female reproductive organ cancer - Ontology Report

mRNA, protein:increased expression:uterine cervix

PMID:10727981

RGD:2298570

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

TFRC

transferrin receptor

protein:increased expression:uterine cervix

PMID:9739406

RGD:2292022

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

tumor protein p53

disease_progression

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

cervical cancer

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANG

angiogenin

protein:increased expression:serum

PMID:11299848

RGD:2325708

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

APEX1

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

API5

apoptosis inhibitor 5

disease_progression

mRNA:increased expression

PMID:10780674

RGD:1643340

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

BCL2L1

BCL2 like 1

protein:increased expression:uterine cervix

PMID:17311011

RGD:1643476

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

BIRC2

baculoviral IAP repeat containing 2

mRNA:decreased expression:uterine cervix

PMID:16504151

RGD:1643527

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

BRCA1 DNA repair associated

disease_progression

DNA:hypermethylation:promoter

PMID:12773202

RGD:2298941

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

BRIP1

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

BSG

basigin (Ok blood group)

disease_progression

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

caspase 3

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

CCNB1

cyclin B1

mRNA, protein:increased expression:uterine cervix

PMID:16614707

RGD:2315938

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

CD55

CD55 molecule (Cromer blood group)

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

CDC25A

cell division cycle 25A

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

CDC25C

cell division cycle 25C

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

CDH13

cadherin 13

DNA:hypermethylation:promoter

PMID:17548682

RGD:2293543

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

CDK1

cyclin dependent kinase 1

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

EBAG9

estrogen receptor binding site associated antigen 9

disease_progression

protein:increased expression:uterine cervix

PMID:16112176

RGD:2289851

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

ERBB4

erb-b2 receptor tyrosine kinase 4

protein:increased expression: uterine cervix, cytoplasm

PMID:28042953

RGD:126790468

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

FANCA

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

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

HNRNPC

heterogeneous nuclear ribonucleoprotein C

protein:increased expression:cervical epithelium (human)

PMID:19319956

RGD:10054394

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

HOXB13

homeobox B13

mRNA:increased expression:uterine cervix

PMID:16803519

RGD:2314728

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

HSPA8

heat shock protein family A (Hsp70) member 8

Protein: increased expression

PMID:21137014

RGD:6218976

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

IL10

interleukin 10

disease_progression

protein:increased expression:serum

PMID:9541628

RGD:2317658

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

IL1B

interleukin 1 beta

susceptibility

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

PMID:25893807

RGD:36174015

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

KDM3A

lysine demethylase 3A

severity

human gene in a mouse model

PMID:23492365

RGD:9590219

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

KMT2A

lysine methyltransferase 2A

human gene in a mouse model

PMID:22926525

RGD:9588221

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

KMT2E

lysine methyltransferase 2E (inactive)

human gene in a mouse model

PMID:25172963

RGD:9588553

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

LOC103224275

glutathione S-transferase Mu 1

susceptibility

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

MACC1

MET transcriptional regulator MACC1

mRNA:increased expression:cervical region (human)

PMID:33603486

RGD:152999025

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

MAP2K3

mitogen-activated protein kinase kinase 3

treatment

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

MAP2K6

mitogen-activated protein kinase kinase 6

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

MDC1

mediator of DNA damage checkpoint 1

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

PMID:21853275

RGD:9589052

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

MED4

mediator complex subunit 4

severity

mRNA:decreased expression:uterine cervix (human)

PMID:19911042

RGD:12880436

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

MHC-DPB1

major histocompatibility complex, class II, DP beta 1

susceptibility

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

PMID:17349874

RGD:150429811

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

MMP1

matrix metallopeptidase 1

disease_progression

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

PMID:14550952

RGD:7207024

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

MMP13

matrix metallopeptidase 13

mRNA:increased expression:uterine cervix

PMID:17243165

RGD:2306082

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

MTHFR

methylenetetrahydrofolate reductase

susceptibility

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

PMID:27771518

RGD:38501051

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

NDUFS6

NADH:ubiquinone oxidoreductase subunit S6

disease_progression

DNA, mRNA:amplification, increased expression:uterine cervix

PMID:18559093

RGD:2302384

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

NRAS

NRAS proto-oncogene, GTPase

mRNA:increased expression:uterine cervix

PMID:14984964

RGD:2314838

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

phosphoglucomutase 3

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

PRKN

parkin RBR E3 ubiquitin protein ligase

disease_progression

protein:decreased expression:uterine cervix (human)

PMID:28631565

RGD:13432557

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

PTK2

protein tyrosine kinase 2

disease_progression

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

PTPN11

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

PMID:18543080

RGD:39128248

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

PTPN6

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

PMID:18543080

RGD:39128248

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

RASSF1

Ras association domain family member 1

associated with Papillomavirus Infections;DNA:hypermethylation:promoter

PMID:18608185

RGD:2299861

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

SF3B4

splicing factor 3b subunit 4

severity

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

SMAD family member 2

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

PMID:12894231

RGD:2299968

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

SMAD4

SMAD family member 4

mRNA:decreased expression:uterine cervix

PMID:12894231

RGD:2299968

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

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

mRNA:increased expression:cervix epithelium (human)

PMID:27581326

RGD:13441596

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

SPAG5

sperm associated antigen 5

severity

mRNA, protein:increased expression:cervix (human)

PMID:35853859

RGD:155882439

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

TAP1

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

TAP2

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

TIMP4

TIMP metallopeptidase inhibitor 4

disease_progression

mRNA:increased expression:uterine cervix

PMID:15816637

RGD:2290434

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

TNF

tumor necrosis factor

susceptibility

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

TNF receptor superfamily member 10a

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

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

TP73

tumor protein p73

susceptibility

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

PMID:30420492

RGD:151347580

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

XRCC1

X-ray repair cross complementing 1

DNA:polymorphism: :p.R194W

PMID:18851872

RGD:2302567

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

ZFHX3

zinc finger homeobox 3

mRNA:increased expression:uterine cervix

PMID:11812077

RGD:2315697

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

cervical mucinous adenocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

STK11

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

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADAR

adenosine deaminase RNA specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

PMID:28109322

RGD:125097518

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

BAX

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

PMID:17694953

RGD:1643352

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

BIRC2

baculoviral IAP repeat containing 2

disease_progression

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

PMID:12208731

RGD:1643529

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

BRIP1

BRCA1 interacting DNA helicase 1

severity

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

PMID:24708616

RGD:11252104

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

CCL22

C-C motif chemokine ligand 22

severity

C-C motif chemokine receptor 4

severity

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

CD82

CD82 molecule

protein:decreased expression:uterine cervix

PMID:15642213

RGD:2289399

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

CSF1R

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

PMID:18565574

RGD:2299119

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

FGF7

fibroblast growth factor 7

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

PMID:17306351

RGD:2289084

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

fibroblast growth factor receptor 3

no_association

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

PMID:11605053

RGD:38500202

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

FOS

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

PMID:15514944

RGD:2293757

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

FOSL1

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

PMID:15514944

RGD:2293757

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

FOXP3

forkhead box P3

severity

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

PDPN

podoplanin

disease_progression

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

SMAD3

SMAD family member 3

severity

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

TIMP2

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

PMID:16619570

RGD:2290402

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

TMBIM6

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

PMID:15337562

RGD:2291959

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

TNFRSF4

TNF receptor superfamily member 4

severity

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

TNFSF4

TNF superfamily member 4

severity

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

tumor protein p53

disease_progression

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

TYMP

thymidine phosphorylase

disease_progression

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

cervix carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APEX1

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:SNPs (human)

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

BAG1

BAG cochaperone 1

protein:increased expression:uterine cervix

PMID:10047462

RGD:2293889

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

BAK1

BCL2 antagonist/killer 1

DNA:missense mutations:exon:multiple (human)

PMID:12771926

RGD:2315701

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

cyclin D3

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

CD9

CD9 molecule

disease_progression

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

EFEMP2

EGF containing fibulin extracellular matrix protein 2

exacerbates

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

PMID:24737201

RGD:42722607

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

ERAP1

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

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

LOC103224275

glutathione S-transferase Mu 1

onset

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

PMID:10813720

RGD:7495819

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

MGMT

O-6-methylguanine-DNA methyltransferase

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

PMID:17234722

RGD:2317690

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

PTGS1

prostaglandin-endoperoxide synthase 1

disease_progression

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

PTK2

protein tyrosine kinase 2

protein:increased tyrosine phosphorylation:cervix

PMID:14675348

RGD:2292568

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

SPARC

secreted protein acidic and cysteine rich

DNA:hypermethylation

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

TAP2

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNP: :(rs4148876)(human)

PMID:17366619

RGD:6482264

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

TK1

thymidine kinase 1

protein:increased expression:serum (human)

PMID:11474248

RGD:2317243

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

TSG101

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

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADAM9

ADAM metallopeptidase domain 9

protein:increased expression:uterine cervix

PMID:19473694

RGD:2325246

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

BCL2

BCL2 apoptosis regulator

disease_progression

protein:increased expression:uterine cervix

PMID:18561741

RGD:2298889

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

BRCA1 DNA repair associated

DNA:deletions:exon

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

CADM1

cell adhesion molecule 1

severity

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

CCND1

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

CCNE1

cyclin E1

protein:increased expression:uterine cervix

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

CD274

CD274 molecule

severity

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

PMID:23521696

RGD:40822817

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

CD46

CD46 molecule

protein:increased expression:uterine cervix

PMID:9358772

RGD:2293549

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

CDK4

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

CDKN1A

cyclin dependent kinase inhibitor 1A

protein:increased expression:epithelial cell:

PMID:9546362

RGD:8662446

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

CDKN1B

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

CSF1R

colony stimulating factor 1 receptor

disease_progression

protein:increased expression:uterine cervix

PMID:18565574

RGD:2299119

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

CTNNA1

catenin alpha 1

disease_progression

protein:decreased expression:uterine cervix

PMID:11161853

RGD:2289797

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

DLG1

discs large MAGUK scaffold protein 1

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

PMID:15221964

RGD:2306812

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

FASLG

Fas ligand

associated with Papillomavirus Infections

PMID:17433060

RGD:2290052

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

HDAC1

histone deacetylase 1

protein:increased expression:uterine cervix

PMID:19147762

RGD:2306200

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

HDAC2

histone deacetylase 2

protein:increased expression:uterine cervix

PMID:19147762

RGD:2306200

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

HDAC6

histone deacetylase 6

protein:increased expression:uterine cervix

PMID:19147762

RGD:2306200

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

IGFBP3

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

IL1B

interleukin 1 beta

susceptibility

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

PMID:25893807

RGD:36174015

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

cadherin-1

DNA:hypermethylation:uterine cervix

PMID:17894941

RGD:2289490

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

LOC103244924

cyclin-G1

protein:increased expression:uterine cervix

PMID:16845792

RGD:2316022

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

matrix Gla protein

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

MLH1

mutL homolog 1

protein:increased expression:uterine cervix

PMID:15807307

RGD:2293515

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

MMP2

matrix metallopeptidase 2

disease_progression

protein:increased expression:uterine cervix

PMID:16619570

RGD:2290402

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

MSH2

mutS homolog 2

protein:increased expression:uterine cervix

PMID:15807307

RGD:2293515

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

MTHFR

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

PMID:17303386

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

PDCD1

programmed cell death 1

severity

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

PMID:23521696

RGD:40822817

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

PHB1

prohibitin 1

protein:increased expression:uterine cervix

PMID:16426920

RGD:2292398

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

POU4F1

POU class 4 homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:20190800

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

phosphatase and tensin homolog

protein:decreased expression:uterine cervix

PMID:17672936

RGD:2298701

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

PTGS2

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:uterine cervix, epithelial cell

PMID:18565574

RGD:2299119

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

RB1

RB transcriptional corepressor 1

associated with Adenocarcinoma

PMID:18234283

RGD:2299896

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

RELA

RELA proto-oncogene, NF-kB subunit

disease_progression

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

PMID:16850495

RGD:2298759

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

SKP2

S-phase kinase associated protein 2

severity

associated with Papillomavirus Infections

PMID:19094580

RGD:2315036

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

SRSF1

serine and arginine rich splicing factor 1

disease_progression

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

PMID:19718710

RGD:11039410

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

STAT3

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

TERT

telomerase reverse transcriptase

disease_progression

protein:increased expression:uterine cervix

PMID:17644806

RGD:2291985

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

THRB

thyroid hormone receptor beta

DNA:loss of heterozygosity (human)

PMID:11483913

RGD:2315099

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

TOP2A

DNA topoisomerase II alpha

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

TP63

tumor protein p63

disease_progression

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

TP73

tumor protein p73

disease_progression

mRNA:increased expression:uterine cervix

PMID:11870517

RGD:2290589

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

VEGFA

vascular endothelial growth factor A

protein:increased expression:uterine cervix

PMID:19723043

RGD:2315456

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

XIAP

X-linked inhibitor of apoptosis

protein:increased expression:uterine cervix

PMID:18325467

RGD:2315850

choriocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FGF8

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

PMID:11764380

RGD:2289339

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

IGF2

insulin like growth factor 2

disease_progression

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

PMID:17556377

RGD:2290454

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

INSR

insulin receptor

disease_progression

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

PMID:17556377

RGD:2290454

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

PDGFB

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

PMID:8504434

RGD:2292200

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

PDGFRB

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

PMID:8504434

RGD:2292200

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

TIMP3

TIMP metallopeptidase inhibitor 3

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

PMID:15507671

RGD:2290418

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

dysgerminoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AMHR2

anti-Mullerian hormone receptor type 2

protein:increased expression:ovary

PMID:17988723

RGD:2315651

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

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

FGFR2

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

PMID:17243131

RGD:2289660

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

INHA

inhibin subunit alpha

protein:increased expression:tumor

PMID:11720904

RGD:2290380

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

KIT

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

POU5F1

POU class 5 homeobox 1

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

SET

SET nuclear proto-oncogene

ClinVar Annotator: match by term: Dysgerminoma

PMID:26822237

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

ST14

ST14 transmembrane serine protease matriptase

protein:increased expression:ovary

PMID:16439987

RGD:2315091

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

endometrial adenocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANGPT1

angiopoietin 1

protein:increased expression:endometrium epithelium

PMID:17295646

RGD:2293852

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

ANGPT2

angiopoietin 2

protein:increased expression:endometrium epithelium

PMID:17295646

RGD:2293852

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

ARID1A

AT-rich interaction domain 1A

treatment

human cell in mouse model

PMID:21900401

RGD:126725086

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

axin 2

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

BET1L

Bet1 golgi vesicular membrane trafficking protein like

disease_progression

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

CD55

CD55 molecule (Cromer blood group)

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

EBAG9

estrogen receptor binding site associated antigen 9

protein:increased expression:endometrium

PMID:16112719

RGD:2289850

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

FOXO3

forkhead box O3

severity

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

PMID:26045339

RGD:11530998

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

GPX3

glutathione peroxidase 3

mRNA:decreased expression:endometrium (rat)

PMID:19426485

RGD:2312621

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

IRF1

interferon regulatory factor 1

DNA:deletions (rat)

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

JUN

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

PMID:10684716

RGD:2290482

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

KRAS

KRAS proto-oncogene, GTPase

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

PMID:10775052

RGD:1600499

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

MAPK1

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

MAPK3

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

PDCD10

programmed cell death 10

disease_progression

protein:increased expression:endometrium (human)

PMID:32186778

RGD:401827111

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

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

PMID:21478295

RGD:13441595

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

phosphatase and tensin homolog

ameliorates

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

PTGES

prostaglandin E synthase

protein:increased expression:endometrium

PMID:11592775

RGD:2300089

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

RRM2

ribonucleotide reductase regulatory subunit M2

DNA:amplification (rat)

PMID:15942940

RGD:2324953

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

TGFBR3

transforming growth factor beta receptor 3

mRNA:decreased expression:endometrium

PMID:15745937

RGD:1579943

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

tumor protein p53

disease_progression

DNA:missense mutations
protein:increased expression:endometrium

PMID:1540970

RGD:2290541

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

TSG101

tumor susceptibility 101

mRNA:alternative forms

PMID:10027311

RGD:2291854

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

endometrial cancer

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADRB3

adrenoceptor beta 3

susceptibility

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

PMID:15743038

RGD:2313164

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

AFP

alpha fetoprotein

severity

protein:increased expression:serum

PMID:17659325

RGD:2292039

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

AKT2

AKT serine/threonine kinase 2

severity

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

PMID:22146979

RGD:13432140

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

ANG

angiogenin

protein:increased expression:serum

PMID:9119882

RGD:2317659

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

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

APEX1

apurinic/apyrimidinic endodeoxyribonuclease 1

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

PMID:11465542

RGD:2315878

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

androgen receptor

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

ARID1A

AT-rich interaction domain 1A

onset

protein:decreased expression:endometrium (human)

PMID:23887303

RGD:126779522

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

ATM serine/threonine kinase

susceptibility

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

BAD

BCL2 associated agonist of cell death

disease progression

protein:altered expression:endometrium (human)

PMID:24645842

RGD:13432164

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

BAG1

BAG cochaperone 1

protein:increased expression:endometrium

PMID:15297164

RGD:2293886

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

BCL2L1

BCL2 like 1

protein:increased expression:endometrium

PMID:17311011

RGD:1643476

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

BRCA2

BRCA2 DNA repair associated

DNA:deletion, frameshift mutation

PMID:10451700

RGD:2296027

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

BST2

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

CD59

CD59 molecule (CD59 blood group)

protein:increased expression:endometrium

PMID:10637067

RGD:2293548

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

CD9 molecule

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

CDC25B

cell division cycle 25B

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

CDC25C

cell division cycle 25C

DNA:mutation (human)

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

CHI3L1

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

PMID:17023034

RGD:4892642

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

COMT

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

CYP19A1

cytochrome P450 family 19 subfamily A member 1

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

PMID:18497059

RGD:2301045

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

CYP1A1

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)

PMID:18318428

RGD:2301040

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

CYP1A2

cytochrome P450 family 1 subfamily A member 2

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

PMID:18497059

RGD:2301045

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

DHFR

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

EFEMP2

EGF containing fibulin extracellular matrix protein 2

exacerbates
ameliorates

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

PMID:28177909

RGD:42722012

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

EGF

epidermal growth factor

severity

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

PMID:19319135

RGD:13673915

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

ERRFI1

ERBB receptor feedback inhibitor 1

OMIM:608089

MouseDO

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

FGF1

fibroblast growth factor 1

disease_progression

mRNA:increased expression:myometrium

PMID:8685603

RGD:2298516

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

FGF2

fibroblast growth factor 2

disease_progression

mRNA, protein:increased expression:myometrium

PMID:8685603

RGD:2298516

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

GHRH

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

homeobox B13

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

HTRA2

HtrA serine peptidase 2

protein:decreased expression:endometrium (human)

PMID:19424634

RGD:5688747

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

IL10

interleukin 10

protein:increased expression:serum

PMID:9119882

RGD:2317659

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

JAK1

Janus kinase 1

severity

DNA:frameshift mutations

PMID:29121062

RGD:150524355

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

JUP

junction plakoglobin

protein:decreased expression:endometrium

PMID:12635138

RGD:2301747

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

cadherin-1

OMIM

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

LTA

lymphotoxin alpha

susceptibility

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

microcephalin 1

DNA:deletions:exons:multiple (human)

PMID:20638839

RGD:9589018

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

MLH3

mutL homolog 3

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

ClinVar Annotator: match by term: Endometrial cancer

ClinVar
OMIM

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

MMP7

matrix metallopeptidase 7

disease_progression

protein:increased expression:endometrium

PMID:17352221

RGD:2298522

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

MRE11

MRE11 homolog, double strand break repair nuclease

DNA:deletions:intron:IVS4_delT (human)

PMID:15048091

RGD:2317737

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

MSH3

mutS homolog 3

ClinVar Annotator: match by term: MSH3-related condition

OMIM
ClinVar

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

MSH6

mutS homolog 6

OMIM

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

MUTYH

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

NOTCH1

notch receptor 1

mRNA:increased expression:endometrium

PMID:11078798

RGD:2299153

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

NOTCH4

notch receptor 4

mRNA:decreased expression:endometrium

PMID:11078798

RGD:2299153

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

phosphoglucomutase 1

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

PIK3CB

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

onset

mRNA:increased expression:endometrium (human)

PMID:28002804

RGD:13674181

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

PIK3CD

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

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

PMID:21984976

RGD:13674179

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

POLE

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

phosphatase and tensin homolog

OMIM:608089

MouseDO

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

RAD21

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

RNF43

ring finger protein 43

DNA:mutations:multiple: (human)

PMID:25344691

RGD:151361224

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

SHBG

sex hormone binding globulin

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

PMID:17315164

RGD:1625245

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

SMAD2

SMAD family member 2

protein:increased expression:endometrium

PMID:12883738

RGD:2299970

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

SMAD3

SMAD family member 3

protein:increased expression:endometrium

PMID:12883738

RGD:2299970

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

SMAD7

SMAD family member 7

disease_progression

mRNA:increased expression:endometrium

PMID:15661223

RGD:2299963

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

SOCS2

suppressor of cytokine signaling 2

DNA:hypermethylated

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

SPAG9

sperm associated antigen 9

protein:increased expression:serum:

PMID:24460345

RGD:30296659

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

STK11

serine/threonine kinase 11

OMIM:608089

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

SULT1E1

sulfotransferase family 1E member 1

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

PMID:18318428

RGD:2301040

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

TFF1

trefoil factor 1

mRNA, protein:increased expression:endometrium

PMID:10835496

RGD:2298569

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

TIMP4

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:endometrium

PMID:15273280

RGD:2290435

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

TNFRSF1A

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

PMID:8920779

RGD:5131439

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

TNFRSF1B

TNF receptor superfamily member 1B

protein:increased expression:serum (human)

PMID:8920779

RGD:5131439

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

tumor protein p53

OMIM:608089

MouseDO

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

TYMP

thymidine phosphorylase

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

WT1

WT1 transcription factor

disease_progression

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

endometrial carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APC regulator of WNT signaling pathway

onset

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

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

RGD
ClinVar

RGD:13524625

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

AREL1

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

ARID1A

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

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

AURKA

aurora kinase A

mRNA, protein:increased expression:endometrium

PMID:16311121

RGD:2293878

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

AURKB

aurora kinase B

disease_progression

mRNA, protein:increased expression:endometrium

PMID:16311121

RGD:2293878

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

BARD1

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

BRAF

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:28492532

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

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

BRCA2

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

BRICD5

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

BSG

basigin (Ok blood group)

disease_progression

protein:increased expression:endometrium

PMID:17342307

RGD:2296029

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

CASKIN1

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

cyclin B1

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

CD82

CD82 molecule

disease_progression

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

CDH13

cadherin 13

disease_progression

DNA:hypomethylation

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

CHEK2

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

CUNH11orf65

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

DHFR

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

DNASE1L2

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

E4F1

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

ECI1

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

EGFR

epidermal growth factor receptor

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:28492532

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

ERAP1

endoplasmic reticulum aminopeptidase 1

disease_progression

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

FGF7

fibroblast growth factor 7

mRNA:decreased expression:endometrium

PMID:9070494

RGD:2301091

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

FGFR2

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

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

GRB2

growth factor receptor bound protein 2

severity

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

PMID:22459351

RGD:13441552

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

GSK3B

glycogen synthase kinase 3 beta

severity

protein:increased expression:endometrium (human)

PMID:27050373

RGD:13524565

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

HDAC3

histone deacetylase 3

disease_progression

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

HRAS

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

JUN

Jun proto-oncogene, AP-1 transcription factor subunit

disease_progression

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

PMID:15800680

RGD:2290481

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

KISS1

KiSS-1 metastasis suppressor

disease_progression

mRNA:decreased expression:endometrium

PMID:15949424

RGD:2302170

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

KRAS

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

LOC103226816

ATP-binding cassette sub-family A member 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

LOC103246803

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

MAPK1

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

MAPK3

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

MLH1

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

MLH3

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

MLST8

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

MMP8

matrix metallopeptidase 8

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

MMP9

matrix metallopeptidase 9

disease_progression

protein:increased expression:endometrium

PMID:12487935

RGD:2298523

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

MSH2

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

MSH3

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

MSH6

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

MUTYH

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

NCOA1

nuclear receptor coactivator 1

mRNA:increased expression:endometrium

PMID:14751175

RGD:2298984

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

NCOR2

nuclear receptor corepressor 2

mRNA:increased expression:endometrium

PMID:14751175

RGD:2298984

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

NOS3

nitric oxide synthase 3

disease_progression

protein:increased expression:endometrium

PMID:9276029

RGD:2292090

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

PALB2

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

PGP

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

PIK3CA

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

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

PMID:23636398

RGD:13628733

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

PKD1

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

POLE

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

PRKCA

protein kinase C alpha

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

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

PTGS1

prostaglandin-endoperoxide synthase 1

disease_progression

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

PTK2

protein tyrosine kinase 2

severity

protein:increased expression:endometrium

PMID:15536334

RGD:2292562

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

RAB26

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

RAD51C

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

RASSF1

Ras association domain family member 1

DNA, protein:hypermethylation, decreased expression:promoter,

PMID:18469797

RGD:2299863

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

RNPS1

RNA binding protein with serine rich domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

RUNX3

RUNX family transcription factor 3

DNA:promoter:hypermethylated

PMID:18572225

RGD:2302555

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

stratifin

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

SMAD4

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

SPARC

secreted protein acidic and cysteine rich

DNA, mRNA, protein:hypermethylation, altered expression

PMID:17487382

RGD:2300020

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

STK11

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

TACC3

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

TFF1

trefoil factor 1

disease_progression

protein:increased expression:endometrium

PMID:9221798

RGD:2298572

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

TIMP1

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:endometrium

TIMP metallopeptidase inhibitor 2

disease_progression

mRNA:decreased expression:endometrium

PMID:17009991

RGD:2290360

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

TIMP4

TIMP metallopeptidase inhibitor 4

disease_progression

protein:increased expression:endometrium

PMID:12798711

RGD:2290420

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

tumor protein p53

severity

PMID:18431720 PMID:25741868 PMID:28492532

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

RGD
ClinVar

RGD:2298525

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

TRAF7

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

TSC2

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

WNT2

Wnt family member 2

mRNA:decreased expression:endometrium

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

WNT3

Wnt family member 3

mRNA:decreased expression:tumor:vs normal endometrium

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

WNT4

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

WNT5A

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 serous adenocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

BRCA2

BRCA2 DNA repair associated

susceptibility

DNA:deletion: :6174delT

PMID:16650962

RGD:2289045

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

MSH6

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

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

KIT

KIT proto-oncogene, receptor tyrosine kinase

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

PMID:17367465

RGD:2292170

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

Endometrioid Carcinomas

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APC regulator of WNT signaling pathway

DNA:hypermethylation: (human)

PMID:18570730

RGD:13432144

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

AREG

amphiregulin

mRNA, protein:increased expression:endometrium

PMID:16962163

RGD:2289950

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

ATP7B

ATPase copper transporting beta

disease_progression

protein:increased expression:endometrium

PMID:15790435

RGD:2298864

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

BIRC5

baculoviral IAP repeat containing 5

protein:increased expression:endometrium

PMID:16803539

RGD:2298940

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

BMP4

bone morphogenetic protein 4

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

CA9

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

PMID:17452774

RGD:2298945

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

CCNE1

cyclin E1

protein:increased expression:endometrium

PMID:17483252

RGD:2289230

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

CDK2

cyclin dependent kinase 2

severity

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

CDKN1B

cyclin dependent kinase inhibitor 1B

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

CHEK2

checkpoint kinase 2

susceptibility

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

catenin beta 1

DNA:mutations

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

DAXX

death domain associated protein

protein:increased expression:ovary:

PMID:23539629

RGD:9587820

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

DNMT1

DNA methyltransferase 1

mRNA,protein:increased expression:uterus:

PMID:15721400

RGD:9588596

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

DNMT3B

DNA methyltransferase 3 beta

mRNA,protein:increased expression:uterus:

PMID:15721400

RGD:9588596

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

EGFR

epidermal growth factor receptor

mRNA:decreased expression:endometrium

PMID:16962163

RGD:2289950

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

enolase 2

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

ERBB2

erb-b2 receptor tyrosine kinase 2

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

ERBB3

erb-b2 receptor tyrosine kinase 3

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

ERBB4

erb-b2 receptor tyrosine kinase 4

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

ESR1

estrogen receptor 1

severity

protein:increased phosphorylation

PMID:14559803

RGD:4105451

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

FGFR2

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

PMID:17525745

RGD:2289862

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

IGFBP3

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

INHA

inhibin subunit alpha

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

PMID:17143484

RGD:2290368

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

INHBA

inhibin subunit beta A

protein:decreased expression:endometrium

PMID:16423381

RGD:2301688

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

KDR

kinase insert domain receptor

severity

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

PMID:16557278

RGD:2291929

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

KRAS

KRAS proto-oncogene, GTPase

associated with Ovarian Neoplasms

PMID:19542870

RGD:2314910

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

LNPEP

leucyl and cystinyl aminopeptidase

associated with Endometrial Neoplasms

PMID:15218296

RGD:2314922

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

cadherin-1

protein:decreased expression:endometrium

PMID:18295959

RGD:2296045

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

MAPK1

mitogen-activated protein kinase 1

treatment

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

MAPK3

mitogen-activated protein kinase 3

treatment

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

MSLN

mesothelin

CTD Direct Evidence: marker/mechanism

PMID:14576474

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

NK2 homeobox 1

DNA:hypermethylation

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

PDGFRA

platelet derived growth factor receptor alpha

protein:decreased expression:ovary

PMID:15791568

RGD:2298578

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

PDGFRB

platelet derived growth factor receptor beta

protein:increased expression:ovary

PMID:15791568

RGD:2298578

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

POLE

DNA polymerase epsilon, catalytic subunit

ameliorates

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

RGD
ClinVar

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

RGD:151347648

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

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

SPP1

secreted phosphoprotein 1

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

ST14

ST14 transmembrane serine protease matriptase

associated with Ovarian Neoplasms;protein:increased expression:ovary

PMID:16439987

RGD:2315091

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

WIF1

WNT inhibitory factor 1

mRNA:increased expression:ovary

PMID:16436637

RGD:2298535

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

familiar ovarian carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

RAD51C

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

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NCR1

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117

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

NLRP7

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

POU5F1

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:18440631

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

granulosa cell tumor

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AMH

anti-Mullerian hormone

disease_progression

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

BMP4

bone morphogenetic protein 4

mRNA:increased expression:ovary

PMID:16488995

RGD:1643593

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

CCND2

cyclin D2

mRNA:increased expression:ovary

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

CMKLR1

chemerin chemokine-like receptor 1

CTD Direct Evidence: marker/mechanism

PMID:29653259

NCBI chr11:103,484,422...103,536,273

catenin beta 1

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

FANCF

FA complementation group F

disease_progression
susceptibility

DNA:hypermethylation:promoter

PMID:15574200 PMID:21915857

RGD:11049141 RGD:2298508

NCBI chr 1:42,377,150...42,381,653
Ensembl chr 1:42,378,883...42,380,007

FHIT

fragile histidine triad diadenosine triphosphatase

DNA:hypermethylation:promoter, ovary

PMID:15574200

RGD:2298508

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

FSHR

follicle stimulating hormone receptor

mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)

NCBI chr14:58,013,405...58,211,528
Ensembl chr14:58,013,742...58,212,755

GNAI2

G protein subunit alpha i2

ClinVar Annotator: match by term: Granulosa cell tumor, somatic

PMID:2116665

NCBI chr22:11,623,394...11,646,464
Ensembl chr22:11,623,408...11,647,191

KIT

KIT proto-oncogene, receptor tyrosine kinase

mRNA:decreased expression:ovary

PMID:18028988

RGD:2302173

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

LEPR

leptin receptor

CTD Direct Evidence: marker/mechanism

PMID:28861689

NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229

LHCGR

luteinizing hormone/choriogonadotropin receptor

mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05)

PMID:11994539 PMID:15967102

RGD:2289157 RGD:2302176

NCBI chr14:58,413,334...58,479,124
Ensembl chr14:58,413,993...58,477,987

MGMT

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

PMID:14970867

RGD:2317693

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

PRKAR2B

protein kinase cAMP-dependent type II regulatory subunit beta

mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)

NCBI chr21:75,966,957...76,079,440
Ensembl chr21:75,967,053...76,081,729

PTGS2

prostaglandin-endoperoxide synthase 2

mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)

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

RARRES2

retinoic acid receptor responder 2

CTD Direct Evidence: marker/mechanism

PMID:29653259

NCBI chr21:118,487,199...118,490,561
Ensembl chr21:118,487,506...118,489,516

SGK1

serum/glucocorticoid regulated kinase 1

mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01)

NCBI chr13:39,152,289...39,306,190
Ensembl chr13:39,300,567...39,306,183

SMAD family member 1

NCBI chr 7:92,047,273...92,123,451
Ensembl chr 7:92,079,914...92,123,429

SMAD family member 5

NCBI chr23:38,877,294...38,926,208
Ensembl chr23:38,877,315...38,921,202

ST14

ST14 transmembrane serine protease matriptase

protein:increased expression:ovary

PMID:16439987

RGD:2315091

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

VEGFA

vascular endothelial growth factor A

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

WIF1

WNT inhibitory factor 1

mRNA:increased expression:ovary

PMID:16488995

RGD:1643593

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

Granulosa Cell Tumor of the Ovary

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GNAI2

G protein subunit alpha i2

ClinVar Annotator: match by term: Granulosa cell tumor of the ovary

PMID:2116665

NCBI chr22:11,623,394...11,646,464
Ensembl chr22:11,623,408...11,647,191

hereditary breast ovarian cancer syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

A1CF

APOBEC1 complementation factor

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

NCBI chr 9:80,286,872...80,367,587
Ensembl chr 9:80,314,081...80,370,348

ABCB1

ATP binding cassette subfamily B member 1

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274

ABCC3

ATP binding cassette subfamily C member 3

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:42,646,316...42,703,124
Ensembl chr16:42,646,812...42,702,852

ABCG2

ATP binding cassette subfamily G member 2 (JR blood group)

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

NCBI chr 7:36,458,110...36,599,753

ABI3

ABI family member 3

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3

NCBI chr16:69,613,308...69,625,887

ABRAXAS1

abraxas 1, BRCA1 A complex subunit

ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:25741868 PMID:28492532 PMID:32566746

NCBI chr 7:31,852,411...31,875,968
Ensembl chr 7:31,853,490...31,875,189

ACACA

acetyl-CoA carboxylase alpha

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

NCBI chr16:30,374,166...30,704,635
Ensembl chr16:30,452,343...30,705,004

ACBD4

acyl-CoA binding domain containing 4

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:61,266,849...61,277,731
Ensembl chr16:61,266,625...61,275,797

ACSF2

acyl-CoA synthetase family member 2

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:42,861,177...42,909,048
Ensembl chr16:42,857,245...42,909,397

ADAM11

ADAM metallopeptidase domain 11

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:61,621,707...61,644,813
Ensembl chr16:61,621,673...61,644,723

AIM2

absent in melanoma 2

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:25741868 PMID:28492532

NCBI chr20:4,759,746...4,884,460
Ensembl chr20:4,873,008...4,884,764

AKAP1

A-kinase anchoring protein 1

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:36,275,287...36,313,612
Ensembl chr16:36,275,209...36,306,012

AMH

anti-Mullerian hormone

ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure

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

AMHR2

anti-Mullerian hormone receptor type 2

ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

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

ANKFN1

ankyrin repeat and fibronectin type III domain containing 1

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:36,928,574...37,422,278
Ensembl chr16:36,929,938...37,223,997

ANKRD31

ankyrin repeat domain 31

ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure

NCBI chr 4:69,433,974...69,597,267

ANKRD40

ankyrin repeat domain 40

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:42,629,764...42,644,823
Ensembl chr16:42,629,773...42,642,046

AOPEP

aminopeptidase O (putative)

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:25741868 PMID:28492532 PMID:32566746

NCBI chr12:108,007,895...108,360,361
Ensembl chr12:108,171,743...108,360,041

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

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

ARHGAP27

Rho GTPase activating protein 27

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:60,984,171...61,020,579
Ensembl chr16:60,985,548...61,020,220

ARL4D

ARF like GTPase 4D

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859

NCBI chr16:63,010,825...63,012,787
Ensembl chr16:63,011,426...63,012,031

ASB16

ankyrin repeat and SOCS box containing 16

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:62,203,904...62,222,561
Ensembl chr16:62,210,463...62,221,650

ATM serine/threonine kinase

ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:100011 PMID:581456 PMID:988733 PMID:1160401 PMID:1739330 More...

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

ATP5MC1

ATP synthase membrane subunit c locus 1

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:69,307,094...69,312,257
Ensembl chr16:69,307,175...69,312,254

ATP7B

ATPase copper transporting beta

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5

PMID:2409472 PMID:9311736 PMID:17264425 PMID:22692182 PMID:23235335 More...

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

ATXN7L3

ataxin 7 like 3

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:62,190,520...62,198,363
Ensembl chr16:62,191,981...62,195,891

B4GALNT2

beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1

NCBI chr16:69,538,167...69,575,416
Ensembl chr16:69,538,504...69,574,419

BARD1

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:1584056 PMID:2936742 PMID:9425226 PMID:9536098 PMID:11807980 More...

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

BCAR1

BCAR1 scaffold protein, Cas family member

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

NCBI chr 5:60,709,409...60,749,071
Ensembl chr 5:60,707,006...60,732,882

BCL2L1

BCL2 like 1

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

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

BIRC6

baculoviral IAP repeat containing 6

ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

NCBI chr14:74,879,597...75,138,462
Ensembl chr14:74,878,700...75,138,441

BLM

BLM RecQ like helicase

ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:7585968 PMID:9536098 PMID:16199547 PMID:17407155 PMID:17576681 More...

NCBI chr29:9,046,485...9,152,320
Ensembl chr29:9,045,373...9,152,254

BMP15

bone morphogenetic protein 15

ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

NCBI chr X:47,713,434...47,722,818
Ensembl chr X:47,713,957...47,719,777

BMPR2

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 More...

NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

BRCA1 DNA repair associated