Female Genital Neoplasms - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	Female Genital Neoplasms	go back to main search page
Accession:	DOID:9007399	browse the term
Definition:	Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE).
Synonyms:	exact_synonym:	Female genital neoplasm; Gynecologic neoplasm; Gynecologic neoplasms
	primary_id:	MESH:D005833
	xref:	EFO:1001331

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Genes (956)

anogenital venereal wart

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

NCBI chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736

G

CD8 subunit alpha

mRNA:decreased expression:zone of skin (human)

NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885

G

cytotoxic T-lymphocyte associated protein 4

mRNA,protein:increased expression:multiple (human)

NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

forkhead box P3

mRNA,protein:increased expression:multiple (human)

NCBI chr X:46,349,890...46,365,133

G

interleukin 10

mRNA,protein:increased expression:multiple (human)

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 12B

treatment

protein:decreased expression:peripheral blood mononuclear cells (human)

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr23:61,714,293...61,731,835

G

interleukin 2

protein:decreased expression:peripheral blood mononuclear cells (human)

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 21

protein:decreased expression:blood serum (human)

NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025

G

interleukin 4

treatment

protein:increased expression:peripheral blood mononuclear cells (human)

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258

G

interleukin 6

protein:decreased expression:peripheral blood mononuclear cells (human)

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

mitogen-activated protein kinase 8

treatment

mRNA:increased expression:zone of skin (human)

NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425

G

MYD88 innate immune signal transduction adaptor

mRNA,protein:increased expression:multiple (human)

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

natural cytotoxicity triggering receptor 1

mRNA,protein:decreased expression:multiple (human)

NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961

G

programmed cell death 1

mRNA,protein:increased expression:multiple (human)

NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088

G

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545

G

serpin family F member 1

disease_progression

mRNA, protein:decreased expression:skin of body (human)

NCBI chr16:1,408,453...1,424,197

G

transforming growth factor beta 1

mRNA,protein:increased expression:multiple (human)

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

toll like receptor 2

mRNA,protein:increased expression:multiple (human)

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

toll like receptor 3

mRNA,protein:increased expression:multiple (human)

NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232

G

toll like receptor 4

mRNA,protein:increased expression:multiple (human)

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

toll like receptor 7

mRNA,protein:increased expression:multiple (human)

NCBI chr X:11,348,520...11,372,132

G

toll like receptor 8

mRNA,protein:increased expression:multiple (human)

NCBI chr X:11,387,933...11,405,056
Ensembl chr X:11,400,907...11,404,029

G

tumor necrosis factor

protein:increased expression:peripheral blood mononuclear cells (human)

G

TNF receptor superfamily member 18

mRNA,protein:increased expression:multiple (human)

NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251

bowenoid papulosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 2

mRNA:increased expression:perianal skin (human)

NCBI chr 1:93,721,449...93,746,638

G

baculoviral IAP repeat containing 3

mRNA:increased expression:perianal skin (human)

NCBI chr 1:93,692,239...93,711,905

cervical adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine peptidase inhibitor Kazal type 1

NCBI chr23:50,365,686...50,373,300
Ensembl chr23:50,365,269...50,372,814

G

trefoil factor 1

mRNA, protein:increased expression:uterine cervix

NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795

G

transferrin receptor

protein:increased expression:uterine cervix

NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584

G

tumor protein p53

disease_progression

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

cervical cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenin

protein:increased expression:serum

NCBI chr29:21,215,985...21,226,927

G

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:polymorphism: :p.D148E (human)

PMID:18503157 PMID:19292061

RGD:2315657 RGD:2315662

NCBI chr29:20,978,878...20,981,393

G

apoptosis inhibitor 5

disease_progression

mRNA:increased expression

NCBI chr 1:22,029,723...22,064,553
Ensembl chr 1:22,034,317...22,064,541

G

BCL2 like 1

protein:increased expression:uterine cervix

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

baculoviral IAP repeat containing 2

mRNA:decreased expression:uterine cervix

NCBI chr 1:93,721,449...93,746,638

G

BRCA1 DNA repair associated

disease_progression

DNA:hypermethylation:promoter

NCBI chr16:63,162,827...63,243,928

G

BRCA1 interacting DNA helicase 1

ClinVar Annotator: match by term: Cervical cancer

PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More...

NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587

G

basigin (Ok blood group)

disease_progression

NCBI chr 6:309,579...320,209
Ensembl chr 6:309,506...321,785

G

caspase 3

NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899

G

cyclin B1

mRNA, protein:increased expression:uterine cervix

NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085

G

CD55 molecule (Cromer blood group)

NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173

G

cell division cycle 25A

NCBI chr22:9,534,114...9,564,927
Ensembl chr22:9,534,053...9,564,741

G

cell division cycle 25C

NCBI chr23:40,960,154...41,013,016
Ensembl chr23:40,960,572...41,006,984

G

cadherin 13

DNA:hypermethylation:promoter

NCBI chr 5:68,048,655...69,213,102
Ensembl chr 5:68,451,894...69,211,534

G

cyclin dependent kinase 1

NCBI chr 9:70,475,736...70,492,947

G

estrogen receptor binding site associated antigen 9

disease_progression

protein:increased expression:uterine cervix

NCBI chr 8:104,240,197...104,266,768
Ensembl chr 8:104,251,418...104,264,703

G

erb-b2 receptor tyrosine kinase 4

protein:increased expression: uterine cervix, cytoplasm

NCBI chr10:97,099,090...98,281,697

G

FA complementation group A

no_association

DNA:SNP: :rs11649196 (human)
DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)

PMID:19012493 PMID:21543111

RGD:11344886 RGD:11344901

NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

heterogeneous nuclear ribonucleoprotein C

protein:increased expression:cervical epithelium (human)

NCBI chr29:21,677,871...21,737,607
Ensembl chr29:21,678,559...21,731,430

G

homeobox B13

mRNA:increased expression:uterine cervix

NCBI chr16:69,137,561...69,141,615
Ensembl chr16:69,137,585...69,139,382

G

heat shock protein family A (Hsp70) member 8

Protein: increased expression

NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562

G

interleukin 10

disease_progression

protein:increased expression:serum

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 1 beta

susceptibility

associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

lysine demethylase 3A

severity

human gene in a mouse model

NCBI chr14:20,668,215...20,721,854
Ensembl chr14:20,668,821...20,720,759

G

lysine methyltransferase 2A

human gene in a mouse model

NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113

G

lysine methyltransferase 2E (inactive)

human gene in a mouse model

NCBI chr21:73,930,957...74,030,434
Ensembl chr21:73,930,932...74,029,673

G

glutathione S-transferase Mu 1

susceptibility

NCBI chr20:23,854,969...23,861,634

G

MET transcriptional regulator MACC1

mRNA:increased expression:cervical region (human)

NCBI chr21:38,015,409...38,091,907

G

mitogen-activated protein kinase kinase 3

treatment

NCBI chr16:19,396,377...19,427,617
Ensembl chr16:19,396,452...19,427,652

G

mitogen-activated protein kinase kinase 6

NCBI chr16:52,045,398...52,188,416
Ensembl chr16:52,057,784...52,187,997

G

mediator of DNA damage checkpoint 1

mRNA, protein:increased expression:uterine cervix (human)

NCBI chr17:41,735,584...41,754,618
Ensembl chr17:41,739,419...41,755,141

G

mediator complex subunit 4

severity

mRNA:decreased expression:uterine cervix (human)

NCBI chr 3:25,990,203...26,009,472
Ensembl chr 3:25,990,159...26,009,438

G

major histocompatibility complex, class II, DP beta 1

susceptibility

DNA:polymorphism: :HLA-DPB1*1301 (human)

NCBI chr17:38,996,329...39,007,097

G

matrix metallopeptidase 1

disease_progression

DNA:insertion:promoter:g.-1607insG (human)

NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767

G

matrix metallopeptidase 13

mRNA:increased expression:uterine cervix

NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747

G

methylenetetrahydrofolate reductase

susceptibility

DNA:missense mutation:cds:g.1298A>C (human)

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

NADH:ubiquinone oxidoreductase subunit S6

disease_progression

DNA, mRNA:amplification, increased expression:uterine cervix

NCBI chr 4:1,643,810...1,658,651
Ensembl chr 4:1,643,822...1,658,858

G

NRAS proto-oncogene, GTPase

mRNA:increased expression:uterine cervix

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

phosphoglucomutase 3

NCBI chr13:7,841,724...7,871,013
Ensembl chr13:7,844,765...7,871,002

G

parkin RBR E3 ubiquitin protein ligase

disease_progression

protein:decreased expression:uterine cervix (human)

NCBI chr13:88,856,056...90,329,379

G

protein tyrosine kinase 2

disease_progression

NCBI chr 8:134,897,511...135,246,300

G

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545

G

Ras association domain family member 1

associated with Papillomavirus Infections;DNA:hypermethylation:promoter

NCBI chr22:11,716,969...11,728,646
Ensembl chr22:11,716,918...11,725,027

G

splicing factor 3b subunit 4

severity

mRNA, protein:increased expression:cervix (human)
human cells in mouse model

G

SMAD family member 2

DNA, mRNA:insertion, deletion, decreased expression:uterine cervix

NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606

G

SMAD family member 4

mRNA:decreased expression:uterine cervix

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

SOS Ras/Rac guanine nucleotide exchange factor 1

mRNA:increased expression:cervix epithelium (human)

NCBI chr14:68,259,509...68,404,167
Ensembl chr14:68,259,360...68,399,895

G

sperm associated antigen 5

severity

mRNA, protein:increased expression:cervix (human)

NCBI chr16:22,347,213...22,370,531
Ensembl chr16:22,346,701...22,369,915

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs: :

PMID:12648582 PMID:18248301

RGD:6482260 RGD:6482272

NCBI chr17:39,252,000...39,260,195

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs: :

PMID:12648582 PMID:18248301

RGD:6482260 RGD:6482272

NCBI chr17:39,266,870...39,277,658

G

TIMP metallopeptidase inhibitor 4

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600

G

tumor necrosis factor

susceptibility

DNA:polymorphism:promoter:-308G>A (human)

G

TNF receptor superfamily member 10a

NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673

G

tumor protein p53

ClinVar Annotator: match by term: Cervical cancer

PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 More...

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tumor protein p73

susceptibility

DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human)

NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691

G

X-ray repair cross complementing 1

DNA:polymorphism: :p.R194W

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

G

zinc finger homeobox 3

mRNA:increased expression:uterine cervix

NCBI chr 5:55,912,325...56,174,010
Ensembl chr 5:55,907,983...56,085,112

cervical mucinous adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine/threonine kinase 11

disease_progression

DNA:mutations

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

cervical squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase RNA specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329

G

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

NCBI chr 6:42,186,028...42,193,105

G

baculoviral IAP repeat containing 2

disease_progression

DNA, protein:amplification, increased expression:uterine cervix, nucleus

NCBI chr 1:93,721,449...93,746,638

G

BRCA1 interacting DNA helicase 1

severity

mRNA, protein:increased expression:uterine cervix, nucleus (human)

NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587

G

C-C motif chemokine ligand 22

severity

G

C-C motif chemokine receptor 4

severity

NCBI chr15:77,435,195...77,439,164
Ensembl chr15:77,437,265...77,438,347

G

CD82 molecule

protein:decreased expression:uterine cervix

NCBI chr 1:20,736,216...20,793,943
Ensembl chr 1:20,735,287...20,763,160

G

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304

G

fibroblast growth factor 7

cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

fibroblast growth factor receptor 3

no_association

DNA:missense mutation:cds: p.S249G (human)

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918

G

forkhead box P3

severity

NCBI chr X:46,349,890...46,365,133

G

podoplanin

disease_progression

NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311

G

SMAD family member 3

severity

NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471

G

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr11:45,976,689...46,001,021
Ensembl chr11:45,976,700...46,001,457

G

TNF receptor superfamily member 4

severity

NCBI chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313

G

TNF superfamily member 4

severity

NCBI chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374

G

tumor protein p53

disease_progression

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

thymidine phosphorylase

disease_progression

NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215

cervix carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:SNPs (human)

NCBI chr29:20,978,878...20,981,393

G

BAG cochaperone 1

protein:increased expression:uterine cervix

NCBI chr12:47,006,177...47,016,177

G

BCL2 antagonist/killer 1

DNA:missense mutations:exon:multiple (human)

NCBI chr17:38,492,776...38,502,534
Ensembl chr17:38,492,858...38,501,281

G

cyclin D3

NCBI chr17:30,107,236...30,228,449
Ensembl chr17:30,221,598...30,227,452

G

CD9 molecule

disease_progression

NCBI chr11:6,236,449...6,275,904
Ensembl chr11:6,236,494...6,275,909

G

EGF containing fibulin extracellular matrix protein 2

exacerbates

mRNA, protein:increased expression:cervix epithelium (human)

NCBI chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889

G

endoplasmic reticulum aminopeptidase 1

DNA:SNPs (human)

NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563

G

fibroblast growth factor receptor 3

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

PMID:10471491 PMID:11114733

RGD:2289864 RGD:2289865

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

glutathione S-transferase Mu 1

onset

associated with Papillomavirus Infections;DNA:deletion:cds (human)

NCBI chr20:23,854,969...23,861,634

G

O-6-methylguanine-DNA methyltransferase

DNA:polymorphisms:cds:p.I143V, p.K178R (human)

NCBI chr 9:122,089,768...122,376,320

G

prostaglandin-endoperoxide synthase 1

disease_progression

NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315

G

protein tyrosine kinase 2

protein:increased tyrosine phosphorylation:cervix

NCBI chr 8:134,897,511...135,246,300

G

secreted protein acidic and cysteine rich

DNA:hypermethylation

NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNP: :(rs4148876)(human)

NCBI chr17:39,266,870...39,277,658

G

thymidine kinase 1

protein:increased expression:serum (human)

NCBI chr16:70,186,103...70,200,689
Ensembl chr16:70,186,767...70,200,610

G

tumor susceptibility 101

mRNA:alternative forms:uterine cervix:multiple
mRNA:alternative form:uterine cervix

PMID:10505033 PMID:10600297

RGD:2291851 RGD:2291852

NCBI chr 1:46,401,889...46,451,122
Ensembl chr 1:46,402,024...46,450,916

cervix uteri carcinoma in situ

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 9

protein:increased expression:uterine cervix

NCBI chr 8:37,017,827...37,131,462
Ensembl chr 8:37,017,545...37,131,615

G

BCL2 apoptosis regulator

disease_progression

protein:increased expression:uterine cervix

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

BRCA1 DNA repair associated

DNA:deletions:exon

NCBI chr16:63,162,827...63,243,928

G

cell adhesion molecule 1

severity

NCBI chr 1:106,539,262...106,876,397
Ensembl chr 1:106,539,136...106,606,637

G

cyclin D1

protein:increased expression:uterine cervix

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin E1

protein:increased expression:uterine cervix

NCBI chr 6:24,879,923...24,888,985

G

CD274 molecule

severity

associated with Papillomavirus Infections; protein:increased expression:dendritic cell

NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806

G

CD46 molecule

protein:increased expression:uterine cervix

NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878

G

cyclin dependent kinase 4

disease_progression

associated with Papillomavirus Infections;protein:increased expression:cervix epithelium

NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:epithelial cell:

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

cyclin dependent kinase inhibitor 1B

disease_progression

associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium

NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531

G

colony stimulating factor 1 receptor

disease_progression

protein:increased expression:uterine cervix

NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304

G

catenin alpha 1

disease_progression

protein:decreased expression:uterine cervix

NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190

G

discs large MAGUK scaffold protein 1

protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis

NCBI chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652

G

Fas ligand

associated with Papillomavirus Infections

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

histone deacetylase 1

protein:increased expression:uterine cervix

NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556

G

histone deacetylase 2

protein:increased expression:uterine cervix

NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742

G

histone deacetylase 6

protein:increased expression:uterine cervix

NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929

G

insulin like growth factor binding protein 3

mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)

PMID:14675666 PMID:17709267

RGD:2290004 RGD:2290021

NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205

G

interleukin 1 beta

susceptibility

associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

cadherin-1

DNA:hypermethylation:uterine cervix

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

cyclin-G1

protein:increased expression:uterine cervix

NCBI chr23:65,709,759...65,716,913
Ensembl chr23:65,709,786...65,714,711

G

matrix Gla protein

NCBI chr11:14,776,668...14,780,796
Ensembl chr11:14,776,209...14,780,947

G

mutL homolog 1

protein:increased expression:uterine cervix

NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:uterine cervix

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

mutS homolog 2

protein:increased expression:uterine cervix

NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

programmed cell death 1

severity

associated with Papillomavirus Infections; protein:increased expression:T cell

NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088

G

prohibitin 1

protein:increased expression:uterine cervix

NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754

G

POU class 4 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:57,667,248...57,673,071

G

phosphatase and tensin homolog

protein:decreased expression:uterine cervix

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:uterine cervix, epithelial cell

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

RB transcriptional corepressor 1

associated with Adenocarcinoma

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

RELA proto-oncogene, NF-kB subunit

disease_progression

protein:altered localization, increased expression:nucleus, uterine cervix

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

S-phase kinase associated protein 2

severity

associated with Papillomavirus Infections

NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632

G

serine and arginine rich splicing factor 1

disease_progression

associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human)

NCBI chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982

G

signal transducer and activator of transcription 3

disease_progression

protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus

PMID:16005944 PMID:17110342

RGD:2291916 RGD:2298536

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

telomerase reverse transcriptase

disease_progression

protein:increased expression:uterine cervix

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

thyroid hormone receptor beta

DNA:loss of heterozygosity (human)

NCBI chr15:68,797,410...69,161,256
Ensembl chr15:68,802,078...68,902,292

G

DNA topoisomerase II alpha

NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701

G

tumor protein p63

disease_progression

NCBI chr15:83,861,489...84,126,675

G

tumor protein p73

disease_progression

mRNA:increased expression:uterine cervix

NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691

G

vascular endothelial growth factor A

protein:increased expression:uterine cervix

NCBI chr17:28,377,959...28,394,508

G

X-linked inhibitor of apoptosis

protein:increased expression:uterine cervix

choriocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

G

insulin like growth factor 2

disease_progression

protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388

G

insulin receptor

disease_progression

protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

G

TIMP metallopeptidase inhibitor 3

DNA, protein:hypermethylation, decreased expression:promoter, placenta

NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449

dermoid cyst of ovary

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O3

OMIM:166950

NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725

dysgerminoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone receptor type 2

protein:increased expression:ovary

NCBI chr11:49,524,864...49,534,774
Ensembl chr11:49,525,641...49,534,712

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Dysgerminoma

PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More...

NCBI chr16:63,162,827...63,243,928

G

fibroblast growth factor receptor 2

associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

inhibin subunit alpha

protein:increased expression:tumor

NCBI chr10:105,467,575...105,471,388
Ensembl chr10:105,467,963...105,471,688

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Dysgerminoma

PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More...

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

G

POU class 5 homeobox 1

NCBI chr17:41,306,523...41,313,065

G

SET nuclear proto-oncogene

ClinVar Annotator: match by term: Dysgerminoma

NCBI chr12:9,446,265...9,453,991

G

ST14 transmembrane serine protease matriptase

protein:increased expression:ovary

NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007

endometrial adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 1

protein:increased expression:endometrium epithelium

NCBI chr 8:102,020,346...102,268,443

G

angiopoietin 2

protein:increased expression:endometrium epithelium

NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729

G

AT-rich interaction domain 1A

treatment

human cell in mouse model

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

axin 2

NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281

G

Bet1 golgi vesicular membrane trafficking protein like

disease_progression

NCBI chr 1:14,423...18,444
Ensembl chr 1:15,562...17,569

G

CD55 molecule (Cromer blood group)

NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173

G

estrogen receptor binding site associated antigen 9

protein:increased expression:endometrium

NCBI chr 8:104,240,197...104,266,768
Ensembl chr 8:104,251,418...104,264,703

G

forkhead box O3

severity

associated with Obesity;protein:decreased expression:endometrium (human)

NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725

G

glutathione peroxidase 3

mRNA:decreased expression:endometrium (rat)

NCBI chr23:53,576,950...53,585,321

G

interferon regulatory factor 1

DNA:deletions (rat)

NCBI chr23:35,309,058...35,317,765
Ensembl chr23:35,307,772...35,316,763

G

Jun proto-oncogene, AP-1 transcription factor subunit

no_association

protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade

NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546

G

KRAS proto-oncogene, GTPase

DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat)

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

mitogen-activated protein kinase 1

treatment

protein:decreased phosphorylation:endometrium (human)
human tumor in a mouse model

PMID:14760076 PMID:23402905

RGD:13703125 RGD:13703137

NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325

G

mitogen-activated protein kinase 3

treatment

human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)

PMID:14760076 PMID:23402905

RGD:13703125 RGD:13703137

NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461

G

programmed cell death 10

disease_progression

protein:increased expression:endometrium (human)

NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519

G

phosphatase and tensin homolog

ameliorates

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin E synthase

protein:increased expression:endometrium

NCBI chr12:8,393,462...8,408,441
Ensembl chr12:8,393,550...8,408,435

G

ribonucleotide reductase regulatory subunit M2

DNA:amplification (rat)

NCBI chr14:97,512,690...97,519,734
Ensembl chr14:97,512,832...97,521,932

G

transforming growth factor beta receptor 3

mRNA:decreased expression:endometrium

NCBI chr20:41,353,182...41,565,357
Ensembl chr20:41,353,325...41,565,343

G

tumor protein p53

disease_progression

DNA:missense mutations
protein:increased expression:endometrium

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tumor susceptibility 101

mRNA:alternative forms

NCBI chr 1:46,401,889...46,451,122
Ensembl chr 1:46,402,024...46,450,916

endometrial cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 3

susceptibility

associated with Obesity;DNA:polymorphism: :p.W64R (human)

NCBI chr 8:35,993,553...35,998,200
Ensembl chr 8:35,994,775...35,997,060

G

alpha fetoprotein

severity

protein:increased expression:serum

NCBI chr 7:21,904,225...21,924,105
Ensembl chr 7:21,905,154...21,924,092

G

AKT serine/threonine kinase 2

severity

DNA:snp:intron:c.287+993G>A (rs892119) (human)

NCBI chr 6:34,688,585...34,740,458
Ensembl chr 6:34,690,462...34,720,781

G

angiogenin

protein:increased expression:serum

NCBI chr29:21,215,985...21,226,927

G

APC regulator of WNT signaling pathway

severity
treatment

DNA:mutations, haplotype:cds:multiple (human)
protein:increased expression:endometrium (human)
human cells in a mouse model
with Pten knockout

PMID:15951972 PMID:22907428 PMID:23288720 PMID:29876005

RGD:13524585 RGD:13524624 RGD:13673916 RGD:13673917

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human)

NCBI chr29:20,978,878...20,981,393

G

androgen receptor

NCBI chr X:57,380,587...57,553,613
Ensembl chr X:57,380,611...57,546,776

G

AT-rich interaction domain 1A

onset

protein:decreased expression:endometrium (human)

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

ATM serine/threonine kinase

susceptibility

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

BCL2 associated agonist of cell death

disease progression

protein:altered expression:endometrium (human)

NCBI chr 1:9,949,717...9,964,433
Ensembl chr 1:9,949,762...9,964,432

G

BAG cochaperone 1

protein:increased expression:endometrium

NCBI chr12:47,006,177...47,016,177

G

BCL2 like 1

protein:increased expression:endometrium

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

BRCA2 DNA repair associated

DNA:deletion, frameshift mutation

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

bone marrow stromal cell antigen 2

treatment

protein:increased expression:endometrium:

PMID:22729361 PMID:26498112

RGD:14398492 RGD:14398498

NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060

G

CD59 molecule (CD59 blood group)

protein:increased expression:endometrium

NCBI chr 1:31,547,876...31,571,720
Ensembl chr 1:31,547,937...31,570,835

G

CD9 molecule

NCBI chr11:6,236,449...6,275,904
Ensembl chr11:6,236,494...6,275,909

G

cell division cycle 25B

NCBI chr 2:34,482,709...34,493,737
Ensembl chr 2:34,483,771...34,494,071

G

cell division cycle 25C

DNA:mutation (human)

NCBI chr23:40,960,154...41,013,016
Ensembl chr23:40,960,572...41,006,984

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566

G

catechol-O-methyltransferase

no_association
susceptibility

DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter

PMID:12810635 PMID:15285606 PMID:17442187

RGD:2289714 RGD:2289721 RGD:2289723

NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422

G

cytochrome P450 family 19 subfamily A member 1

DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004)

NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277

G

cytochrome P450 family 1 subfamily A member 1

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)

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 1 subfamily A member 2

DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002)

NCBI chr26:8,727,996...8,733,254

G

dihydrofolate reductase

ClinVar Annotator: match by term: MSH3-related condition

PMID:25741868 PMID:26467025 PMID:28492532 PMID:29641532 PMID:36652909

NCBI chr 4:74,787,292...74,811,196
Ensembl chr 4:74,787,629...74,810,960

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
ameliorates

protein:decreased expression:endometrium (human)
human EFEMP2 knockdown cell line in a mouse model

NCBI chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889

G

epidermal growth factor

severity

DNA:snps:5'utr:multiple (human)

NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516

G

ERBB receptor feedback inhibitor 1

OMIM:608089

NCBI chr20:123,738,971...123,753,575
Ensembl chr20:123,738,973...123,755,809

G

fibroblast growth factor 1

disease_progression

mRNA:increased expression:myometrium

NCBI chr23:45,220,827...45,328,387
Ensembl chr23:45,220,800...45,328,328

G

fibroblast growth factor 2

disease_progression

mRNA, protein:increased expression:myometrium

NCBI chr 7:70,089,394...70,157,423

G

growth hormone releasing hormone

mRNA:increased expression:tumor:expression in 17/22 specimens

PMID:10022420 PMID:15784701

RGD:2289974 RGD:2301423

NCBI chr 2:26,482,734...26,493,761
Ensembl chr 2:26,487,973...26,493,499

G

homeobox B13

NCBI chr16:69,137,561...69,141,615
Ensembl chr16:69,137,585...69,139,382

G

HtrA serine peptidase 2

protein:decreased expression:endometrium (human)

NCBI chr14:32,745,436...32,749,176
Ensembl chr14:32,743,708...32,748,577

G

interleukin 10

protein:increased expression:serum

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

Janus kinase 1

severity

DNA:frameshift mutations

NCBI chr20:68,122,134...68,253,361
Ensembl chr20:68,122,173...68,252,042

G

junction plakoglobin

protein:decreased expression:endometrium

NCBI chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322

G

cadherin-1

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

lymphotoxin alpha

susceptibility

DNA:polymorphism: :252A>G, 804C>A (human)

G

microcephalin 1

DNA:deletions:exons:multiple (human)

NCBI chr 8:6,190,272...6,425,683
Ensembl chr 8:6,190,047...6,425,131

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial cancer

PMID:12702580 PMID:28195393 PMID:28492532 PMID:31297992

NCBI chr24:52,231,468...52,266,179

G

matrix metallopeptidase 7

disease_progression

protein:increased expression:endometrium

NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587

G

MRE11 homolog, double strand break repair nuclease

DNA:deletions:intron:IVS4_delT (human)

NCBI chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269

G

mutS homolog 3

ClinVar Annotator: match by term: MSH3-related condition

PMID:2635641 PMID:8782829 PMID:11470537 PMID:20981092 PMID:21128252 More...

NCBI chr 4:74,811,181...75,032,067
Ensembl chr 4:74,811,198...75,032,005

G

mutS homolog 6

NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial cancer, somatic

PMID:2914711 PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 More...

NCBI chr20:87,449,480...87,462,329
Ensembl chr20:87,448,986...87,462,265

G

notch receptor 1

mRNA:increased expression:endometrium

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

notch receptor 4

mRNA:decreased expression:endometrium

NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365

G

phosphoglucomutase 1

NCBI chr20:69,391,487...69,495,156
Ensembl chr20:69,428,996...69,466,191

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

onset

mRNA:increased expression:endometrium (human)

NCBI chr15:51,705,585...51,885,848
Ensembl chr15:51,775,733...51,889,238

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519

G

DNA polymerase epsilon, catalytic subunit

ameliorates
onset
disease_progression

DNA:missense mutations:multiple (human)
DNA:polymorphisms:multiple (human)
protein:increased expression:endometrium (human)
DNA:missense mutations:CDS:p.P286R, p.V411L (human)

PMID:25224212 PMID:29559562 PMID:29659608 PMID:31866764

RGD:151347644 RGD:151347645 RGD:151347650 RGD:151347857

NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292

G

phosphatase and tensin homolog

OMIM:608089

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

RAD21 cohesin complex component

onset

DNA:CNV: (human)

NCBI chr 8:111,486,356...111,515,641
Ensembl chr 8:111,486,048...111,507,729

G

ring finger protein 43

DNA:mutations:multiple: (human)

NCBI chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107

G

sex hormone binding globulin

DNA:polymorphism:exon:p.D327N (human)

NCBI chr16:7,002,380...7,012,170
Ensembl chr16:7,008,682...7,012,764

G

SMAD family member 2

protein:increased expression:endometrium

NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606

G

SMAD family member 3

protein:increased expression:endometrium

NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527

G

SMAD family member 7

disease_progression

mRNA:increased expression:endometrium

NCBI chr18:31,993,543...32,024,088
Ensembl chr18:31,993,681...32,024,850

G

suppressor of cytokine signaling 2

DNA:hypermethylated

NCBI chr11:88,964,805...88,971,147
Ensembl chr11:88,966,940...88,971,515

G

sperm associated antigen 9

protein:increased expression:serum:

NCBI chr16:42,224,565...42,384,160
Ensembl chr16:42,224,697...42,384,749

G

serine/threonine kinase 11

OMIM:608089

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

sulfotransferase family 1E member 1

DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT)

NCBI chr 7:18,313,510...18,330,768
Ensembl chr 7:18,313,238...18,330,741

G

trefoil factor 1

mRNA, protein:increased expression:endometrium

NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795

G

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:endometrium

NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600

G

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902

G

TNF receptor superfamily member 1B

protein:increased expression:serum (human)

NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497

G

tumor protein p53

OMIM:608089

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

thymidine phosphorylase

NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215

G

WT1 transcription factor

disease_progression

NCBI chr 1:32,750,300...32,801,832

endometrial carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

onset

DNA:hypermethylation:promoter: (human)
ClinVar Annotator: match by term: Endometrial carcinoma

PMID:19900189 PMID:25741868 PMID:28492532 PMID:32885271

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

apoptosis resistant E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532

NCBI chr24:51,877,074...51,928,042

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:133608 PMID:1300551 PMID:8845835 PMID:8968760 PMID:10425038 More...

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

aurora kinase A

mRNA, protein:increased expression:endometrium

NCBI chr 2:7,730,060...7,753,167
Ensembl chr 2:7,734,128...7,752,395

G

aurora kinase B

disease_progression

mRNA, protein:increased expression:endometrium

NCBI chr16:7,571,255...7,583,034
Ensembl chr16:7,570,538...7,582,959

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:20077502 PMID:21344236 PMID:25330149 PMID:25741868 PMID:25980754 More...

NCBI chr10:100,539,827...100,627,718
Ensembl chr10:100,539,527...100,627,675

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr21:109,495,525...109,690,261

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:7545954 PMID:7581445 PMID:7837387 PMID:7894492 PMID:8531967 More...

NCBI chr16:63,162,827...63,243,928

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:8075631 PMID:8524414 PMID:8673091 PMID:8673092 PMID:8758903 More...

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

BRICHOS domain containing 5

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,105,125...2,107,353
Ensembl chr 5:2,105,235...2,106,695

G

basigin (Ok blood group)

disease_progression

protein:increased expression:endometrium

NCBI chr 6:309,579...320,209
Ensembl chr 6:309,506...321,785

G

CASK interacting protein 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,071,884...2,091,539
Ensembl chr 5:2,073,253...2,091,346

G

cyclin B1

NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085

G

CD82 molecule

disease_progression

NCBI chr 1:20,736,216...20,793,943
Ensembl chr 1:20,735,287...20,763,160

G

cadherin 13

disease_progression

DNA:hypomethylation

NCBI chr 5:68,048,655...69,213,102
Ensembl chr 5:68,451,894...69,211,534

G

checkpoint kinase 2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:9536098 PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 More...

NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792

G

chromosome unknown C11orf65 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25085752 More...

NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182

G

dihydrofolate reductase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:9536098 PMID:17576681 PMID:20154325 PMID:25741868 PMID:26467025 More...

NCBI chr 4:74,787,292...74,811,196
Ensembl chr 4:74,787,629...74,810,960

G

deoxyribonuclease 1 like 2

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,130,879...2,133,817
Ensembl chr 5:2,131,854...2,133,524

G

E4F transcription factor 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,117,936...2,130,787
Ensembl chr 5:2,117,479...2,130,623

G

enoyl-CoA delta isomerase 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,135,042...2,147,246
Ensembl chr 5:2,135,129...2,147,109

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

endoplasmic reticulum aminopeptidase 1

disease_progression

NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563

G

fibroblast growth factor 7

mRNA:decreased expression:endometrium

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:7719344 PMID:8651276 PMID:8696350 PMID:9002682 PMID:9462761 More...

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

growth factor receptor bound protein 2

severity

Shc-Grb2 complex;protein:increased expression:serum (human)

NCBI chr16:46,264,818...46,346,426
Ensembl chr16:46,264,825...46,347,156

G

glycogen synthase kinase 3 beta

severity

protein:increased expression:endometrium (human)

NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239

G

histone deacetylase 3

disease_progression

NCBI chr23:44,246,296...44,263,127

G

HRas proto-oncogene, GTPase

disease_progression

DNA:snps:cds: (human)
protein:increased expression:endometrial stroma, cytoplasm (human)

PMID:8960147 PMID:9641239

RGD:13441555 RGD:13781876

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

Jun proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027)

NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546

G

KiSS-1 metastasis suppressor

disease_progression

mRNA:decreased expression:endometrium

NCBI chr25:25,151,642...25,159,723

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:16474405 More...

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

ATP-binding cassette sub-family A member 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,171,487...2,218,851

G

cadherin-1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More...

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

mismatch repair endonuclease PMS2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 More...

NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852

G

mitogen-activated protein kinase 1

severity

protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)

PMID:22459351 PMID:29081408

RGD:13441552 RGD:13702082

NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325

G

mitogen-activated protein kinase 3

severity

protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)

PMID:22459351 PMID:29081408

RGD:13441552 RGD:13702082

NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461

G

mutL homolog 1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:1756143 PMID:7728749 PMID:8566964 PMID:8571956 PMID:8574961 More...

NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 More...

NCBI chr24:52,231,468...52,266,179

G

MTOR associated protein, LST8 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,101,044...2,105,272
Ensembl chr 5:2,101,891...2,105,739

G

matrix metallopeptidase 8

NCBI chr 1:94,097,620...94,110,114
Ensembl chr 1:94,097,896...94,109,432

G

matrix metallopeptidase 9

disease_progression

protein:increased expression:endometrium

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

mutS homolog 2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:1586275 PMID:7585065 PMID:8640829 PMID:9222765 PMID:9536098 More...

NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819

G

mutS homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:2635641 PMID:8782829 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr 4:74,811,181...75,032,067
Ensembl chr 4:74,811,198...75,032,005

G

mutS homolog 6

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:183784 PMID:183865 PMID:216699 PMID:503524 PMID:580154 More...

NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:11818965 PMID:12606733 PMID:15987719 PMID:16140997 PMID:16338133 More...

NCBI chr20:87,449,480...87,462,329
Ensembl chr20:87,448,986...87,462,265

G

nuclear receptor coactivator 1

mRNA:increased expression:endometrium

NCBI chr14:82,898,368...83,028,137
Ensembl chr14:82,897,348...83,013,589

G

nuclear receptor corepressor 2

mRNA:increased expression:endometrium

NCBI chr11:119,675,363...119,917,059
Ensembl chr11:119,676,345...119,917,000

G

nitric oxide synthase 3

disease_progression

protein:increased expression:endometrium

NCBI chr21:119,174,829...119,196,840

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:17200668 PMID:20091115 PMID:21285249 PMID:21365267 PMID:22241545 More...

NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198

G

phosphoglycolate phosphatase

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,107,850...2,110,657
Ensembl chr 5:2,106,451...2,110,657

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532

NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292

G

protein kinase C alpha

NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:1945792 PMID:7728760 PMID:8980400 PMID:9259288 PMID:9326929 More...

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin-endoperoxide synthase 1

disease_progression

NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315

G

protein tyrosine kinase 2

severity

protein:increased expression:endometrium

NCBI chr 8:134,897,511...135,246,300

G

RAB26, member RAS oncogene family

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,041,871...2,049,623
Ensembl chr 5:2,043,829...2,049,836

G

RAD51 paralog C

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:20400964 PMID:21990120 PMID:24800917 PMID:25741868 PMID:26681312 More...

NCBI chr16:34,666,934...34,708,479
Ensembl chr16:34,666,162...34,708,457

G

Ras association domain family member 1

DNA, protein:hypermethylation, decreased expression:promoter,

NCBI chr22:11,716,969...11,728,646
Ensembl chr22:11,716,918...11,725,027

G

RNA binding protein with serine rich domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,148,929...2,163,810

G

RUNX family transcription factor 3

DNA:promoter:hypermethylated

NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307

G

stratifin

NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720

G

SMAD family member 4

severity

DNA:substitutions:promoter
mRNA:decreased expression:endometrium

PMID:10331746 PMID:15385128

RGD:2299966 RGD:2300009

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

secreted protein acidic and cysteine rich

DNA, mRNA, protein:hypermethylation, altered expression

NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr27:47,021,970...47,045,571
Ensembl chr27:47,021,965...47,045,223

G

trefoil factor 1

disease_progression

protein:increased expression:endometrium

NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795

G

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:endometrium

G

TIMP metallopeptidase inhibitor 2

disease_progression

mRNA:decreased expression:endometrium

NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471

G

TIMP metallopeptidase inhibitor 4

disease_progression

protein:increased expression:endometrium

NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600

G

tumor protein p53

severity

protein:increased expression:epithelial cell, endometrium
ClinVar Annotator: match by term: Endometrial carcinoma

PMID:18431720 PMID:25741868 PMID:28492532

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

TNF receptor associated factor 7

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:2,051,247...2,072,763
Ensembl chr 5:2,059,349...2,071,297

G

TSC complex subunit 2

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682

G

Wnt family member 2

mRNA:decreased expression:endometrium

NCBI chr21:85,955,517...86,005,664
Ensembl chr21:85,955,145...86,001,730

G

Wnt family member 3

mRNA:decreased expression:tumor:vs normal endometrium

NCBI chr16:60,472,723...60,527,664

G

Wnt family member 4

mRNA:decreased expression:tumor:vs normal endometrium

NCBI chr20:110,517,391...110,543,802
Ensembl chr20:110,517,564...110,541,203

G

Wnt family member 5A

mRNA:decreased expression:tumor:vs normal endometrium

NCBI chr22:16,809,454...16,836,815
Ensembl chr22:16,809,451...16,825,048

endometrial hyperplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

protein:increased expression:endometrium

NCBI chr16:70,226,824...70,237,000

G

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831

G

cell division cycle 25B

protein:increased expression:endometrium

NCBI chr 2:34,482,709...34,493,737
Ensembl chr 2:34,483,771...34,494,071

G

cell division cycle 25C

NCBI chr23:40,960,154...41,013,016
Ensembl chr23:40,960,572...41,006,984

G

cyclin dependent kinase inhibitor 1C

CTD Direct Evidence: marker/mechanism

NCBI chr 1:2,696,382...2,699,054
Ensembl chr 1:2,696,233...2,699,028

G

cadherin EGF LAG seven-pass G-type receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:24,270,963...24,296,263
Ensembl chr20:24,270,952...24,296,647

G

cysteine and glycine rich protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:27,908,426...27,932,107
Ensembl chr25:27,908,554...27,933,275

G

DEAD-box helicase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:92,007,446...92,045,414
Ensembl chr14:92,007,036...92,045,190

G

junction plakoglobin

protein:decreased expression:endometrium

NCBI chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322

G

KRAS proto-oncogene, GTPase

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

matrix metallopeptidase 7

protein:increased expression:endometrium

NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

protein tyrosine kinase 2

protein:increased expression:endometrium

NCBI chr 8:134,897,511...135,246,300

G

S-phase kinase associated protein 2

associated with Endometrial Neoplasms;protein:increased expression:endometrium

NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632

G

trefoil factor 1

protein:increased expression:endometrium

NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795

Endometrial Hyperplasia without Atypia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial hyperplasia without atypia

PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More...

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

Endometrial Intraepithelial Neoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More...

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

catenin beta 1

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More...

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More...

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

tumor protein p53

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

Endometrial Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

CTD Direct Evidence: marker/mechanism

NCBI chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263

G

anti-Mullerian hormone receptor type 2

protein:increased expression:endometrium

NCBI chr11:49,524,864...49,534,774
Ensembl chr11:49,525,641...49,534,712

G

APC regulator of WNT signaling pathway

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

BCL2 apoptosis regulator

severity

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

baculoviral IAP repeat containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:70,226,824...70,237,000

G

calbindin 2

protein:decreased expression:endometrium

NCBI chr 5:54,503,635...54,538,304
Ensembl chr 5:54,504,082...54,538,441

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

CD44 molecule (IN blood group)

disease_progression

protein:decreased expression:endometrium
mRNA, protein:splice variant, increased expression:endometrium

PMID:14658589 PMID:16308159

RGD:2289358 RGD:2296044

NCBI chr 1:30,039,854...30,132,646
Ensembl chr 1:30,039,749...30,132,416

G

CD46 molecule

protein:increased expression:tumor:versus benign endometrium (p<0.0001)

NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878

G

cyclin dependent kinase 2

disease_progression

protein:increased expression:endometrium

NCBI chr11:51,905,085...51,910,209
Ensembl chr11:51,905,115...51,909,907

G

cyclin dependent kinase 4

disease_progression

protein:increased expression:endometrium

NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861

G

cyclin dependent kinase inhibitor 1A

susceptibility

DNA:polymorphism:cds:p.S31R
protein:increased expression:endometrium

PMID:15099969 PMID:16837908

RGD:2289683 RGD:2296047

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

cyclin dependent kinase inhibitor 1B

protein:decreased expression:endometrium

NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531

G

cyclin dependent kinase inhibitor 1C

CTD Direct Evidence: marker/mechanism

NCBI chr 1:2,696,382...2,699,054
Ensembl chr 1:2,696,233...2,699,028

G

chromodomain helicase DNA binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:6,603,820...6,641,278
Ensembl chr11:6,602,694...6,640,351

G

checkpoint with forkhead and ring finger domains

CTD Direct Evidence: marker/mechanism

NCBI chr11:128,175,768...128,207,710
Ensembl chr11:128,175,515...128,207,443

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

PMID:29805589 PMID:32751388

NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:108,777,793...108,815,738
Ensembl chr20:108,813,579...108,814,661

G

catenin alpha 1

disease_progression

NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190

G

catenin beta 1

disease_progression

protein:increased expression:nucleus

PMID:16803534 PMID:17349568

RGD:2289828 RGD:2298485

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

cytochrome P450 family 11 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:9,122,008...9,151,844

G

decorin

CTD Direct Evidence: marker/mechanism

NCBI chr11:86,552,392...86,590,229
Ensembl chr11:86,551,072...86,586,891

G

DNA methyltransferase 1

mRNA,protein:decreased expression:uterus:

NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607

G

DNA methyltransferase 3 beta

mRNA,protein:decreased expression:uterus:

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

epidermal growth factor

severity

protein:increased expression:plasma (human)

NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979

G

erb-b2 receptor tyrosine kinase 2

severity
disease_progression

DNA:amplification

PMID:17945336 PMID:18202752

RGD:2298490 RGD:2298491

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

G

erb-b2 receptor tyrosine kinase 3

protein:increased expression:endometrium

NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028

G

erb-b2 receptor tyrosine kinase 4

protein:increased expression:endometrium

NCBI chr10:97,099,090...98,281,697

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:polymorphism:exon:p.R156R(human)

NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084

G

fibroblast growth factor receptor 2

susceptibility

DNA:SNP
ClinVar Annotator: match by term: Endometrial neoplasm

PMID:7719344 PMID:8651276 PMID:8696350 PMID:9002682 PMID:9462761 More...

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

fragile histidine triad diadenosine triphosphatase

protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators

NCBI chr22:21,006,010...22,474,056

G

fms related receptor tyrosine kinase 1

severity
disease_progression

mRNA, protein:increased expression:endometrium

PMID:10831352 PMID:12485477

RGD:2301252 RGD:2301256

NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967

G

glycogen synthase kinase 3 beta

treatment

human cells in a mouse xenograft model

NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239

G

histone deacetylase 1

disease_progression

NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556

G

histone deacetylase 2

disease_progression

NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742

G

homeobox A10

CTD Direct Evidence: marker/mechanism

NCBI chr21:31,189,240...31,198,244

G

homeobox A11

CTD Direct Evidence: marker/mechanism

NCBI chr21:31,180,232...31,187,709
Ensembl chr21:31,183,682...31,186,010

G

hydroxysteroid 17-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:67,464,986...67,529,079
Ensembl chr 5:67,464,334...67,529,182

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930

G

insulin like growth factor binding protein 3

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

NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205

G

inhibin subunit alpha

mRNA:decreased expression:endometrium

NCBI chr10:105,467,575...105,471,388
Ensembl chr10:105,467,963...105,471,688

G

jagged canonical Notch ligand 1

NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504

G

JAZF zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:30,190,380...30,539,062

G

kinase insert domain receptor

disease_progression

mRNA:increased expression:endometrium

PMID:11745191 PMID:12485477

RGD:2301252 RGD:2301760

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

KRAS proto-oncogene, GTPase

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

LIM and SH3 protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:67,268,442...67,320,473
Ensembl chr16:67,267,940...67,320,373

G

leucyl and cystinyl aminopeptidase

NCBI chr 4:90,769,988...90,872,205
Ensembl chr 4:90,770,272...90,863,268

G

aldo-keto reductase family 1 member B1

CTD Direct Evidence: marker/mechanism

NCBI chr21:103,060,018...103,076,844
Ensembl chr21:103,059,991...103,077,341

G

cadherin-1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

mitogen-activated protein kinase kinase kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:88,489,835...88,621,504
Ensembl chr13:88,490,200...88,620,992

G

mitogen-activated protein kinase 3

treatment

NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461

G

MET proto-oncogene, receptor tyrosine kinase

DNA:amplification

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

mutL homolog 3

CTD Direct Evidence: marker/mechanism

NCBI chr24:52,231,468...52,266,179

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:endometrium

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

mutS homolog 2

DNA, protein:mutation, decreased expression:endometrium

PMID:11920468 PMID:17925543

RGD:2293523 RGD:2298951

NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819

G

mutS homolog 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:74,811,181...75,032,067
Ensembl chr 4:74,811,198...75,032,005

G

mutS homolog 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

non-SMC condensin I complex subunit G

CTD Direct Evidence: marker/mechanism

NCBI chr27:32,380,722...32,413,659
Ensembl chr27:32,377,575...32,413,494

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

nuclear receptor interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:77,480,398...77,583,985
Ensembl chr 2:77,577,029...77,580,496

G

8-oxoguanine DNA glycosylase

no_association

DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human)

PMID:22271435 PMID:22544315

RGD:8657377 RGD:8657379

NCBI chr22:45,757,414...45,763,690

G

pro-apoptotic WT1 regulator

CTD Direct Evidence: marker/mechanism

NCBI chr11:75,132,547...75,219,633
Ensembl chr11:75,133,186...75,219,072

G

progesterone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:92,420,970...92,519,128
Ensembl chr 1:92,430,453...92,517,296

G

prohibitin 1

protein:increased expression:endometrium

NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

mRNA:increased expression:endometrium (human)

NCBI chr15:51,705,585...51,885,848
Ensembl chr15:51,775,733...51,889,238

G

plexin A3

CTD Direct Evidence: marker/mechanism

NCBI chr X:128,706,354...128,721,971
Ensembl chr X:128,708,424...128,721,971

G

phosphatase and tensin homolog

severity

DNA:loss of heterozygosity:cds: (human)
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:endometrium

PMID:9326929 PMID:9354433 PMID:9765621 PMID:12888921 PMID:16402032 More...

RGD:12832746 RGD:12832753 RGD:2292506

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin-endoperoxide synthase 2

disease_progression

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

RB transcriptional corepressor 1

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

ring finger protein 144B

CTD Direct Evidence: marker/mechanism

NCBI chr17:53,683,645...53,866,961
Ensembl chr17:53,683,576...53,764,106

G

ring finger protein 43

CTD Direct Evidence: marker/mechanism

NCBI chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107

G

semaphorin 3B

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,652,766...11,664,902
Ensembl chr22:11,656,918...11,665,418

G

semaphorin 3F

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,540,958...11,574,888
Ensembl chr22:11,545,455...11,575,006

G

SIX homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:37,840,399...37,855,801
Ensembl chr24:37,840,309...37,845,192

G

S-phase kinase associated protein 2

NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632

G

suppressor of cytokine signaling 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423

G

serine peptidase inhibitor Kazal type 1

NCBI chr23:50,365,686...50,373,300
Ensembl chr23:50,365,269...50,372,814

G

speckle type BTB/POZ protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,990,554...70,073,241

G

steroid 5 alpha-reductase 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:75,915,495...75,971,280
Ensembl chr14:75,917,260...75,970,365

G

serine and arginine rich splicing factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr20:108,713,392...108,728,908
Ensembl chr20:108,721,666...108,722,522

G

ST14 transmembrane serine protease matriptase

disease_progression

protein:increased expression:endometrium

NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007

G

steroidogenic acute regulatory protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,164,891...36,174,424
Ensembl chr 8:36,167,694...36,174,583

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:endometrium

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

sulfotransferase family 2B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:41,809,654...41,852,685
Ensembl chr 6:41,810,049...41,852,681

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr16:25,413,928...25,474,311
Ensembl chr16:25,413,954...25,476,479

G

telomerase reverse transcriptase

mRNA:increased expression:endometrium

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

TIMP metallopeptidase inhibitor 3

disease_progression

protein:increased expression:endometrium

NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr15:16,934,982...16,953,155
Ensembl chr15:16,934,962...16,954,860

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tumor protein p73

susceptibility

DNA:hypermethylation
DNA:polymorphism:exon

PMID:15723718 PMID:16928264

RGD:2290585 RGD:2298528

NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691

G

transient receptor potential cation channel subfamily V member 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:3,071,158...3,091,068
Ensembl chr16:3,071,526...3,090,330

G

transient receptor potential cation channel subfamily V member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,226,276...15,246,488
Ensembl chr16:15,225,554...15,244,364

G

TSPY like 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:49,218,055...49,225,619
Ensembl chr X:49,219,525...49,225,401

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,377,959...28,394,508

G

zinc finger E-box binding homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:30,674,893...30,862,682
Ensembl chr 9:30,674,578...30,863,250

endometrial serous adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

BRCA2 DNA repair associated

susceptibility

DNA:deletion: :6174delT

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

mutS homolog 6

ClinVar Annotator: match by term: Papillary carcinoma of the corpus uteri

PMID:18269114 PMID:21642682 PMID:24362816 PMID:25741868 PMID:28492532 More...

NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174

endometrial stromal sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

protein:increased expression:tumor:increased in 6/8 (75%) of tumors

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

Endometrioid Carcinomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

DNA:hypermethylation: (human)

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

amphiregulin

mRNA, protein:increased expression:endometrium

NCBI chr 7:22,979,574...22,990,179
Ensembl chr 7:22,980,249...22,990,162

G

ATPase copper transporting beta

disease_progression

protein:increased expression:endometrium

NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077

G

baculoviral IAP repeat containing 5

protein:increased expression:endometrium

NCBI chr16:70,226,824...70,237,000

G

bone morphogenetic protein 4

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

G

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831

G

cyclin E1

protein:increased expression:endometrium

NCBI chr 6:24,879,923...24,888,985

G

cyclin dependent kinase 2

severity

NCBI chr11:51,905,085...51,910,209
Ensembl chr11:51,905,115...51,909,907

G

cyclin dependent kinase inhibitor 1B

NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531

G

checkpoint kinase 2

susceptibility

NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792

G

catenin beta 1

DNA:mutations

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

death domain associated protein

protein:increased expression:ovary:

NCBI chr17:38,754,227...38,758,714
Ensembl chr17:38,754,280...38,759,071

G

DNA methyltransferase 1

mRNA,protein:increased expression:uterus:

NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607

G

DNA methyltransferase 3 beta

mRNA,protein:increased expression:uterus:

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

epidermal growth factor receptor

mRNA:decreased expression:endometrium

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

enolase 2

NCBI chr11:6,945,243...6,954,959
Ensembl chr11:6,945,413...6,957,304

G

erb-b2 receptor tyrosine kinase 2

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

G

erb-b2 receptor tyrosine kinase 3

NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028

G

erb-b2 receptor tyrosine kinase 4

NCBI chr10:97,099,090...98,281,697

G

estrogen receptor 1

severity

protein:increased phosphorylation

NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549

G

fibroblast growth factor receptor 2

DNA:mutations:exons,intron, splice site:varied mutations in different patients, mutations are somatic but identical germline mutations are associated with craniosynostosis and skeletal dysplasia syndromes

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

insulin like growth factor binding protein 3

disease_progression

NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205

G

inhibin subunit alpha

protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue

NCBI chr10:105,467,575...105,471,388
Ensembl chr10:105,467,963...105,471,688

G

inhibin subunit beta A

protein:decreased expression:endometrium

NCBI chr21:16,936,054...16,951,430
Ensembl chr21:16,936,175...16,946,880

G

kinase insert domain receptor

severity

protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009)

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

KRAS proto-oncogene, GTPase

associated with Ovarian Neoplasms

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

leucyl and cystinyl aminopeptidase

associated with Endometrial Neoplasms

NCBI chr 4:90,769,988...90,872,205
Ensembl chr 4:90,770,272...90,863,268

G

cadherin-1

protein:decreased expression:endometrium

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

mitogen-activated protein kinase 1

treatment

NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325

G

mitogen-activated protein kinase 3

treatment

NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461

G

mesothelin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757

G

NK2 homeobox 1

DNA:hypermethylation

NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056

G

platelet derived growth factor receptor alpha

protein:decreased expression:ovary

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

platelet derived growth factor receptor beta

protein:increased expression:ovary

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

G

DNA polymerase epsilon, catalytic subunit

ameliorates

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Endometrioid adenocarcinoma

PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More...

NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292

G

phosphatase and tensin homolog

DNA:loss of heterozygosity, mutations:multiple (human)
DNA:mutations: :multiple

PMID:11156411 PMID:17418409

RGD:12802357 RGD:2289817

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

secreted phosphoprotein 1

NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407

G

ST14 transmembrane serine protease matriptase

associated with Ovarian Neoplasms;protein:increased expression:ovary

NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007

G

WNT inhibitory factor 1

mRNA:increased expression:ovary

NCBI chr11:60,728,316...60,800,181
Ensembl chr11:60,727,948...60,799,960

epidermodysplasia verruciformis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More...

NCBI chr16:43,585,975...43,605,452
Ensembl chr16:43,589,522...43,605,220

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More...

NCBI chr16:43,575,479...43,588,888
Ensembl chr16:43,573,867...43,587,019

G

trinucleotide repeat containing adaptor 6C

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

NCBI chr16:43,610,595...43,718,117
Ensembl chr16:43,613,223...43,717,852

Epidermodysplasia Verruciformis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition

PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More...

NCBI chr16:43,585,975...43,605,452
Ensembl chr16:43,589,522...43,605,220

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1

PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More...

NCBI chr16:43,575,479...43,588,888
Ensembl chr16:43,573,867...43,587,019

Epidermodysplasia Verruciformis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition

PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr16:43,585,975...43,605,452
Ensembl chr16:43,589,522...43,605,220

G

transmembrane channel like 8

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition

PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 More...

NCBI chr16:43,575,479...43,588,888
Ensembl chr16:43,573,867...43,587,019

Epidermodysplasia Verruciformis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium and integrin binding 1

susceptibility

ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3

PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 More...

NCBI chr29:8,777,202...8,781,027
Ensembl chr29:8,777,436...8,781,030

Epidermodysplasia Verruciformis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member H

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition

PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840

NCBI chr27:10,061,316...10,109,124
Ensembl chr27:10,062,014...10,062,589

Epidermodysplasia Verruciformis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 7

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition

PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394

NCBI chr 8:74,230,493...74,292,985
Ensembl chr 8:74,231,809...74,292,384

Fallopian Tube Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1B

protein:decreased expression:fallopian tube

NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531

familiar ovarian carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAD51 paralog C

ClinVar Annotator: match by term: Familial ovarian carcinoma

PMID:25741868 PMID:33832919

NCBI chr16:34,666,934...34,708,479
Ensembl chr16:34,666,162...34,708,457

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr 6:47,534,730...47,560,380
Ensembl chr 6:47,539,594...47,552,265

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,306,523...41,313,065

granulosa cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone

disease_progression

NCBI chr 6:2,047,756...2,051,073
Ensembl chr 6:2,048,319...2,050,958

G

bone morphogenetic protein 4

mRNA:increased expression:ovary

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

G

cyclin D2

mRNA:increased expression:ovary

NCBI chr11:4,307,419...4,339,003
Ensembl chr11:4,307,401...4,333,661