800917 PMID:25741868 PMID:26681312 PMID:26687385 PMID:26822949 PMID:28492532 PMID:32295079 More...
NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Endometrial hyperplasia without atypia
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 More...
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:27081525 PMID:28492532 More...
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 PMID:22841127 PMID:28492532 More...
NCBI chr 9:21,803,862...21,831,322
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CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26619011 PMID:26822237 More...
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 More...
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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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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AKR1C3
aldo-keto reductase family 1 member C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16338060
NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812
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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 (IN 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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CHFR
checkpoint with forkhead and ring finger domains
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17143476
NCBI chr12:130,318,971...130,366,282
Ensembl chr12:134,923,458...134,968,832 Ensembl chr12:134,923,458...134,968,832
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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
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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:9002682 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16440883 PMID:16531735 PMID:17525745 PMID:18247426 PMID:18552176 PMID:18785201 PMID:20301628 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26619011 PMID:27079505 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
G
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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LOC100969764
sulfotransferase 1A1
no_association
ISO
DNA:SNP::no difference in allele distribution or genotype between patients and controls DNA:SNP:CDS, 3'-UTR:rs9282861, rs6839 and rs1042157, alone or in combination with each other, also rs9282861 (GA + AA) combined with CYP1A1 SNP rs4646903 (TT) or with SULT1E1 SNP rs3736599 (GA+AA)
RGD
PMID:18318428 PMID:18497059
RGD:2301040 RGD:2301045
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LOC103785028
polycomb protein SUZ12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18264096
NCBI chr17:24,790,921...24,853,790
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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
G
MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:24917306
RGD:13441559
Ensembl chr16:30,489,362...30,498,017
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
PGR
progesterone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23200943
NCBI chr11:95,997,677...96,098,866
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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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TERT
telomerase reverse transcriptase
ISO
mRNA:increased expression:endometrium
RGD
PMID:11078809
RGD:2298562
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
G
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
G
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
G
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
G
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
G
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:18954143 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:25741868 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
DNA:hypermethylation: (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
G
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
G
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
G
CHEK2
checkpoint kinase 2
susceptibility
ISO
RGD
PMID:17164260
RGD:2293868
NCBI chr22:9,757,038...9,811,171
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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:9002682 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15523615 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18541976 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:24127277 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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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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MSLN
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
Ensembl chr16:777,146...783,449
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NKX2-1
NK2 homeobox 1
ISO
DNA:hypermethylation
RGD
PMID:17504987
RGD:2290483
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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) ClinVar Annotator: match by term: Endometrioid adenocarcinoma
RGD ClinVar
PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 PMID:25228659 PMID:26619011 PMID:28492532 PMID:29505428 More...
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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TMC6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482
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TMC8
transmembrane channel like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
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TNRC6C
trinucleotide repeat containing adaptor 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr17:72,035,737...72,185,489
Ensembl chr17:77,633,564...77,738,511
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TMC6
transmembrane channel like 6
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition
ClinVar OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482
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TMC8
transmembrane channel like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
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TMC6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482
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TMC8
transmembrane channel like 8
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar OMIM
PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
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CIB1
calcium and integrin binding 1
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
ClinVar OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr15:68,919,377...68,923,213
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RHOH
ras homolog family member H
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4
OMIM ClinVar
PMID:22850876 PMID:25741868 PMID:28492532
NCBI chr 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124
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IL7
interleukin 7
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5
OMIM ClinVar
PMID:25981006
NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918
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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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CHML
CHM like Rab escort protein
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:217,191,065...217,202,578
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CHRM3
cholinergic receptor muscarinic 3
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:214,931,514...215,452,739
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EXO1
exonuclease 1
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:217,410,175...217,451,982
Ensembl chr 1:222,389,684...222,431,556
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FH
fumarate hydratase
ISO
ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
OMIM ClinVar
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:10896297 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16199547 PMID:16237213 PMID:16309500 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16876016 PMID:16881969 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17908262 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18414213 PMID:18514489 PMID:19151755 PMID:19183174 PMID:19939761 PMID:19967458 PMID:20109171 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22677546 PMID:22703879 PMID:22764886 PMID:22982371 PMID:23203078 PMID:23211287 PMID:23612258 PMID:23707781 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25750977 PMID:25790038 PMID:25852058 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26113603 PMID:26173633 PMID:26237645 PMID:26296701 PMID:26323704 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26900816 PMID:26945337 PMID:27037871 PMID:27541980 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28592321 PMID:28747166 PMID:28748451 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29174943 PMID:29423582 PMID:29456767 PMID:29530542 PMID:29625052 PMID:29641532 PMID:29893455 PMID:29909963 PMID:29978187 PMID:30050099 PMID:30171332 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31162287 PMID:31299266 PMID:31444830 PMID:31524643 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 PMID:32154112 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33167498 PMID:33402335 PMID:33439686 PMID:33442023 PMID:33606809 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34604083 PMID:34643235 PMID:34654685 PMID:34994643 PMID:35163394 PMID:35216667 PMID:35251648 PMID:35441217 PMID:35626031 PMID:35806449 PMID:35874919 PMID:35993574 PMID:36315513 PMID:36451132 PMID:36773955 PMID:37053010 More...
NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
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FMN2
formin 2
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:215,626,889...216,023,590
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GREM2
gremlin 2, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:216,037,977...216,163,020
Ensembl chr 1:221,026,605...221,027,111
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KMO
kynurenine 3-monooxygenase
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866
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MAP1LC3C
microtubule associated protein 1 light chain 3 gamma
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:217,558,010...217,562,485
Ensembl chr 1:222,537,401...222,541,244
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OPN3
opsin 3
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:217,155,765...217,202,577
Ensembl chr 1:222,136,422...222,184,598
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PLD5
phospholipase D family member 5
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:217,640,005...218,081,158
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RGS7
regulator of G protein signaling 7
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:216,329,373...216,919,898
Ensembl chr 1:221,313,924...221,899,627
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RYR2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
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WDR64
WD repeat domain 64
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:217,214,176...217,364,983
Ensembl chr 1:222,194,990...222,344,758
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ZP4
zona pellucida glycoprotein 4
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr 1:213,435,888...213,444,439
Ensembl chr 1:218,428,967...218,442,383
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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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EFTUD2
elongation factor Tu GTP binding domain containing 2
ISO
protein:increased expression:trophoblast, decidua:
RGD
PMID:32447180
RGD:155791666
NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
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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:16199547 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 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:26544189 PMID:26956250 PMID:28166811 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:16199547 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:26544189 PMID:26956250 PMID:28166811 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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TOP6BL
TOP6B like initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4
OMIM ClinVar
PMID:25741868 PMID:30388401
Ensembl chr11:65,427,937...65,522,087
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ADAR
adenosine deaminase RNA specific
exacerbates
ISO
associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human)
RGD
PMID:31882741
RGD:125097510
NCBI chr 1:129,937,993...129,983,747
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CASP8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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CCNA1
cyclin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr13:17,649,064...17,660,550
Ensembl chr13:36,080,331...36,092,078
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CCNG1
cyclin G1
disease_progression
ISO
associated with cervix carcinoma; protein:increased expression:cervix (human)
RGD
PMID:16845792
RGD:2316022
NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728
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CD274
CD274 molecule
ISO
associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix associated with Cervix Neoplasms;protein:increased expression:uterine cervix
RGD
PMID:16406113 PMID:16415792
RGD:2296057 RGD:2296058
NCBI chr 9:21,803,862...21,831,322
G
EGFR
epidermal growth factor receptor
disease_progression
ISO
associated with squamous cell carcinoma
RGD
PMID:31430224
RGD:38599177
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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FGFR3
fibroblast growth factor receptor 3
ISO
associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human)
RGD
PMID:25056374
RGD:38500237
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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FOXP3
forkhead box P3
susceptibility
ISO
DNA:SNP::rs3761548(human)
RGD
PMID:31177386
RGD:38501104
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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GSTM1
glutathione S-transferase mu 1
ISO
DNA:deletion
RGD
PMID:16360200
RGD:2293831
Ensembl chr 1:127,979,238...128,010,411
G
IL1RL1
interleukin 1 receptor like 1
ISO
RGD
PMID:30935248
RGD:39938848
G
LOC100995226
HLA class II histocompatibility antigen, DP beta 1 chain
susceptibility
ISO
associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human)
RGD
PMID:17349874
RGD:150429811
NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
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MTHFR
methylenetetrahydrofolate reductase
no_association
ISO
DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:23444906
RGD:38501058
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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MX1
MX dynamin like GTPase 1
exacerbates
ISO
protein:increased expression:body wart (human)
RGD
PMID:28736973
RGD:126777683
NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019
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PTEN
phosphatase and tensin homolog
ISO
associated with tonsil cancer;protein:increased expression:tonsil (human) associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)
RGD
PMID:24616007 PMID:28945300
RGD:127285601 RGD:127285613
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
TLR3
toll like receptor 3
resistance
ISO
mRNA:increased expression:cervix epithelium (human)
RGD
PMID:20473890
RGD:5129102
NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
G
VAMP7
vesicle associated membrane protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr X:145,362,432...145,425,097
Ensembl chr X:155,257,185...155,320,215
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GPC3
glypican 3
ISO
protein:increased expression:placenta, trophoblast cells (human)
RGD
PMID:20868507
RGD:243065141
NCBI chr X:122,677,072...123,131,511
Ensembl chr X:132,979,612...133,432,441
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CD274
CD274 molecule
ISO
protein:increased expression: larynx
RGD
PMID:22322668
RGD:40822813
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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FOXP3
forkhead box P3
susceptibility
ISO
DNA:SNPs:promoter:rs5902434,rs2232365 (human)
RGD
PMID:28298239
RGD:38549360
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
G
IL32
interleukin 32
ISO
mRNA:decreased expression:blood serum (human)
RGD
PMID:24015634
RGD:150340746
NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
G
LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
severity
ISO
DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human) DNA:polymorphism: :HLA-DQB1*0602(human)
RGD
PMID:15336778 PMID:19861144
RGD:36174013 RGD:5147657
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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NLRP1
NLR family pyrin domain containing 1
ISO
ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital
ClinVar OMIM
PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767
NCBI chr17:5,562,129...5,667,765
Ensembl chr17:5,542,007...5,623,091
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PDCD1
programmed cell death 1
ISO
RGD
PMID:22322668
RGD:40822813
NCBI chr12:130,849,353...130,858,776
G
TAP1
transporter 1, ATP binding cassette subfamily B member
severity
ISO
DNA:polymorphism:cds:p.D637G(human)
RGD
PMID:14976605
RGD:5147844
NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10908253
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Rhabdomyoma
ClinVar
PMID:10205261 PMID:17304050 PMID:25741868 PMID:28492532 PMID:32211034 PMID:32313033 More...
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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CLU
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
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FGF10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706
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NRG1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
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TLR2
toll like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914
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AURKA
aurora kinase A
susceptibility
ISO
DNA:SNP:cds:p.F31I
RGD
PMID:17599395
RGD:2293873
NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:12068308 PMID:12198537 PMID:12960123 PMID:14679157 PMID:15035987 PMID:16187918 PMID:19206169 PMID:21639808 PMID:22048237 PMID:22495831 PMID:22663011 PMID:22972589 PMID:24033266 PMID:24451042 PMID:25157968 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 More...
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10398436 PMID:10435629 PMID:10655994 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:24788118 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26822237 More...
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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EBAG9
estrogen receptor binding site associated antigen 9
ISO
protein:increased expression:serum
RGD
PMID:16842844
RGD:2289849
NCBI chr 8:106,190,208...106,216,402
Ensembl chr 8:108,335,590...108,361,475
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:16397024 PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 PMID:28492532 More...
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
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:26619011
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
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FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:25741868 PMID:26619011
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
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:7719344 PMID:8651276 PMID:9002682 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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HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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KLK10
kallikrein related peptidase 10
ISO
mRNA, protein:increased expression:endometrium, serum
RGD
PMID:16647913
RGD:2314848
NCBI chr19:47,980,177...47,987,617
Ensembl chr19:56,869,530...56,876,649
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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L1CAM
L1 cell adhesion molecule
severity
ISO
protein:increased expression:uterus, serum (human)
RGD
PMID:13678974
RGD:6483445
NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228
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LETMD1
LETM1 domain containing 1
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:12879013
RGD:2314918
NCBI chr12:37,685,741...37,705,104
Ensembl chr12:38,597,728...38,609,810
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LOC100995589
uncharacterized LOC100995589
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:26619011
NCBI chr2A:15,923,366...15,926,680
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LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MAP2K1
mitogen-activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 PMID:22588879 PMID:23569304 PMID:24033266 PMID:24803665 PMID:25157968 PMID:25741868 PMID:26343583 PMID:26619011 PMID:27862862 PMID:28049852 PMID:28492532 PMID:32005694 PMID:32978145 More...
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
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MTOR
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 More...
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:26619011
NCBI chr2A:15,925,130...15,931,605
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:26619011
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 More...
NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
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
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:25157968 PMID:25741868 PMID:26619011
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
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080 More...
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
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PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 PMID:31687265 PMID:33106617 PMID:34930662 More...
NCBI chr19:49,133,295...49,169,447
Ensembl chr19:58,011,383...58,047,577
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27147599 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
RAC1
Rac family small GTPase 1
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:25056119 PMID:26619011
NCBI chr 7:7,039,379...7,068,866
G
RHEB
Ras homolog, mTORC1 binding
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:26619011
NCBI chr 7:143,054,747...143,108,011
G
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:25741868 PMID:26619011
NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961
G
SPOP
speckle type BTB/POZ protein
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:26619011
NCBI chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623
G
TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:6736287 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8336941 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9049183 PMID:9096669 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10366100 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12076704 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12672316 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18818522 PMID:18978813 PMID:19012332 PMID:19101993 PMID:19171880 PMID:19367569 PMID:19378321 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19913028 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20118236 PMID:20128691 PMID:20195489 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22553460 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23340422 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24256616 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24810334 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27077130 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29875428 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32885271 PMID:32906206 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33758026 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34805717 PMID:34994652 PMID:35820297 PMID:36219266 PMID:36988593 More...
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
G
U2AF1
U2 small nuclear RNA auxiliary factor 1
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011
NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086
G
XPO1
exportin 1
ISO
ClinVar Annotator: match by term: Malignant neoplasm of body of uterus
ClinVar
PMID:26619011
NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793
G
CDKN2A
cyclin dependent kinase inhibitor 2A
disease_progression
ISO
RGD
PMID:16803529
RGD:2296053
NCBI chr 9:21,803,862...21,831,322
G
ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
G
ERBB3
erb-b2 receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:26619011
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
G
FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
G
FGFR2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:7719344 PMID:8651276 PMID:9002682 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: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
G
HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%)
RGD
PMID:17367465
RGD:2292170
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
G
LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
G
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
G
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:19962457 PMID:25157968 PMID:26619011
NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
G
POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 PMID:25228659 PMID:26619011 PMID:28492532 More...
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
G
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 PMID:31687265 PMID:33106617 PMID:34930662 More...
NCBI chr19:49,133,295...49,169,447
Ensembl chr19:58,011,383...58,047,577
G
PROM1
prominin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21919130
NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454
G
PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27147599 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10366100 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14559903 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18818522 PMID:18989156 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20118236 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22553460 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22999923 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23334668 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24810334 PMID:24835218 PMID:25119136 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29076966 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30322717 PMID:30327374 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32885271 PMID:32888145 PMID:32906206 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33840814 PMID:34026625 PMID:34240179 PMID:34266904 PMID:34308366 PMID:34529667 PMID:34709361 PMID:34805717 PMID:34994652 PMID:35264596 PMID:35820297 PMID:35974385 PMID:36219266 PMID:36988593 More...
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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U2AF1
U2 small nuclear RNA auxiliary factor 1
ISO
ClinVar Annotator: match by term: Uterine carcinosarcoma
ClinVar
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011
NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086
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ADAM9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chr 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192
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AKT1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 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:25741868 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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APOBEC3B
apolipoprotein B mRNA editing enzyme catalytic subunit 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23852168
NCBI chr22:19,892,548...19,902,455
Ensembl chr22:37,711,588...37,721,265
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BIRC5
baculoviral IAP repeat containing 5
disease_progression
ISO
mRNA:increased expression:uterine cervix protein:increased expression:uterine cervix CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17364499 PMID:17877643 PMID:17890889 PMID:26432044
RGD:2293097 RGD:2293098 RGD:2293101
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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CA9
carbonic anhydrase 9
treatment
ISO
RGD
PMID:12687273 PMID:17308115
RGD:2293193 RGD:2293200
NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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CADM1
cell adhesion molecule 1
severity
ISO
DNA, mRNA:hypermethylation, decreased expression:cervix
RGD
PMID:15589594 PMID:17009984
RGD:2289089 RGD:2289090
NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324
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CASP8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17450141
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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CCND1
cyclin D1
onset
ISO
DNA:polymorphism: :870A>G CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18355450 PMID:26432044
RGD:2296033
NCBI chr11:64,737,006...64,750,353
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CCNE1
cyclin E1
disease_progression
ISO
protein:increased expression:cervix protein:increased expression:cervix, epithelial cell
RGD
PMID:16538218 PMID:17308103
RGD:2289265 RGD:2289268
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
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CCNG1
cyclin G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728
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CD44
CD44 molecule (IN blood group)
disease_progression
ISO
mRNA:splice variants:uterine cervix protein:decreased expression:uterine cervix
RGD
PMID:16998464 PMID:17464868
RGD:2289350 RGD:2289353
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, altered expression pattern:tumor:intense uniform staining of tumor cells vs heterogeneous staining of normal tissue and premalignant lesions
RGD
PMID:9358772
RGD:2293549
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
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
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
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:18299147
RGD:2296067
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
DNA:amplification associated with Papillomavirus Infections;protein:increased expression:cervix epithelium
RGD
PMID:11311493 PMID:18301453
RGD:2293574 RGD:2299057
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
ISO
protein:decreased expression:uterine cervix
RGD
PMID:18203777
RGD:2289651
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
disease_progression
ISO
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
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CDKN2A
cyclin dependent kinase inhibitor 2A
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16415792 PMID:17369842 PMID:17415114
RGD:2289676 RGD:2289678 RGD:2296057
NCBI chr 9:21,803,862...21,831,322
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CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
protein:increased expression:uterine cervix
RGD
PMID:17632454
RGD:2289695
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
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CHEK2
checkpoint kinase 2
ISO
RGD
PMID:18299147
RGD:2296067
NCBI chr22:9,757,038...9,811,171
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CLPTM1L
CLPTM1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
Ensembl chr 5:1,361,571...1,388,415
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CREBBP
CREB binding protein
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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CTNNA1
catenin alpha 1
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
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
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:9065403 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26822237 More...
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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CYLD
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29477382
NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629
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DNMT1
DNA methyltransferase 1
ISO
protein:increased expression
RGD
PMID:17196739
RGD:2301221
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
susceptibility
ISO
DNA:SNP: :46359C>T(human) mRNA:increased expression:uterine cervix:
RGD
PMID:22330137 PMID:23677709
RGD:9589114 RGD:9589117
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
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:uterine cervix
CTD RGD
PMID:17465227 PMID:18703609 PMID:20859196 PMID:21329967
RGD:2289947
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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EP300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar
PMID:26619011
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
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms protein:increased expression:uterine cervix
RGD ClinVar
PMID:16157365 PMID:16397024 PMID:17465227 PMID:22908275 PMID:23220880 PMID:25157968 PMID:26619011 More...
RGD:2289947 RGD:2298504
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
disease_progression
ISO
protein:increased expression:uterine cervix ClinVar Annotator: match by term: Neoplasm of uterine cervix
RGD ClinVar
PMID:17465227 PMID:26619011
RGD:2289947
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:uterine cervix
RGD
PMID:17465227
RGD:2289947
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20934765
NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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FANCF
FA complementation group F
ISO
DNA:hypermethylation:promoter
RGD
PMID:15126331
RGD:2290045
NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176
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FASLG
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar
PMID:25741868 PMID:26619011
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
ISO
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells
RGD
PMID:17306351
RGD:2289084
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
OMIM
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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FHIT
fragile histidine triad diadenosine triphosphatase
no_association
ISO
cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors mRNA:alternative form::all tumors examined had full-length transcripts despite LOH at 3p14 in 39%, frequency of minor transcripts the same in tumors and normal tissues associated with smoking; DNA:decreased expression,deletions,gene instability::frequency of genomic alterations significantly higher for smokers than nonsmokers (P<0.02)
RGD
PMID:9462708 PMID:16115913 PMID:17467893
RGD:2289871 RGD:2289874 RGD:2289906
NCBI chr 3:59,670,777...61,177,974
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FLT1
fms related receptor tyrosine kinase 1
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:17306351
RGD:2289084
NCBI chr13:9,584,850...9,779,542
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GNAS
GNAS complex locus
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:11093740 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17873334 PMID:20197676 PMID:21835143 PMID:23403822 PMID:23536913 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:26619011 PMID:27398169 PMID:27506760 PMID:28492532 PMID:30702195 More...
NCBI chr20:55,190,607...55,262,245
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GREP1
glycine rich extracellular protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34652879
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
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
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
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HDAC6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642
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HES1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25061499
NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
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HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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IGFBP3
insulin like growth factor binding protein 3
ISO
protein:decreased expression:serum:significantly decreased (p<0.001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD
PMID:14675666
RGD:2290021
NCBI chr 7:46,564,234...46,573,145
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JAK2
Janus kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27470402
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
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KDR
kinase insert domain receptor
disease_progression
ISO
RGD
PMID:11218896
RGD:2301761
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
DNA:point mutation:exon (human)
RGD
PMID:14984964
RGD:2314838
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LOC100995226
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817570
NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
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LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MAPK1
mitogen-activated protein kinase 1
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar
PMID:26619011
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MGP
matrix Gla protein
ISO
protein:increased expression:tumor, adjacent dysplastic cervical epithelium:7/8 (88%) cervical squamous cell carcinomas
RGD
PMID:17960611
RGD:2293584
NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523
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MLH1
mutL homolog 1
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
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:uterine cervix
RGD
PMID:16619570
RGD:2290402
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
protein:decreased expression:uterine cervix protein:increased expression:uterine cervix
RGD
PMID:15807307 PMID:17596548
RGD:2293504 RGD:2293515
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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MTOR
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 More...
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:26619011 PMID:29018201
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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NOTCH1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25061499
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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NOTCH2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25061499
NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
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PHB1
prohibitin 1
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
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PIAS3
protein inhibitor of activated STAT 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25061499
NCBI chr 1:121,900,224...121,911,513
Ensembl chr 1:113,758,691...113,768,714
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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POU4F1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21928122
NCBI chr13:59,821,614...59,829,671
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27147599 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
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
ISO
protein:increased expression:uterine cervix, epithelial cell
RGD
PMID:18565574
RGD:2299119
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RARB
retinoic acid receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17961338
NCBI chr 3:24,729,220...25,499,187
Ensembl chr 3:25,660,922...25,833,297
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:uterine cervix protein:altered localization, increased expression:nucleus, uterine cervix
RGD
PMID:16850495 PMID:17098279
RGD:2298756 RGD:2298759
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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SKP2
S-phase kinase associated protein 2
disease_progression
ISO
associated with Papillomavirus Infections DNA, mRNA:amplification, increased expression:uterine cervix
RGD
PMID:18559093 PMID:19094580
RGD:2302384 RGD:2315036
NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311
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SMAD4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar
PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:20301642 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:31837202 PMID:32300199 PMID:32573726 PMID:32944796 More...
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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ST14
ST14 transmembrane serine protease matriptase
severity
ISO
mRNA, protein:increased expression:uterine cervix
RGD
PMID:16021568
RGD:2315093
NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism protein:increased tyrosine phosphorylation:uterine cervix
CTD RGD
PMID:17311011 PMID:25061499
RGD:1643476
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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TERT
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:uterine cervix
CTD RGD
PMID:17644806 PMID:19151717
RGD:2291985
Ensembl chr 5:1,300,960...1,338,872
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THRB
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:9462708
RGD:2289906
NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:16736496 PMID:17976707
RGD:2290412 RGD:2290415
NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
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TOP2A
DNA topoisomerase II alpha
ISO
RGD
PMID:19347305
RGD:2315124
NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
PMID:1631151 PMID:7737263 PMID:8023157 PMID:8276238 PMID:8344492 PMID:8464896 PMID:8633021 PMID:9020384 PMID:9157982 PMID:9268986 PMID:9572492 PMID:10567903 PMID:10589545 PMID:10914716 PMID:11051239 PMID:11593407 PMID:11782540 PMID:11793474 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12826609 PMID:14673037 PMID:15825182 PMID:15925506 PMID:16288208 PMID:16337994 PMID:16818505 PMID:16861262 PMID:17606709 PMID:18555592 PMID:18818522 PMID:18989156 PMID:19367569 PMID:19681600 PMID:19834951 PMID:20128691 PMID:20407015 PMID:20878954 PMID:21115975 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22915647 PMID:22999923 PMID:23246812 PMID:23265383 PMID:23334668 PMID:24590827 PMID:25294809 PMID:25326637 PMID:25504633 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25927356 PMID:25952993 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26781615 PMID:27179933 PMID:27276561 PMID:27463065 PMID:27501770 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28160093 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:29470806 PMID:29753700 PMID:29979965 PMID:30224644 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31105275 PMID:32000721 PMID:32817165 PMID:33471991 PMID:34266904 PMID:34308366 PMID:34994652 PMID:35264596 More...
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TP73
tumor protein p73
disease_progression
ISO
mRNA, protein:splice variant, increased expression:uterine cervix mRNA:increased expression:uterine cervix protein:increased expression:uterine cervix
RGD
PMID:11870517 PMID:16818688 PMID:17504382
RGD:2290582 RGD:2290586 RGD:2290589
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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TSPAN1
tetraspanin 1
ISO
RGD
PMID:12115476
RGD:1331679
NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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U2AF1
U2 small nuclear RNA auxiliary factor 1
ISO
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011
NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086
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VEGFA
vascular endothelial growth factor A
disease_progression
ISO
protein:increased expression:uterine cervix CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19723043 PMID:19783962 PMID:26432044
RGD:2315454 RGD:2315456
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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WNT2
Wnt family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25061499
NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862
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WNT5A
Wnt family member 5A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25061499
NCBI chr 3:55,396,279...55,418,579
Ensembl chr 3:56,621,380...56,638,051
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XIAP
X-linked inhibitor of apoptosis
severity
ISO
protein:increased expression:uterine cervix
RGD
PMID:18325467
RGD:2315850
NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606
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YY1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21792014
NCBI chr14:80,859,491...80,903,651
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:2557216 PMID:11805335 PMID:15279808 PMID:16864838 PMID:19535770 PMID:19605768 PMID:21354641 PMID:21778326 PMID:21792198 PMID:21965147 PMID:22146522 PMID:22213089 PMID:25122203 PMID:25572163 PMID:25741868 PMID:25957637 PMID:25980754 PMID:26467025 PMID:26681312 PMID:26976419 PMID:28126470 PMID:28492532 PMID:28843361 PMID:29478780 PMID:29909963 PMID:30322717 PMID:30549301 PMID:30579816 PMID:30819809 PMID:31050087 PMID:32854451 PMID:32875559 PMID:33471991 PMID:34445196 More...
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:7894493 PMID:8807330 PMID:9667259 PMID:10811118 PMID:11157798 PMID:11739404 PMID:12400015 PMID:15024741 PMID:16267036 PMID:20104584 PMID:21203900 PMID:21922593 PMID:24504028 PMID:25741868 PMID:26467025 PMID:27469594 PMID:28492532 PMID:29446198 PMID:29681614 PMID:30209399 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: Uterine corpus cancer
ClinVar
PMID:8524414 PMID:8665505 PMID:9585613 PMID:9667259 PMID:11030418 PMID:11158174 PMID:11802209 PMID:12065746 PMID:12373604 PMID:12955716 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15689453 PMID:16115142 PMID:16825431 PMID:16912212 PMID:17100994 PMID:17513806 PMID:17924331 PMID:18465347 PMID:18703817 PMID:19043619 PMID:19241424 PMID:20104584 PMID:20736950 PMID:21138478 PMID:21203900 PMID:21324516 PMID:21520273 PMID:21598239 PMID:21719596 PMID:21952622 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22144684 PMID:22535016 PMID:22666503 PMID:22798144 PMID:22923021 PMID:22970155 PMID:23108138 PMID:23199084 PMID:23469205 PMID:23767878 PMID:23929434 PMID:24033266 PMID:24156927 PMID:24323938 PMID:24504028 PMID:24884479 PMID:25066507 PMID:25085752 PMID:25146914 PMID:25476495 PMID:25583207 PMID:25741868 PMID:25782689 PMID:26014432 PMID:26026974 PMID:26064523 PMID:26250392 PMID:26295337 PMID:26467025 PMID:26556299 PMID:26566862 PMID:26576347 PMID:26657402 PMID:26681312 PMID:26689913 PMID:26733283 PMID:26845104 PMID:27153395 PMID:27194814 PMID:27257965 PMID:27425403 PMID:27495310 PMID:27741520 PMID:27831900 PMID:28111427 PMID:28195393 PMID:28324225 PMID:28492532 PMID:28680148 PMID:28692638 PMID:28724667 PMID:28767289 PMID:28993434 PMID:29084914 PMID:29161300 PMID:29176636 PMID:29310832 PMID:29335924 PMID:29339979 PMID:29368341 PMID:29394989 PMID:29435039 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29492181 PMID:29566657 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29884841 PMID:29907814 PMID:29988080 PMID:30014164 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30199306 PMID:30217213 PMID:30257646 PMID:30287823 PMID:30322717 PMID:30350268 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30728895 PMID:30787465 PMID:30875412 PMID:31090900 PMID:31112363 PMID:31263054 PMID:31263571 PMID:31396961 PMID:31411802 PMID:31432501 PMID:31447099 PMID:31589614 PMID:31742824 PMID:31825140 PMID:31853058 PMID:31921681 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32039725 PMID:32098980 PMID:32101877 PMID:32132887 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32438681 PMID:32444794 PMID:32467295 PMID:32719484 PMID:32853339 PMID:32854451 PMID:32875559 PMID:32885271 PMID:33054725 PMID:33087929 PMID:33471991 PMID:33478551 PMID:33558524 PMID:33891299 PMID:33978741 PMID:34008015 PMID:34072659 PMID:34399810 PMID:34680878 PMID:34906479 PMID:35220195 PMID:36329109 PMID:36988593 More...
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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BRIP1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:16116423 PMID:17033622 PMID:21964575 PMID:24728327 PMID:25452441 PMID:25741868 PMID:25807282 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26845104 PMID:26921362 PMID:28492532 PMID:30254378 PMID:32295079 PMID:33471991 More...
NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
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C9H11orf65
chromosome 9 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:2557216 PMID:11805335 PMID:15279808 PMID:16864838 PMID:19535770 PMID:19605768 PMID:21354641 PMID:21778326 PMID:21792198 PMID:21965147 PMID:22146522 PMID:22213089 PMID:25122203 PMID:25572163 PMID:25741868 PMID:25957637 PMID:25980754 PMID:26467025 PMID:26681312 PMID:26976419 PMID:28126470 PMID:28492532 PMID:28843361 PMID:29478780 PMID:29909963 PMID:30322717 PMID:30549301 PMID:30579816 PMID:30819809 PMID:31050087 PMID:32854451 PMID:32875559 PMID:33471991 PMID:34445196 More...
NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
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CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:21876083 PMID:24713400 PMID:28492532
NCBI chr22:9,757,038...9,811,171
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:9634524 PMID:11859205 PMID:21642682 PMID:36988593
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:18269114 PMID:24362816 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 PMID:28492532 More...
NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:9256433 PMID:29706350
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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RAD51C
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Uterine corpus cancer
ClinVar
PMID:9536098 PMID:12966089 PMID:17576681 PMID:22538716 PMID:24139550 PMID:25085752 PMID:25741868 PMID:26057125 PMID:26467025 PMID:26681312 PMID:27616075 PMID:27621404 PMID:28492532 PMID:28905878 PMID:29255180 PMID:29978187 PMID:30086788 PMID:30257646 PMID:30374176 PMID:31843900 PMID:31882575 PMID:32295079 PMID:32854451 PMID:32957588 PMID:33333735 More...
NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
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ADA
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
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BET1L
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762
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COL4A1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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COL4A2
collagen type IV alpha 2 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
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COL6A3
collagen type VI alpha 3 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr2B:124,554,478...124,644,482
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DAPK1
death associated protein kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958
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DLX3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848
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FH
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
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GSTM5
glutathione S-transferase mu 5
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 1:112,356,184...112,361,731
Ensembl chr 1:127,979,238...128,010,411
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HMGA2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr12:22,954,946...23,096,623
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IRS1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
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MED12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942
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NUAK1
NUAK family kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163
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PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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TNRC6B
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914
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TSC2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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BCL2L1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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CXCR4
C-X-C motif chemokine receptor 4
ISO
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM ClinVar
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:34573280 PMID:35947323 PMID:36089616 More...
NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
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DARS1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr2B:23,876,931...23,956,032
Ensembl chr2B:139,977,483...140,056,836
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LCT
lactase
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr2B:24,025,383...24,079,779
Ensembl chr2B:139,855,605...139,908,764
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MCM6
minichromosome maintenance complex component 6
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr2B:23,986,278...24,023,045
Ensembl chr2B:139,911,909...139,947,687
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R3HDM1
R3H domain containing 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr2B:24,141,258...24,331,499
Ensembl chr2B:139,654,036...139,793,678
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RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
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UBXN4
UBX domain protein 4
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr2B:24,081,450...24,124,876
Ensembl chr2B:139,810,274...139,850,671
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ZRANB3
zinc finger RANBP2-type containing 3
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr2B:24,331,731...24,665,652
Ensembl chr2B:139,234,909...139,577,193
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