female reproductive organ cancer - Ontology Report

mRNA, protein:increased expression:uterine cervix

PMID:10727981

RGD:2298570

NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270

TFRC

transferrin receptor

protein:increased expression:uterine cervix

PMID:9739406

RGD:2292022

NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998

tumor protein p53

disease_progression

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

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 chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393

APEX1

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:polymorphism: :p.D148E (human)

PMID:18503157 PMID:19292061

RGD:2315657 RGD:2315662

NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542

API5

apoptosis inhibitor 5

disease_progression

mRNA:increased expression

PMID:10780674

RGD:1643340

NCBI chr11:43,279,024...43,311,602
Ensembl chr11:43,759,414...43,791,975

BCL2L1

BCL2 like 1

protein:increased expression:uterine cervix

PMID:17311011

RGD:1643476

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

BIRC2

baculoviral IAP repeat containing 2

mRNA:decreased expression:uterine cervix

PMID:16504151

RGD:1643527

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

BRCA1 DNA repair associated

disease_progression

DNA:hypermethylation:promoter

PMID:12773202

RGD:2298941

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

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 chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462

BSG

basigin (Ok blood group)

disease_progression

Ensembl chr19:539,815...551,456

caspase 3

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

CCNB1

cyclin B1

mRNA, protein:increased expression:uterine cervix

PMID:16614707

RGD:2315938

NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332

CD55

CD55 molecule (Cromer blood group)

NCBI chr 1:182,923,369...182,962,518
Ensembl chr 1:187,201,081...187,240,350

CDC25A

cell division cycle 25A

NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115

CDC25C

cell division cycle 25C

NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698

CDH13

cadherin 13

DNA:hypermethylation:promoter

PMID:17548682

RGD:2293543

NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996

CDK1

cyclin dependent kinase 1

NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434

EBAG9

estrogen receptor binding site associated antigen 9

disease_progression

protein:increased expression:uterine cervix

PMID:16112176

RGD:2289851

NCBI chr 8:106,190,208...106,216,402
Ensembl chr 8:108,335,590...108,361,475

ERBB4

erb-b2 receptor tyrosine kinase 4

protein:increased expression: uterine cervix, cytoplasm

PMID:28042953

RGD:126790468

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

FANCA

FA complementation group A

no_association

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

PMID:19012493 PMID:21543111

RGD:11344886 RGD:11344901

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

GSTM1

glutathione S-transferase mu 1

susceptibility

Ensembl chr 1:127,979,238...128,010,411

HNRNPC

heterogeneous nuclear ribonucleoprotein C

protein:increased expression:cervical epithelium (human)

PMID:19319956

RGD:10054394

NCBI chr14:2,022,280...2,083,215

HOXB13

homeobox B13

mRNA:increased expression:uterine cervix

PMID:16803519

RGD:2314728

NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598

HSPA8

heat shock protein family A (Hsp70) member 8

Protein: increased expression

PMID:21137014

RGD:6218976

NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773

IL10

interleukin 10

disease_progression

protein:increased expression:serum

PMID:9541628

RGD:2317658

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

IL1B

interleukin 1 beta

susceptibility

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

PMID:25893807

RGD:36174015

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

KDM3A

lysine demethylase 3A

severity

human gene in a mouse model

PMID:23492365

RGD:9590219

NCBI chr2A:86,497,531...86,548,772

KMT2A

lysine methyltransferase 2A

human gene in a mouse model

PMID:22926525

RGD:9588221

NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100

KMT2E

lysine methyltransferase 2E (inactive)

human gene in a mouse model

PMID:25172963

RGD:9588553

NCBI chr 7:97,001,250...97,099,956
Ensembl chr 7:109,734,808...109,832,851

LOC100972994

HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)
DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)

PMID:16425277 PMID:25893807

RGD:36174015 RGD:36174023

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

LOC100982859

class I histocompatibility antigen, Gogo-B*0101 alpha chain

susceptibility

associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7

PMID:12543794

RGD:2314696

NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067

LOC100995226

HLA class II histocompatibility antigen, DP beta 1 chain

susceptibility

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

PMID:17349874

RGD:150429811

NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387

MACC1

MET transcriptional regulator MACC1

mRNA:increased expression:cervical region (human)

PMID:33603486

RGD:152999025

NCBI chr 7:20,826,105...20,904,602
Ensembl chr 7:20,144,960...20,170,423

MAP2K6

mitogen-activated protein kinase kinase 6

NCBI chr17:63,342,720...63,483,926
Ensembl chr17:68,730,011...68,870,454

MDC1

mediator of DNA damage checkpoint 1

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

PMID:21853275

RGD:9589052

NCBI chr 6:30,444,570...30,462,432
Ensembl chr 6:31,314,560...31,329,243

MED4

mediator complex subunit 4

severity

mRNA:decreased expression:uterine cervix (human)

PMID:19911042

RGD:12880436

NCBI chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836

MMP1

matrix metallopeptidase 1

disease_progression

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

PMID:14550952

RGD:7207024

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

MMP13

matrix metallopeptidase 13

mRNA:increased expression:uterine cervix

PMID:17243165

RGD:2306082

NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679

MTHFR

methylenetetrahydrofolate reductase

susceptibility

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

PMID:27771518

RGD:38501051

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

NDUFS6

NADH:ubiquinone oxidoreductase subunit S6

disease_progression

DNA, mRNA:amplification, increased expression:uterine cervix

PMID:18559093

RGD:2302384

NCBI chr 5:2,132,177...2,147,226
Ensembl chr 5:1,854,644...1,869,711

NRAS

NRAS proto-oncogene, GTPase

mRNA:increased expression:uterine cervix

PMID:14984964

RGD:2314838

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

phosphoglucomutase 3

NCBI chr 6:81,062,356...81,090,215
Ensembl chr 6:84,336,092...84,364,515

PRKN

parkin RBR E3 ubiquitin protein ligase

disease_progression

protein:decreased expression:uterine cervix (human)

PMID:28631565

RGD:13432557

NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770

PTK2

protein tyrosine kinase 2

disease_progression

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

PTPN11

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

PMID:18543080

RGD:39128248

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

PTPN6

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

PMID:18543080

RGD:39128248

NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830

RASSF1

Ras association domain family member 1

associated with Papillomavirus Infections;DNA:hypermethylation:promoter

PMID:18608185

RGD:2299861

NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392

SF3B4

splicing factor 3b subunit 4

severity

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

PMID:35853859

RGD:155882439

NCBI chr 1:125,268,113...125,273,405
Ensembl chr 1:128,924,317...128,929,610

SMAD2

SMAD family member 2

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

PMID:12894231

RGD:2299968

NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530

SMAD4

SMAD family member 4

mRNA:decreased expression:uterine cervix

PMID:12894231

RGD:2299968

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

mRNA:increased expression:cervix epithelium (human)

PMID:27581326

RGD:13441596

NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961

SPAG5

sperm associated antigen 5

severity

mRNA, protein:increased expression:cervix (human)

PMID:35853859

RGD:155882439

NCBI chr17:28,176,288...28,198,493
Ensembl chr17:28,680,492...28,702,050

TAP1

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs: :

PMID:12648582 PMID:18248301

RGD:6482260 RGD:6482272

NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978

TAP2

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs: :

PMID:12648582 PMID:18248301

RGD:6482260 RGD:6482272

NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750

TIMP4

TIMP metallopeptidase inhibitor 4

disease_progression

mRNA:increased expression:uterine cervix

PMID:15816637

RGD:2290434

NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192

TNF

tumor necrosis factor

susceptibility

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

PMID:19823053

RGD:2315116

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

TNFRSF10A

TNF receptor superfamily member 10a

NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724

tumor protein p53

ClinVar Annotator: match by term: Cervical cancer

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

TP73

tumor protein p73

susceptibility

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

PMID:30420492

RGD:151347580

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

XRCC1

X-ray repair cross complementing 1

DNA:polymorphism: :p.R194W

PMID:18851872

RGD:2302567

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

ZFHX3

zinc finger homeobox 3

mRNA:increased expression:uterine cervix

PMID:11812077

RGD:2315697

NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360

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

Ensembl chr19:1,188,537...1,210,677

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 chr 1:129,937,993...129,983,747

BAX

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

PMID:17694953

RGD:1643352

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

BIRC2

baculoviral IAP repeat containing 2

disease_progression

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

PMID:12208731

RGD:1643529

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

BRIP1

BRCA1 interacting DNA helicase 1

severity

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

PMID:24708616

RGD:11252104

NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462

CCL22

C-C motif chemokine ligand 22

severity

NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213

CCR4

C-C motif chemokine receptor 4

severity

NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564

CD82

CD82 molecule

protein:decreased expression:uterine cervix

PMID:15642213

RGD:2289399

NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876

CSF1R

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

PMID:18565574

RGD:2299119

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

FGF7

fibroblast growth factor 7

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

PMID:17306351

RGD:2289084

NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163

fibroblast growth factor receptor 3

no_association

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

PMID:11605053

RGD:38500202

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

FOS

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

PMID:15514944

RGD:2293757

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

FOSL1

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

PMID:15514944

RGD:2293757

NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304

FOXP3

forkhead box P3

severity

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

PDPN

podoplanin

disease_progression

NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584

SMAD3

SMAD family member 3

severity

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

TIMP2

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

PMID:16619570

RGD:2290402

NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649

TMBIM6

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

PMID:15337562

RGD:2291959

NCBI chr12:38,986,844...39,010,307
Ensembl chr12:39,879,951...39,902,303

TNFRSF4

TNF receptor superfamily member 4

severity

Ensembl chr 1:1,168,935...1,171,337

TNFSF4

TNF superfamily member 4

severity

NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845

tumor protein p53

disease_progression

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

TYMP

thymidine phosphorylase

disease_progression

NCBI chr22:30,772,088...30,776,618

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 chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542

BAG1

BAG cochaperone 1

protein:increased expression:uterine cervix

PMID:10047462

RGD:2293889

NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167

BAK1

BCL2 antagonist/killer 1

DNA:missense mutations:exon:multiple (human)

PMID:12771926

RGD:2315701

NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211

cyclin D3

NCBI chr 6:41,518,421...41,630,103
Ensembl chr 6:42,820,569...42,827,498

CD9

CD9 molecule

disease_progression

NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385

EFEMP2

EGF containing fibulin extracellular matrix protein 2

exacerbates

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

PMID:24737201

RGD:42722607

NCBI chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950

ERAP1

endoplasmic reticulum aminopeptidase 1

DNA:SNPs (human)

NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365

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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

GSTM1

glutathione S-transferase mu 1

onset

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

PMID:10813720

RGD:7495819

Ensembl chr 1:127,979,238...128,010,411

MGMT

O-6-methylguanine-DNA methyltransferase

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

PMID:17234722

RGD:2317690

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

PTGS1

prostaglandin-endoperoxide synthase 1

disease_progression

NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283

PTK2

protein tyrosine kinase 2

protein:increased tyrosine phosphorylation:cervix

PMID:14675348

RGD:2292568

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

SPARC

secreted protein acidic and cysteine rich

DNA:hypermethylation

NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750

TAP2

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNP: :(rs4148876)(human)

PMID:17366619

RGD:6482264

NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750

TK1

thymidine kinase 1

protein:increased expression:serum (human)

PMID:11474248

RGD:2317243

NCBI chr17:72,251,416...72,265,308
Ensembl chr17:77,803,749...77,816,747

TSG101

tumor susceptibility 101

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

PMID:10505033 PMID:10600297

RGD:2291851 RGD:2291852

NCBI chr11:18,518,110...18,564,814
Ensembl chr11:18,189,868...18,248,149

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 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192

BCL2

BCL2 apoptosis regulator

disease_progression

protein:increased expression:uterine cervix

PMID:18561741

RGD:2298889

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

BRCA1 DNA repair associated

DNA:deletions:exon

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

CADM1

cell adhesion molecule 1

severity

NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324

CCND1

cyclin D1

protein:increased expression:uterine cervix

NCBI chr11:64,737,006...64,750,353

CCNE1

cyclin E1

protein:increased expression:uterine cervix

NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295

CCNG1

cyclin G1

protein:increased expression:uterine cervix

PMID:16845792

RGD:2316022

NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728

CD274

CD274 molecule

severity

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

PMID:23521696

RGD:40822817

NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402

CD46

CD46 molecule

protein:increased expression:uterine cervix

PMID:9358772

RGD:2293549

NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046

cadherin 1

DNA:hypermethylation:uterine cervix

PMID:17894941

RGD:2289490

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

CDK4

cyclin dependent kinase 4

disease_progression

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

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

CDKN1A

cyclin dependent kinase inhibitor 1A

protein:increased expression:epithelial cell:

PMID:9546362

RGD:8662446

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

CDKN1B

cyclin dependent kinase inhibitor 1B

disease_progression

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

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

CDKN2A

cyclin dependent kinase inhibitor 2A

disease_progression

protein:increased expression
DNA:hypermethylation
protein:increased expression:uterine cervix

PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346

RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058

NCBI chr 9:21,803,862...21,831,322

CDKN2B

cyclin dependent kinase inhibitor 2B

protein:increased expression:uterine cervix

PMID:17632454

RGD:2289695

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

CSF1R

colony stimulating factor 1 receptor

disease_progression

protein:increased expression:uterine cervix

PMID:18565574

RGD:2299119

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

CTNNA1

catenin alpha 1

disease_progression

protein:decreased expression:uterine cervix

PMID:11161853

RGD:2289797

NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547

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 chr 3:194,386,263...194,648,015
Ensembl chr 3:204,323,724...204,584,987

FASLG

Fas ligand

associated with Papillomavirus Infections

PMID:17433060

RGD:2290052

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

HDAC1

histone deacetylase 1

protein:increased expression:uterine cervix

PMID:19147762

RGD:2306200

NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410

HDAC2

histone deacetylase 2

protein:increased expression:uterine cervix

PMID:19147762

RGD:2306200

NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004

HDAC6

histone deacetylase 6

protein:increased expression:uterine cervix

PMID:19147762

RGD:2306200

NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642

IGFBP3

insulin like growth factor binding protein 3

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

PMID:14675666 PMID:17709267

RGD:2290004 RGD:2290021

NCBI chr 7:46,564,234...46,573,145

IL1B

interleukin 1 beta

susceptibility

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

PMID:25893807

RGD:36174015

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

matrix Gla protein

NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523

MLH1

mutL homolog 1

protein:increased expression:uterine cervix

PMID:15807307

RGD:2293515

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

MMP2

matrix metallopeptidase 2

disease_progression

protein:increased expression:uterine cervix

PMID:16619570

RGD:2290402

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

MSH2

mutS homolog 2

protein:increased expression:uterine cervix

PMID:15807307

RGD:2293515

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

MTHFR

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

PMID:17303386

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

PDCD1

programmed cell death 1

severity

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

PMID:23521696

RGD:40822817

NCBI chr12:130,849,353...130,858,776

PHB1

prohibitin 1

protein:increased expression:uterine cervix

PMID:16426920

RGD:2292398

NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790

POU4F1

POU class 4 homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:20190800

NCBI chr13:59,821,614...59,829,671

phosphatase and tensin homolog

protein:decreased expression:uterine cervix

PMID:17672936

RGD:2298701

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

PTGS2

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:uterine cervix, epithelial cell

PMID:18565574

RGD:2299119

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

RB1

RB transcriptional corepressor 1

associated with Adenocarcinoma

PMID:18234283

RGD:2299896

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

RELA

RELA proto-oncogene, NF-kB subunit

disease_progression

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

PMID:16850495

RGD:2298759

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

SKP2

S-phase kinase associated protein 2

severity

associated with Papillomavirus Infections

PMID:19094580

RGD:2315036

NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311

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 chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425

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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

TERT

telomerase reverse transcriptase

disease_progression

protein:increased expression:uterine cervix

PMID:17644806

RGD:2291985

Ensembl chr 5:1,300,960...1,338,872

THRB

thyroid hormone receptor beta

DNA:loss of heterozygosity (human)

PMID:11483913

RGD:2315099

NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960

TOP2A

DNA topoisomerase II alpha

NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207

TP63

tumor protein p63

disease_progression

NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

TP73

tumor protein p73

disease_progression

mRNA:increased expression:uterine cervix

PMID:11870517

RGD:2290589

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

VEGFA

vascular endothelial growth factor A

protein:increased expression:uterine cervix

PMID:19723043

RGD:2315456

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

XIAP

X-linked inhibitor of apoptosis

protein:increased expression:uterine cervix

PMID:18325467

RGD:2315850

NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606

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 chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916

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 chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

INSR

insulin receptor

disease_progression

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

PMID:17556377

RGD:2290454

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

PDGFB

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

PMID:8504434

RGD:2292200

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

PDGFRB

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

PMID:8504434

RGD:2292200

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

TIMP3

TIMP metallopeptidase inhibitor 3

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

PMID:15507671

RGD:2290418

NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964

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 chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Dysgerminoma

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

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

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 chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

INHA

inhibin subunit alpha

protein:increased expression:tumor

PMID:11720904

RGD:2290380

NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386

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 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

POU5F1

POU class 5 homeobox 1

NCBI chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426

SET

SET nuclear proto-oncogene

ClinVar Annotator: match by term: Dysgerminoma

PMID:26822237

NCBI chr 9:99,806,876...99,819,825
Ensembl chr 9:128,473,806...128,484,563

ST14

ST14 transmembrane serine protease matriptase

protein:increased expression:ovary

PMID:16439987

RGD:2315091

NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559

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 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783

ANGPT2

angiopoietin 2

protein:increased expression:endometrium epithelium

PMID:17295646

RGD:2293852

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

ARID1A

AT-rich interaction domain 1A

treatment

human cell in mouse model

PMID:21900401

RGD:126725086

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

axin 2

NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086

BET1L

Bet1 golgi vesicular membrane trafficking protein like

disease_progression

NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762

CD55

CD55 molecule (Cromer blood group)

NCBI chr 1:182,923,369...182,962,518
Ensembl chr 1:187,201,081...187,240,350

EBAG9

estrogen receptor binding site associated antigen 9

protein:increased expression:endometrium

PMID:16112719

RGD:2289850

NCBI chr 8:106,190,208...106,216,402
Ensembl chr 8:108,335,590...108,361,475

FOXO3

forkhead box O3

severity

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

PMID:26045339

RGD:11530998

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

GPX3

glutathione peroxidase 3

mRNA:decreased expression:endometrium (rat)

PMID:19426485

RGD:2312621

NCBI chr 5:146,447,939...146,456,476

IRF1

interferon regulatory factor 1

DNA:deletions (rat)

NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035

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 chr 1:58,042,794...58,045,536

KRAS

KRAS proto-oncogene, GTPase

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

PMID:10775052

RGD:1600499

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

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 chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

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

Ensembl chr16:30,489,362...30,498,017

PDCD10

programmed cell death 10

disease_progression

protein:increased expression:endometrium (human)

PMID:32186778

RGD:401827111

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

PMID:21478295

RGD:13441595

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

phosphatase and tensin homolog

ameliorates

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

PTGES

prostaglandin E synthase

protein:increased expression:endometrium

PMID:11592775

RGD:2300089

NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020

RRM2

ribonucleotide reductase regulatory subunit M2

DNA:amplification (rat)

PMID:15942940

RGD:2324953

NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640

TGFBR3

transforming growth factor beta receptor 3

mRNA:decreased expression:endometrium

PMID:15745937

RGD:1579943

NCBI chr 1:94,337,275...94,539,229
Ensembl chr 1:93,080,452...93,285,587

tumor protein p53

disease_progression

DNA:missense mutations
protein:increased expression:endometrium

PMID:1540970

RGD:2290541

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

TSG101

tumor susceptibility 101

mRNA:alternative forms

PMID:10027311

RGD:2291854

NCBI chr11:18,518,110...18,564,814
Ensembl chr11:18,189,868...18,248,149

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 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949

AFP

alpha fetoprotein

severity

protein:increased expression:serum

PMID:17659325

RGD:2292039

NCBI chr 4:50,739,197...50,758,459
Ensembl chr 4:56,571,519...56,590,391

AKT2

AKT serine/threonine kinase 2

severity

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

PMID:22146979

RGD:13432140

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

ANG

angiogenin

protein:increased expression:serum

PMID:9119882

RGD:2317659

NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393

APC regulator of WNT signaling pathway

severity
treatment

protein:increased expression:endometrium (human)
DNA:mutations, haplotype:cds:multiple (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 chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

APEX1

apurinic/apyrimidinic endodeoxyribonuclease 1

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

PMID:11465542

RGD:2315878

NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542

androgen receptor

NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357

ARID1A

AT-rich interaction domain 1A

onset

protein:decreased expression:endometrium (human)

PMID:23887303

RGD:126779522

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

ATM serine/threonine kinase

susceptibility

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

BAD

BCL2 associated agonist of cell death

disease progression

protein:altered expression:endometrium (human)

PMID:24645842

RGD:13432164

NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257

BAG1

BAG cochaperone 1

protein:increased expression:endometrium

PMID:15297164

RGD:2293886

NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167

BCL2L1

BCL2 like 1

protein:increased expression:endometrium

PMID:17311011

RGD:1643476

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

BRCA2

BRCA2 DNA repair associated

DNA:deletion, frameshift mutation

PMID:10451700

RGD:2296027

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

BST2

bone marrow stromal cell antigen 2

treatment

protein:increased expression:endometrium:

PMID:22729361 PMID:26498112

RGD:14398492 RGD:14398498

NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728

CD59

CD59 molecule (CD59 blood group)

protein:increased expression:endometrium

PMID:10637067

RGD:2293548

NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157

CD9 molecule

NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385

CDC25B

cell division cycle 25B

NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179

CDC25C

cell division cycle 25C

DNA:mutation (human)

NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698

cadherin 1

OMIM

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

CDKN2A

cyclin dependent kinase inhibitor 2A

DNA:deletions:exon (rat)

PMID:18558284

RGD:2316081

NCBI chr 9:21,803,862...21,831,322

CDKN2B

cyclin dependent kinase inhibitor 2B

DNA:deletion (rat)

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

CHI3L1

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

PMID:17023034

RGD:4892642

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

COMT

catechol-O-methyltransferase

susceptibility
no_association

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

PMID:12810635 PMID:15285606 PMID:17442187

RGD:2289714 RGD:2289721 RGD:2289723

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

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 chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554

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 chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

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 chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447

DHFR

dihydrofolate reductase

ClinVar Annotator: match by term: MSH3-related condition

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

NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003

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 chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950

EGF

epidermal growth factor

severity

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

PMID:19319135

RGD:13673915

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

ERRFI1

ERBB receptor feedback inhibitor 1

OMIM:608089

MouseDO

NCBI chr 1:6,771,619...6,786,217
Ensembl chr 1:8,011,848...8,033,674

FGF1

fibroblast growth factor 1

disease_progression

mRNA:increased expression:myometrium

PMID:8685603

RGD:2298516

NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001

FGF2

fibroblast growth factor 2

disease_progression

mRNA, protein:increased expression:myometrium

PMID:8685603

RGD:2298516

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

GHRH

growth hormone releasing hormone

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

PMID:10022420 PMID:15784701

RGD:2289974 RGD:2301423

NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240

homeobox B13

NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598

HTRA2

HtrA serine peptidase 2

protein:decreased expression:endometrium (human)

PMID:19424634

RGD:5688747

NCBI chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152

IL10

interleukin 10

protein:increased expression:serum

PMID:9119882

RGD:2317659

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

JAK1

Janus kinase 1

severity

DNA:frameshift mutations

PMID:29121062

RGD:150524355

NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991

JUP

junction plakoglobin

protein:decreased expression:endometrium

PMID:12635138

RGD:2301747

NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479

sulfotransferase 1A1

lymphotoxin alpha

susceptibility

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

PMID:17045328

RGD:2313259

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

MCPH1

microcephalin 1

DNA:deletions:exons:multiple (human)

PMID:20638839

RGD:9589018

NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394

MLH3

mutL homolog 3

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

ClinVar Annotator: match by term: Endometrial cancer

ClinVar
OMIM

NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749

MMP7

matrix metallopeptidase 7

disease_progression

protein:increased expression:endometrium

PMID:17352221

RGD:2298522

NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099

MRE11

MRE11 homolog, double strand break repair nuclease

DNA:deletions:intron:IVS4_delT (human)

PMID:15048091

RGD:2317737

NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966

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 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469

MSH6

mutS homolog 6

OMIM

NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

MUTYH

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial cancer, somatic

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

NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645

NOTCH1

notch receptor 1

mRNA:increased expression:endometrium

PMID:11078798

RGD:2299153

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

NOTCH4

notch receptor 4

mRNA:decreased expression:endometrium

PMID:11078798

RGD:2299153

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

phosphoglucomutase 1

NCBI chr 1:62,849,451...62,916,359
Ensembl chr 1:64,658,599...64,725,496

PIK3CB

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

onset

mRNA:increased expression:endometrium (human)

PMID:28002804

RGD:13674181

NCBI chr 3:135,685,120...135,867,096
Ensembl chr 3:143,288,563...143,431,314

PIK3CD

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

NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

PMID:21984976

RGD:13674179

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

POLE

DNA polymerase epsilon, catalytic subunit

onset
ameliorates
disease_progression

DNA:polymorphisms:multiple (human)
DNA:missense mutations: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 chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

phosphatase and tensin homolog

OMIM:608089

MouseDO

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

RAD21

RAD21 cohesin complex component

onset

DNA:CNV: (human)

NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421

RNF43

ring finger protein 43

DNA:mutations:multiple: (human)

PMID:25344691

RGD:151361224

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

SHBG

sex hormone binding globulin

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

PMID:17315164

RGD:1625245

NCBI chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552

SMAD2

SMAD family member 2

protein:increased expression:endometrium

PMID:12883738

RGD:2299970

NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530

SMAD3

SMAD family member 3

protein:increased expression:endometrium

PMID:12883738

RGD:2299970

NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185

SMAD7

SMAD family member 7

disease_progression

mRNA:increased expression:endometrium

PMID:15661223

RGD:2299963

NCBI chr18:42,306,324...42,337,214

SOCS2

suppressor of cytokine signaling 2

DNA:hypermethylated

NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748

SPAG9

sperm associated antigen 9

protein:increased expression:serum:

PMID:24460345

RGD:30296659

NCBI chr17:45,053,292...45,211,488
Ensembl chr17:49,924,650...50,081,918

STK11

serine/threonine kinase 11

OMIM:608089

Ensembl chr19:1,188,537...1,210,677

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 4:54,377,681...54,396,619
Ensembl chr 4:60,713,392...60,733,229

TFF1

trefoil factor 1

mRNA, protein:increased expression:endometrium

PMID:10835496

RGD:2298569

NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270

TIMP4

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:endometrium

PMID:15273280

RGD:2290435

NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192

TNFRSF1A

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

PMID:8920779

RGD:5131439

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

TNFRSF1B

TNF receptor superfamily member 1B

protein:increased expression:serum (human)

PMID:8920779

RGD:5131439

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

tumor protein p53

OMIM:608089

MouseDO

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

TYMP

thymidine phosphorylase

NCBI chr22:30,772,088...30,776,618

WT1

WT1 transcription factor

disease_progression

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

endometrial carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCA3

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427

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 chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

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 chr14:55,213,600...55,265,198
Ensembl chr14:74,060,653...74,112,165

ARID1A

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

ATM serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

AURKA

aurora kinase A

mRNA, protein:increased expression:endometrium

PMID:16311121

RGD:2293878

NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339

AURKB

aurora kinase B

disease_progression

mRNA, protein:increased expression:endometrium

PMID:16311121

RGD:2293878

NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129

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 chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145

BRAF

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:28492532

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

BRCA2

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

BRICD5

BRICHOS domain containing 5

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995

BSG

basigin (Ok blood group)

disease_progression

protein:increased expression:endometrium

PMID:17342307

RGD:2296029

Ensembl chr19:539,815...551,456

C9H11orf65

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

CASKIN1

CASK interacting protein 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,035,826...1,055,005

cyclin B1

NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332

CD82

CD82 molecule

disease_progression

NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876

cadherin 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

CDH13

cadherin 13

disease_progression

DNA:hypomethylation

NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996

CHEK2

checkpoint kinase 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr22:9,757,038...9,811,171

DHFR

dihydrofolate reductase

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003

DNASE1L2

deoxyribonuclease 1 like 2

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391

E4F1

E4F transcription factor 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695

ECI1

enoyl-CoA delta isomerase 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,097,165...1,108,726
Ensembl chr16:2,339,864...2,351,385

EGFR

epidermal growth factor receptor

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:28492532

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

ERAP1

endoplasmic reticulum aminopeptidase 1

disease_progression

NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365

FGF7

fibroblast growth factor 7

mRNA:decreased expression:endometrium

PMID:9070494

RGD:2301091

NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163

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 chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

GRB2

growth factor receptor bound protein 2

severity

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

PMID:22459351

RGD:13441552

NCBI chr17:69,265,307...69,352,835
Ensembl chr17:74,817,471...74,903,796

GSK3B

glycogen synthase kinase 3 beta

severity

protein:increased expression:endometrium (human)

PMID:27050373

RGD:13524565

NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771

HDAC3

histone deacetylase 3

disease_progression

NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322

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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078

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 chr 1:58,042,794...58,045,536

KISS1

KiSS-1 metastasis suppressor

disease_progression

mRNA:decreased expression:endometrium

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

LOC100977490

ras-related protein Rab-26

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,006,847...1,012,263

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 chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

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

Ensembl chr16:30,489,362...30,498,017

MLH1

mutL homolog 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

MLH3

mutL homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749

MLST8

MTOR associated protein, LST8 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828

MMP8

matrix metallopeptidase 8

NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736

MMP9

matrix metallopeptidase 9

disease_progression

protein:increased expression:endometrium

PMID:12487935

RGD:2298523

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

MSH2

mutS homolog 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

MSH3

mutS homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469

MSH6

mutS homolog 6

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

MUTYH

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645

NCOA1

nuclear receptor coactivator 1

mRNA:increased expression:endometrium

PMID:14751175

RGD:2298984

NCBI chr2A:24,485,068...24,764,135
Ensembl chr2A:24,733,117...24,859,488

NCOR2

nuclear receptor corepressor 2

mRNA:increased expression:endometrium

PMID:14751175

RGD:2298984

NCBI chr12:121,913,368...122,155,031
Ensembl chr12:126,201,779...126,372,745

NOS3

nitric oxide synthase 3

disease_progression

protein:increased expression:endometrium

PMID:9276029

RGD:2292090

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

PGP

phosphoglycolate phosphatase

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,070,291...1,073,123

PIK3CA

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

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

PMID:23636398

RGD:13628733

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

PKD1

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:604,366...605,560

PMS2

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984

POLD1

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12376507 PMID:17145065 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611

POLE

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

PRKCA

protein kinase C alpha

NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903

phosphatase and tensin homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

PTGS1

prostaglandin-endoperoxide synthase 1

disease_progression

NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283

PTK2

protein tyrosine kinase 2

severity

protein:increased expression:endometrium

PMID:15536334

RGD:2292562

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

RAD51C

RAD51 paralog C

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701

RASSF1

Ras association domain family member 1

DNA, protein:hypermethylation, decreased expression:promoter,

PMID:18469797

RGD:2299863

NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392

RNPS1

RNA binding protein with serine rich domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,110,249...1,124,975

RUNX3

RUNX family transcription factor 3

DNA:promoter:hypermethylated

PMID:18572225

RGD:2302555

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

stratifin

NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580

SMAD4

SMAD family member 4

severity

mRNA:decreased expression:endometrium
DNA:substitutions:promoter

PMID:10331746 PMID:15385128

RGD:2299966 RGD:2300009

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

SPARC

secreted protein acidic and cysteine rich

DNA, mRNA, protein:hypermethylation, altered expression

PMID:17487382

RGD:2300020

NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750

STK11

serine/threonine kinase 11

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:25741868 PMID:26467025 PMID:28492532

Ensembl chr19:1,188,537...1,210,677

TACC3

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019

TFF1

trefoil factor 1

disease_progression

protein:increased expression:endometrium

PMID:9221798

RGD:2298572

NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270

TIMP1

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:endometrium

PMID:12487935

RGD:2298523

NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419

TIMP2

TIMP metallopeptidase inhibitor 2

disease_progression

mRNA:decreased expression:endometrium

PMID:17009991

RGD:2290360

NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649

TIMP4

TIMP metallopeptidase inhibitor 4

disease_progression

protein:increased expression:endometrium

PMID:12798711

RGD:2290420

NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192

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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

TRAF7

TNF receptor associated factor 7

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031

TSC2

TSC complex subunit 2

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

WNT2

Wnt family member 2

mRNA:decreased expression:endometrium

NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862

WNT3

Wnt family member 3

mRNA:decreased expression:tumor:vs normal endometrium

NCBI chr17:10,685,160...10,741,402
Ensembl chr17:10,862,310...10,918,865

WNT4

Wnt family member 4

mRNA:decreased expression:tumor:vs normal endometrium

NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801

WNT5A

Wnt family member 5A

mRNA:decreased expression:tumor:vs normal endometrium

NCBI chr 3:55,396,279...55,418,579
Ensembl chr 3:56,621,380...56,638,051

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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

BRCA2

BRCA2 DNA repair associated

susceptibility

DNA:deletion: :6174delT

PMID:16650962

RGD:2289045

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

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 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

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 chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

AREG

amphiregulin

mRNA, protein:increased expression:endometrium

PMID:16962163

RGD:2289950

NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142

ATP7B

ATPase copper transporting beta

disease_progression

protein:increased expression:endometrium

PMID:15790435

RGD:2298864

NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839

BIRC5

baculoviral IAP repeat containing 5

protein:increased expression:endometrium

PMID:16803539

RGD:2298940

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

BMP4

bone morphogenetic protein 4

NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752

CA9

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

PMID:17452774

RGD:2298945

NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340

CCNE1

cyclin E1

protein:increased expression:endometrium

PMID:17483252

RGD:2289230

NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295

cadherin 1

protein:decreased expression:endometrium

PMID:18295959

RGD:2296045

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

CDK2

cyclin dependent kinase 2

severity

NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945

CDKN1B

cyclin dependent kinase inhibitor 1B

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

CHEK2

checkpoint kinase 2

susceptibility

NCBI chr22:9,757,038...9,811,171

catenin beta 1

DNA:mutations

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

DAXX

death domain associated protein

protein:increased expression:ovary:

PMID:23539629

RGD:9587820

NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717

DNMT1

DNA methyltransferase 1

mRNA,protein:increased expression:uterus:

PMID:15721400

RGD:9588596

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

DNMT3B

DNA methyltransferase 3 beta

mRNA,protein:increased expression:uterus:

PMID:15721400

RGD:9588596

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

EGFR

epidermal growth factor receptor

mRNA:decreased expression:endometrium

PMID:16962163

RGD:2289950

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

enolase 2

NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342

ERBB2

erb-b2 receptor tyrosine kinase 2

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

ERBB3

erb-b2 receptor tyrosine kinase 3

NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994

ERBB4

erb-b2 receptor tyrosine kinase 4

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

ESR1

estrogen receptor 1

severity

protein:increased phosphorylation

PMID:14559803

RGD:4105451

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

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 chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

IGFBP3

insulin like growth factor binding protein 3

disease_progression

NCBI chr 7:46,564,234...46,573,145

INHA

inhibin subunit alpha

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

PMID:17143484

RGD:2290368

NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386

INHBA

inhibin subunit beta A

protein:decreased expression:endometrium

PMID:16423381

RGD:2301688

NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097

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 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

KRAS

KRAS proto-oncogene, GTPase

associated with Ovarian Neoplasms

PMID:19542870

RGD:2314910

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

LNPEP

leucyl and cystinyl aminopeptidase

associated with Endometrial Neoplasms

PMID:15218296

RGD:2314922

NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876

MAPK1

mitogen-activated protein kinase 1

treatment

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

MAPK3

mitogen-activated protein kinase 3

treatment

Ensembl chr16:30,489,362...30,498,017

MSLN

mesothelin

CTD Direct Evidence: marker/mechanism

PMID:14576474

Ensembl chr16:777,146...783,449

NK2 homeobox 1

DNA:hypermethylation

platelet derived growth factor receptor alpha

protein:decreased expression:ovary

PMID:15791568

RGD:2298578

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

PDGFRB

platelet derived growth factor receptor beta

protein:increased expression:ovary

PMID:15791568

RGD:2298578

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

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 chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

phosphatase and tensin homolog

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

PMID:11156411 PMID:17418409

RGD:12802357 RGD:2289817

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

SPP1

secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

ST14

ST14 transmembrane serine protease matriptase

associated with Ovarian Neoplasms;protein:increased expression:ovary

PMID:16439987

RGD:2315091

NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559

WIF1

WNT inhibitory factor 1

mRNA:increased expression:ovary

PMID:16436637

RGD:2298535

NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807

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 chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701

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 chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

NLRP7

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844

POU5F1

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:18440631

NCBI chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426

granulosa cell tumor

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AMH

anti-Mullerian hormone

disease_progression

NCBI chr19:1,260,219...1,263,395

BMP4

bone morphogenetic protein 4

mRNA:increased expression:ovary

PMID:16488995

RGD:1643593

NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752

CCND2

cyclin D2

mRNA:increased expression:ovary

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

CDKN2A

cyclin dependent kinase inhibitor 2A

NCBI chr 9:21,803,862...21,831,322

CDKN2B

cyclin dependent kinase inhibitor 2B

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

CMKLR1

chemerin chemokine-like receptor 1

CTD Direct Evidence: marker/mechanism

PMID:29653259

NCBI chr12:105,859,702...105,911,010
Ensembl chr12:109,260,130...109,261,271

catenin beta 1

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

FANCF

FA complementation group F

disease_progression
susceptibility

DNA:hypermethylation:promoter

PMID:15574200 PMID:21915857

RGD:11049141 RGD:2298508

NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176

FHIT

fragile histidine triad diadenosine triphosphatase

DNA:hypermethylation:promoter, ovary

PMID:15574200

RGD:2298508

NCBI chr 3:59,670,777...61,177,974

FSHR

follicle stimulating hormone receptor

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

NCBI chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258

GNAI2

G protein subunit alpha i2

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

PMID:2116665

NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988

KIT

KIT proto-oncogene, receptor tyrosine kinase

mRNA:decreased expression:ovary

PMID:18028988

RGD:2302173

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

LEPR

leptin receptor

CTD Direct Evidence: marker/mechanism

PMID:28861689

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

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 chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780

MGMT

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

PMID:14970867

RGD:2317693

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

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 chr 7:99,021,209...99,140,652
Ensembl chr 7:111,748,463...111,866,044

PTGS2

prostaglandin-endoperoxide synthase 2

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

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

RARRES2

retinoic acid receptor responder 2

CTD Direct Evidence: marker/mechanism

PMID:29653259

NCBI chr 7:141,953,600...141,956,991
Ensembl chr 7:154,106,275...154,109,635

SGK1

serum/glucocorticoid regulated kinase 1

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

NCBI chr 6:131,936,397...132,082,670
Ensembl chr 6:136,033,851...136,180,121

SMAD family member 1

NCBI chr 4:137,822,269...137,899,700
Ensembl chr 4:149,481,836...149,558,135

SMAD family member 5

NCBI chr 5:131,524,229...131,574,119
Ensembl chr 5:137,664,067...137,712,635

ST14

ST14 transmembrane serine protease matriptase

protein:increased expression:ovary

PMID:16439987

RGD:2315091

NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559

VEGFA

vascular endothelial growth factor A

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

WIF1

WNT inhibitory factor 1

mRNA:increased expression:ovary

PMID:16488995

RGD:1643593

NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807

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 chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988

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 chr10:47,451,293...47,538,062
Ensembl chr10:49,588,168...49,675,543

ABCB1

ATP binding cassette subfamily B member 1

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

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

ABCC3

ATP binding cassette subfamily C member 3

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

Ensembl chr17:49,603,268...49,659,318

ABCG2

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

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

NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157

ABI3

ABI family member 3

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

NCBI chr17:8,381,551...8,394,537
Ensembl chr17:8,364,561...8,376,930

ABRAXAS1

abraxas 1, BRCA1 A complex subunit

ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome

PMID:25741868 PMID:28492532 PMID:32566746

NCBI chr 4:40,711,139...40,736,763
Ensembl chr 4:46,556,892...46,581,573

ACACA

acetyl-CoA carboxylase alpha

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

NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651

ACBD4

acyl-CoA binding domain containing 4

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

NCBI chr17:12,183,444...12,194,687
Ensembl chr17:12,359,577...12,371,106

ACSF2

acyl-CoA synthetase family member 2

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

NCBI chr17:44,520,551...44,569,248
Ensembl chr17:49,394,289...49,443,201

ADAM11

ADAM metallopeptidase domain 11

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

NCBI chr17:12,541,921...12,564,625
Ensembl chr17:12,716,159...12,736,786

AIM2

absent in melanoma 2

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

PMID:25741868 PMID:28492532

NCBI chr 1:134,413,232...134,540,344
Ensembl chr 1:138,210,946...138,221,753

AKAP1

A-kinase anchoring protein 1

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

NCBI chr17:51,162,993...51,199,202
Ensembl chr17:56,023,381...56,058,744

AMH

anti-Mullerian hormone

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

NCBI chr19:1,260,219...1,263,395

AMHR2

anti-Mullerian hormone receptor type 2

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

NCBI chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175

ANKFN1

ankyrin repeat and fibronectin type III domain containing 1

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

NCBI chr17:50,232,065...50,592,044
Ensembl chr17:55,166,165...55,449,215

ANKRD31

ankyrin repeat domain 31

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

NCBI chr 5:40,060,599...40,236,468
Ensembl chr 5:40,673,567...40,849,519

ANKRD40

ankyrin repeat domain 40

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

NCBI chr17:44,787,502...44,802,232
Ensembl chr17:49,660,790...49,668,423

AOPEP

aminopeptidase O (putative)

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

PMID:25741868 PMID:28492532 PMID:32566746

NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201

APC regulator of WNT signaling pathway

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

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

ARHGAP27

Rho GTPase activating protein 27

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

NCBI chr17:11,894,453...11,933,618
Ensembl chr17:12,069,342...12,105,357

ARL17A

ADP ribosylation factor like GTPase 17A

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

NCBI chr17:10,923,688...10,990,970

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 chr17:13,994,346...13,996,327
Ensembl chr17:14,241,192...14,241,797

ASB16

ankyrin repeat and SOCS box containing 16

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

NCBI chr17:13,216,586...13,226,101
Ensembl chr17:13,380,166...13,388,638

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: 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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

ATP5MC1

ATP synthase membrane subunit c locus 1

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

NCBI chr17:8,641,273...8,644,395
Ensembl chr17:8,828,117...8,831,190

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 chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839

ATXN7L3

ataxin 7 like 3

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

NCBI chr17:13,197,939...13,206,017
Ensembl chr17:13,362,312...13,369,667

B4GALNT2

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

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

NCBI chr17:8,432,636...8,460,533
Ensembl chr17:8,414,549...8,442,036

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, 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: 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 chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145

BCAR1

BCAR1 scaffold protein, Cas family member

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

NCBI chr16:55,798,578...55,838,448
Ensembl chr16:75,150,122...75,188,775

BCL2L1

BCL2 like 1

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

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

BIRC6

baculoviral IAP repeat containing 6

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

NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245

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-ovarian cancer, familial, susceptibility to, 4 | 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 chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864

BMP15

bone morphogenetic protein 15

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

NCBI chr X:43,071,039...43,076,941
Ensembl chr X:50,783,925...50,791,369

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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072

BRCA1 DNA repair associated

susceptibility