Uterine Neoplasms - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Uterine Neoplasms	go back to main search page
Accession:	DOID:9004268	browse the term
Definition:	Tumors or cancer of the UTERUS.
Synonyms:	exact_synonym:	neoplasm of uterus; tumour of uterus; uterine neoplasm; uterine tumor; uterus neoplasm; uterus neoplasms
	primary_id:	MESH:D014594
	xref:	EFO:0003859

show annotations for term's descendants Sort by:
Rat (478) Mouse (476) Human (4327) Chinchilla (424) Bonobo (455) Dog (457) Squirrel (430) Pig (448) Green Monkey (443) Naked Mole-rat (422) All
Genes (467) QTL (5) Cell Lines (6)

Uterine Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Brca1 associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

cyclin-dependent kinase inhibitor 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

catenin beta 1

protein:decreased phosphorylation, increased expression:uterus, nucleus

RGD

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

Fms related receptor tyrosine kinase 1

Uterine sarcomas

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

H19 imprinted maternally expressed transcript

disease_progression

mRNA:increased expression:myometrium

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752

G

homeo box B9

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,237,312...81,240,818
Ensembl chr10:81,237,312...81,240,818

G

inhibin subunit beta A

CTD Direct Evidence: marker/mechanism

NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:178,185,418...178,218,484

G

NK2 homeobox 1

DNA:hypermethylation

RGD

NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Neoplasm of uterus

PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More...

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

platelet derived growth factor receptor alpha

RGD

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

prominin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527

G

proteasome 20S subunit beta 9

RGD

NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512

G

SMAD family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

telomerase reverse transcriptase

mRNA:increased expression:serum

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

anogenital venereal wart

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

RGD

NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629

G

CD8 subunit alpha

mRNA:decreased expression:zone of skin (human)

NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040

G

cytotoxic T-lymphocyte-associated protein 4

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

forkhead box P3

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

interferon, alpha 1

treatment

RGD

NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925

G

interleukin 10

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 12B

treatment

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

RGD

PMID:16114559 PMID:23754510

RGD:7829774, RGD:40400714

NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

interleukin 2

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

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 21

protein:decreased expression:blood serum (human)

RGD

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 4

treatment

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

RGD

PMID:16114559 PMID:23754510

RGD:7829774, RGD:40400714

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

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

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

killer cell lectin like receptor K1

mRNA,protein:decreased expression:multiple (human)

RGD

NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459

G

mitogen-activated protein kinase 8

treatment

mRNA:increased expression:zone of skin (human)

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

MYD88, innate immune signal transduction adaptor

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

natural cytotoxicity triggering receptor 1

mRNA,protein:decreased expression:multiple (human)

RGD

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

programmed cell death 1

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

protein tyrosine phosphatase, non-receptor type 11

protein:increased expression:foreskin

RGD

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

protein tyrosine phosphatase, non-receptor type 6

protein:increased expression:foreskin

RGD

NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984

G

serpin family F member 1

disease_progression

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

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

transforming growth factor, beta 1

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 3

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 4

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 7

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754

G

toll-like receptor 8

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549

G

toll-like receptor 9

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

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

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 18

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353

bowenoid papulosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 2

mRNA:increased expression:perianal skin (human)

RGD

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

baculoviral IAP repeat-containing 3

mRNA:increased expression:perianal skin (human)

RGD

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

cervical adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine peptidase inhibitor, Kazal type 1

RGD

NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642

G

trefoil factor 1

mRNA, protein:increased expression:uterine cervix

RGD

NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597

G

transferrin receptor

protein:increased expression:uterine cervix

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

tumor protein p53

disease_progression

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

cervical cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenin

protein:increased expression:serum

RGD

NCBI chr15:24,312,711...24,323,361

G

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:polymorphism: :p.D148E (human)

RGD

PMID:19292061 PMID:18503157

RGD:2315657, RGD:2315662

NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785

G

apoptosis inhibitor 5

disease_progression

mRNA:increased expression

RGD

NCBI chr 3:80,378,096...80,403,259
Ensembl chr 3:80,378,096...80,403,264

G

Bcl2-like 1

protein:increased expression:uterine cervix

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

baculoviral IAP repeat-containing 2

mRNA:decreased expression:uterine cervix

RGD

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

BRCA1, DNA repair associated

disease_progression

DNA:hypermethylation:promoter

RGD

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Cervical cancer

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

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

basigin (Ok blood group)

disease_progression

RGD

NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387

G

caspase 3

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

cyclin B1

mRNA, protein:increased expression:uterine cervix

RGD

NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172

G

CD55 molecule (Cromer blood group)

RGD

NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831

G

cell division cycle 25A

RGD

NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701

G

cell division cycle 25C

RGD

NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185

G

cadherin 13

DNA:hypermethylation:promoter

RGD

NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459

G

cyclin-dependent kinase 1

RGD

NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408

G

estrogen receptor binding site associated antigen 9

disease_progression

protein:increased expression:uterine cervix

RGD

NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248

G

erb-b2 receptor tyrosine kinase 4

protein:increased expression: uterine cervix, cytoplasm

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

FA complementation group A

no_association

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

RGD

PMID:19012493 PMID:21543111

RGD:11344886, RGD:11344901

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

fibroblast growth factor receptor 3

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

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

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

glutathione S-transferase mu 1

susceptibility

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

heterogeneous nuclear ribonucleoprotein C

protein:increased expression:cervical epithelium (human)

RGD

NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183

G

homeo box B13

mRNA:increased expression:uterine cervix

RGD

NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777

G

heat shock protein family A (Hsp70) member 8

Protein: increased expression

RGD

NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259

G

interleukin 10

disease_progression

protein:increased expression:serum

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 beta

susceptibility

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

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

lysine demethylase 3A

severity

human gene in a mouse model

RGD

NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073

G

lysine methyltransferase 2A

human gene in a mouse model

RGD

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

lysine methyltransferase 2E

human gene in a mouse model

RGD

NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373

G

MET transcriptional regulator MACC1

mRNA:increased expression:cervical region (human)

RGD

NCBI chr 6:140,352,690...140,430,255
Ensembl chr 6:140,352,755...140,430,255

G

mitogen activated protein kinase kinase 3

treatment

RGD

NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492

G

mitogen-activated protein kinase kinase 6

RGD

NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293

G

mediator of DNA damage checkpoint 1

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

RGD

NCBI chr20:2,893,693...2,912,394
Ensembl chr20:2,895,505...2,910,240

G

mediator complex subunit 4

severity

mRNA:decreased expression:uterine cervix (human)

RGD

NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820

G

microRNA 152

miRNA:decreased expression:uterine cervix

RGD

NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020

G

microRNA 21

severity

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

matrix metallopeptidase 1

disease_progression

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

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 13

mRNA:increased expression:uterine cervix

RGD

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

methylenetetrahydrofolate reductase

susceptibility

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

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

NADH:ubiquinone oxidoreductase subunit S6

disease_progression

DNA, mRNA:amplification, increased expression:uterine cervix

NCBI chr 1:29,968,833...29,977,423
Ensembl chr 1:29,968,842...29,977,467

G

NADH:ubiquinone oxidoreductase subunit S6, pseudogene 1

disease_progression

DNA, mRNA:amplification, increased expression:uterine cervix

RGD

NCBI chr 2:27,201,706...27,202,241
Ensembl chr 2:27,201,713...27,202,258

G

NRAS proto-oncogene, GTPase

mRNA:increased expression:uterine cervix

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

phosphoglucomutase 3

RGD

NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022

G

parkin RBR E3 ubiquitin protein ligase

disease_progression

protein:decreased expression:uterine cervix (human)

RGD

NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555

G

protein tyrosine kinase 2

disease_progression

RGD

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

G

protein tyrosine phosphatase, non-receptor type 11

protein:increased expression:foreskin

RGD

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

protein tyrosine phosphatase, non-receptor type 6

protein:increased expression:foreskin

RGD

NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984

G

Ras association domain family member 1

associated with Papillomavirus Infections;DNA:hypermethylation:promoter

RGD

NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164

G

RT1 class II, locus Bb

susceptibility

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

RGD

PMID:25893807 PMID:16425277

RGD:36174015, RGD:36174023

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Hb, pseudogene 1

susceptibility

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

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

splicing factor 3B subunit 4

severity

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

RGD

PMID:35853859 PMID:35853859

RGD:155882439, RGD:155882439

NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959

G

SMAD family member 2

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

RGD

NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323

G

SMAD family member 4

mRNA:decreased expression:uterine cervix

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

SOS Ras/Rac guanine nucleotide exchange factor 1

mRNA:increased expression:cervix epithelium (human)

RGD

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

G

sperm associated antigen 5

severity

mRNA, protein:increased expression:cervix (human)

RGD

NCBI chr10:63,198,717...63,216,746
Ensembl chr10:63,198,768...63,216,745

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs: :

RGD

PMID:18248301 PMID:12648582

RGD:6482260, RGD:6482272

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNPs: :

RGD

PMID:18248301 PMID:12648582

RGD:6482260, RGD:6482272

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

G

TIMP metallopeptidase inhibitor 4

disease_progression

mRNA:increased expression:uterine cervix

RGD

NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558

G

tumor necrosis factor

susceptibility

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

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 10b

RGD

NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467

G

tumor protein p53

ClinVar Annotator: match by term: Cancer of cervix

PMID:1349102 PMID:1849234 PMID:9407971 PMID:12826609 PMID:15982667 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

susceptibility

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

RGD

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

X-ray repair cross complementing 1

DNA:polymorphism: :p.R194W

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

G

zinc finger homeobox 3

mRNA:increased expression:uterine cervix

RGD

NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771

cervical mucinous adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine/threonine kinase 11

disease_progression

DNA:mutations

RGD

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

cervical squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

disease_progression

protein:increased expression:cervix squamous epithelium (human)

RGD

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

G

BCL2 associated X, apoptosis regulator

protein:increased expression:uterine cervix

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

baculoviral IAP repeat-containing 2

disease_progression

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

RGD

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

BRCA1 interacting helicase 1

severity

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

RGD

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

C-C motif chemokine ligand 22

severity

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine receptor 4

severity

RGD

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

Cd82 molecule

protein:decreased expression:uterine cervix

RGD

NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809

G

colony stimulating factor 1 receptor

protein:increased expression:uterine cervix

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

fibroblast growth factor 7

cervical squamous cell carcinoma

RGD

NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929

G

fibroblast growth factor receptor 3

no_association

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

RGD

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

Fos proto-oncogene, AP-1 transcription factor subunit

disease_progression

protein:increased expression:uterine cervix

RGD

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:uterine cervix

RGD

NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930

G

forkhead box P3

severity

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

microRNA 21

RNA:increased expression:cervical cell

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 31

RNA:increased expression:blood serum (human)

RGD

NCBI chr 5:103,599,038...103,599,143

G

podoplanin

disease_progression

RGD

NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656

G

SMAD family member 3

severity

RGD

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

TIMP metallopeptidase inhibitor 2

protein:decreased expression:uterine cervix

RGD

NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611

G

transmembrane BAX inhibitor motif containing 6

disease_progression

mRNA:increased expression:uterine cervix

RGD

NCBI chr 7:130,527,313...130,542,567
Ensembl chr 7:130,527,316...130,543,633

G

TNF receptor superfamily member 4

severity

RGD

NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599

G

TNF superfamily member 4

severity

RGD

NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788

G

tumor protein p53

disease_progression

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

thymidine phosphorylase

disease_progression

RGD

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

cervix carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apurinic/apyrimidinic endodeoxyribonuclease 1

DNA:SNPs (human)

NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785

G

BAG cochaperone 1

protein:increased expression:uterine cervix

RGD

NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075

G

BCL2-antagonist/killer 1

DNA:missense mutations:exon:multiple (human)

RGD

NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264

G

cyclin D3

RGD

NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371

G

CD9 molecule

disease_progression

RGD

NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222

G

EGF containing fibulin extracellular matrix protein 2

exacerbates

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

RGD

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

endoplasmic reticulum aminopeptidase 1

DNA:SNPs (human)

RGD

NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447

G

fibroblast growth factor receptor 3

RGD

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

glutathione S-transferase mu 1

onset

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

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion:cds (human)

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H19 imprinted maternally expressed transcript

mRNA:decreased expression:uterine cervix

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

O-6-methylguanine-DNA methyltransferase

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

RGD

NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756

G

prostaglandin-endoperoxide synthase 1

disease_progression

RGD

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

protein tyrosine kinase 2

protein:increased tyrosine phosphorylation:cervix

RGD

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

G

secreted protein acidic and cysteine rich

DNA:hypermethylation

RGD

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:SNP: :(rs4148876)(human)

RGD

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

G

thymidine kinase 1

protein:increased expression:serum (human)

RGD

NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920

G

tumor susceptibility 101

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

RGD

PMID:10600297 PMID:10505033

RGD:2291851, RGD:2291852

NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554

cervix uteri carcinoma in situ

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 9

protein:increased expression:uterine cervix

RGD

NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917

G

BCL2, apoptosis regulator

disease_progression

protein:increased expression:uterine cervix

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

BRCA1, DNA repair associated

DNA:deletions:exon

RGD

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

cell adhesion molecule 1

severity

RGD

NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833

G

cyclin D1

protein:increased expression:uterine cervix

RGD

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin E1

protein:increased expression:uterine cervix

RGD

NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101

G

cyclin G1

protein:increased expression:uterine cervix

RGD

NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641

G

CD274 molecule

severity

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

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

CD46 molecule

protein:increased expression:uterine cervix

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

cadherin 1

DNA:hypermethylation:uterine cervix

RGD

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cyclin-dependent kinase 4

disease_progression

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

RGD

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 1A

protein:increased expression:epithelial cell:

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 1B

disease_progression

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

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

disease_progression

protein:increased expression:uterine cervix
DNA:hypermethylation

RGD

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

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

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

protein:increased expression
protein:increased expression:uterine cervix

RGD

PMID:17910346 PMID:17415114

RGD:2289675, RGD:2289676

G

cyclin-dependent kinase inhibitor 2B

protein:increased expression:uterine cervix

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

colony stimulating factor 1 receptor

disease_progression

protein:increased expression:uterine cervix

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

catenin alpha 1

disease_progression

protein:decreased expression:uterine cervix

RGD

NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910

G

discs large MAGUK scaffold protein 1

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

NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689

G

Fas ligand

associated with Papillomavirus Infections

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

histone deacetylase 1

protein:increased expression:uterine cervix

RGD

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

G

histone deacetylase 2

protein:increased expression:uterine cervix

RGD

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

histone deacetylase 6

protein:increased expression:uterine cervix

RGD

NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441

G

insulin-like growth factor binding protein 3

RGD

PMID:14675666 PMID:17709267

RGD:2290021, RGD:2290004

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

interleukin 1 beta

susceptibility

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

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

matrix Gla protein

RGD

NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667

G

microRNA 21

RNA:increased expression:cervical cell

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

mutL homolog 1

protein:increased expression:uterine cervix

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:uterine cervix

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

protein:increased expression:uterine cervix

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

programmed cell death 1

severity

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

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

prohibitin 1

protein:increased expression:uterine cervix

RGD

NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042

G

POU class 4 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728

G

phosphatase and tensin homolog

protein:decreased expression:uterine cervix

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein:increased expression:uterine cervix, epithelial cell

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RB transcriptional corepressor 1

associated with Adenocarcinoma

RGD

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

RELA proto-oncogene, NF-kB subunit

disease_progression

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

RGD

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

RT1 class II, locus Db1

associated with Papillomavirus Infections

RGD

PMID:18351579 PMID:10073700 PMID:15458897

RGD:2306230, RGD:2314703, RGD:2306232

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

S-phase kinase associated protein 2

severity

associated with Papillomavirus Infections

RGD

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

serine and arginine rich splicing factor 1

disease_progression

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

RGD

NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336

G

signal transducer and activator of transcription 3

disease_progression

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

RGD

PMID:16005944 PMID:17110342

RGD:2298536, RGD:2291916

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

telomerase RNA component

disease_progression

DNA:amplification:uterine cervix, epithelial cell

RGD

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

disease_progression

protein:increased expression:uterine cervix

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

thyroid hormone receptor beta

DNA:loss of heterozygosity (human)

RGD

NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916

G

toll-like receptor 9

disease_progression

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

DNA topoisomerase II alpha

RGD

NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p63

disease_progression

RGD

NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398

G

tumor protein p73

disease_progression

mRNA:increased expression:uterine cervix

RGD

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

vascular endothelial growth factor A

protein:increased expression:uterine cervix

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

X-linked inhibitor of apoptosis

protein:increased expression:uterine cervix

RGD

NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

choriocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

testicular germ cell neoplasms

RGD

NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359

G

insulin-like growth factor 2

disease_progression

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin receptor

disease_progression

RGD

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

TIMP metallopeptidase inhibitor 3

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

RGD

NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839

endometrial adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 1

protein:increased expression:endometrium epithelium

RGD

NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067

G

angiopoietin 2

protein:increased expression:endometrium epithelium

RGD

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

AT-rich interaction domain 1A

treatment

human cell in mouse model

RGD

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

axin 2

RGD

NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231

G

Bet1 golgi vesicular membrane trafficking protein-like

disease_progression

RGD

NCBI chr 1:195,931,407...195,935,072
Ensembl chr 1:195,931,411...195,935,040

G

CD55 molecule (Cromer blood group)

RGD

NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831

G

estrogen receptor binding site associated antigen 9

protein:increased expression:endometrium

RGD

NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248

G

forkhead box O3

severity

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

RGD

NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561

G

glutathione peroxidase 3

mRNA:decreased expression:endometrium (rat)

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

interferon regulatory factor 1

DNA:deletions (rat)

RGD

NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166

G

Jun proto-oncogene, AP-1 transcription factor subunit

no_association

RGD

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

KRAS proto-oncogene, GTPase

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

RGD

NCBI chr 4:178,185,418...178,218,484

G

mitogen activated protein kinase 1

treatment

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

RGD

PMID:23402905 PMID:14760076

RGD:13703125, RGD:13703137

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

treatment

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

RGD

PMID:23402905 PMID:14760076

RGD:13703125, RGD:13703137

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

programmed cell death 10

disease_progression

protein:increased expression:endometrium (human)

RGD

NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

RGD

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

phosphatase and tensin homolog

ameliorates

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin E synthase

protein:increased expression:endometrium

RGD

NCBI chr 3:14,177,892...14,189,236

G

ribonucleotide reductase regulatory subunit M2

DNA:amplification (rat)

RGD

NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773

G

transforming growth factor beta receptor 3

mRNA:decreased expression:endometrium

RGD

NCBI chr14:2,489,397...2,665,383
Ensembl chr14:2,489,397...2,663,341

G

tumor protein p53

disease_progression

DNA:missense mutations
protein:increased expression:endometrium

PMID:1540970 PMID:1540970

RGD:2290541, RGD:2290541

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor susceptibility 101

mRNA:alternative forms

RGD

NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554

endometrial cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 3

susceptibility

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

RGD

NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552

G

alpha-fetoprotein

severity

protein:increased expression:serum

RGD

NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480

G

AKT serine/threonine kinase 2

severity

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

RGD

NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817

G

angiogenin

protein:increased expression:serum

RGD

NCBI chr15:24,312,711...24,323,361

G

APC regulator of WNT signaling pathway

severity
treatment

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

RGD

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

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

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

apurinic/apyrimidinic endodeoxyribonuclease 1

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

RGD

NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785

G

androgen receptor

RGD

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

AT-rich interaction domain 1A

onset

protein:decreased expression:endometrium (human)

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

ATM serine/threonine kinase

susceptibility

RGD

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

BCL2-associated agonist of cell death

disease progression

protein:altered expression:endometrium (human)

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

BAG cochaperone 1

protein:increased expression:endometrium

RGD

NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075

G

Bcl2-like 1

protein:increased expression:endometrium

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

BRCA2, DNA repair associated

DNA:deletion, frameshift mutation

RGD

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

bone marrow stromal cell antigen 2

treatment

protein:increased expression:endometrium:

RGD

PMID:26498112 PMID:22729361 PMID:22729361

RGD:14398492, RGD:14398498, RGD:14398498

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

G

CD59b molecule

protein:increased expression:endometrium

RGD

NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847

G

CD9 molecule

RGD

NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222

G

cell division cycle 25B

RGD

NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272

G

cell division cycle 25C

DNA:mutation (human)

RGD

NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185

G

cadherin 1

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cyclin-dependent kinase inhibitor 2A

DNA:deletions:exon (rat)

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2B

DNA:deletion (rat)

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

catechol-O-methyltransferase

susceptibility
no_association

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

RGD

PMID:12810635 PMID:17442187 PMID:15285606

RGD:2289723, RGD:2289714, RGD:2289721

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

cytochrome P450, family 19, subfamily a, polypeptide 1

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

RGD

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

cytochrome P450, family 1, subfamily a, polypeptide 1

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 1, subfamily a, polypeptide 2

RGD

NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312

G

dihydrofolate reductase

ClinVar Annotator: match by term: MSH3-related condition

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

NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
ameliorates

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

RGD

PMID:28177909 PMID:28177909

RGD:42722012, RGD:42722012

NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414

G

epidermal growth factor

severity

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

RGD

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

ERBB receptor feedback inhibitor 1

OMIM:608089

NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282

G

fibroblast growth factor 1

disease_progression

mRNA:increased expression:myometrium

RGD

NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357

G

fibroblast growth factor 2

disease_progression

mRNA, protein:increased expression:myometrium

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

growth hormone releasing hormone

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

RGD

PMID:10022420 PMID:15784701

RGD:2289974, RGD:2301423

NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889

G

homeo box B13

RGD

NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777

G

HtrA serine peptidase 2

protein:decreased expression:endometrium (human)

RGD

NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095

G

interleukin 10

protein:increased expression:serum

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

Janus kinase 1

severity

DNA:frameshift mutations

RGD

NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926

G

junction plakoglobin

protein:decreased expression:endometrium

RGD

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

lymphotoxin alpha

susceptibility

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

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

microcephalin 1

DNA:deletions:exons:multiple (human)

RGD

NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122

G

microRNA 21

miRNA:increased expression:endometrium

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial cancer

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

NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728

G

matrix metallopeptidase 7

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902

G

MRE11 homolog, double strand break repair nuclease

DNA:deletions:intron:IVS4_delT (human)

RGD

NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279

G

mutS homolog 3

ClinVar Annotator: match by term: MSH3-related condition

PMID:2635641 PMID:8782829 PMID:11470537 PMID:20981092 PMID:21153778 More...

NCBI chr 2:23,444,326...23,585,777

G

mutS homolog 6

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial cancer, somatic

PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 PMID:15635083 More...

NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146

G

notch receptor 1

mRNA:increased expression:endometrium

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

notch receptor 4

mRNA:decreased expression:endometrium

RGD

NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465

G

phosphoglucomutase 1

RGD

NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728

G

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

onset

mRNA:increased expression:endometrium (human)

RGD

NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663

G

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

RGD

NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

RGD

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

DNA polymerase epsilon, catalytic subunit

onset
disease_progression
ameliorates

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

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

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

NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

G

phosphatase and tensin homolog

OMIM:608089

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

RAD21 cohesin complex component

onset

DNA:CNV: (human)

RGD

NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817

G

ring finger protein 43

DNA:mutations:multiple: (human)

RGD

NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977

G

RUNX family transcription factor 1

mRNA:decreased expression:endometrium

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

sex hormone binding globulin

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

RGD

NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057

G

SMAD family member 2

protein:increased expression:endometrium

RGD

NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323

G

SMAD family member 3

protein:increased expression:endometrium

RGD

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

SMAD family member 7

disease_progression

mRNA:increased expression:endometrium

RGD

NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765

G

suppressor of cytokine signaling 2

DNA:hypermethylated

RGD

NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548

G

sperm associated antigen 9

protein:increased expression:serum:

RGD

NCBI chr10:78,943,439...79,077,797
Ensembl chr10:78,943,479...79,077,797

G

serine/threonine kinase 11

OMIM:608089

PMID:18245476 PMID:18245476

RGD:2291944, RGD:2291944

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

sulfotransferase family 1A member 1

RGD

NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562

G

sulfotransferase family 1E member 1

RGD

NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275

G

trefoil factor 1

mRNA, protein:increased expression:endometrium

RGD

NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597

G

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:endometrium

RGD

NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558

G

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

protein:increased expression:serum (human)

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

tumor protein p53

OMIM:608089

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

thymidine phosphorylase

RGD

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

G

UDP glucuronosyltransferase family 1 member A1

DNA:SNP: :rs2070959 (human)

RGD

NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465

G

WT1 transcription factor

disease_progression

RGD

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

endometrial carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

APC regulator of WNT signaling pathway

onset

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

PMID:25741868 PMID:28492532 PMID:32885271 PMID:19900189 PMID:21363919

RGD:13524625, RGD:13525011

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

apoptosis resistant E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 6:104,560,556...104,617,712
Ensembl chr 6:104,564,986...104,617,628

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

aurora kinase A

mRNA, protein:increased expression:endometrium

RGD

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

aurora kinase B

disease_progression

mRNA, protein:increased expression:endometrium

RGD

NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265

G

B-Raf proto-oncogene, serine/threonine kinase

DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Endometrial carcinoma

PMID:28492532 PMID:16144912

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

BRICHOS domain containing 5

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259

G

basigin (Ok blood group)

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25741868 More...

NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

CASK interacting protein 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377

G

cyclin B1

RGD

NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172

G

Cd82 molecule

disease_progression

RGD

NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809

G

cadherin 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cadherin 13

disease_progression

DNA:hypomethylation

RGD

NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459

G

checkpoint kinase 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

dihydrofolate reductase

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713

G

deoxyribonuclease 1 like 2

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763

G

E4F transcription factor 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974

G

enoyl-CoA delta isomerase 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

endoplasmic reticulum aminopeptidase 1

disease_progression

RGD

NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447

G

fibroblast growth factor 7

mRNA:decreased expression:endometrium

RGD

NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

growth factor receptor bound protein 2

severity

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

RGD

NCBI chr10:100,881,404...100,949,193
Ensembl chr10:100,869,718...100,949,309

G

glycogen synthase kinase 3 beta

severity

protein:increased expression:endometrium (human)

RGD

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

H19 imprinted maternally expressed transcript

severity

mRNA:increased expression:endometrium

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

histone deacetylase 3

disease_progression

RGD

NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856

G

HRas proto-oncogene, GTPase

disease_progression

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

RGD

PMID:9641239 PMID:8960147

RGD:13441555, RGD:13781876

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

Jun proto-oncogene, AP-1 transcription factor subunit

disease_progression

RGD

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

KiSS-1 metastasis-suppressor

disease_progression

mRNA:decreased expression:endometrium

RGD

NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16051643 More...

NCBI chr 4:178,185,418...178,218,484

G

mitogen activated protein kinase 1

severity

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

RGD

PMID:29081408 PMID:22459351

RGD:13702082, RGD:13441552

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

severity

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

RGD

PMID:29081408 PMID:22459351

RGD:13702082, RGD:13441552

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

microRNA 152

DNA:hypermethylation

RGD

NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020

G

mutL homolog 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728

G

MTOR associated protein, LST8 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128

G

matrix metallopeptidase 8

RGD

NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520

G

matrix metallopeptidase 9

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mutS homolog 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

mutS homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 2:23,444,326...23,585,777

G

mutS homolog 6

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:11818965 PMID:12606733 PMID:16140997 PMID:16338133 PMID:16492921 More...

NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146

G

nuclear receptor coactivator 1

mRNA:increased expression:endometrium

RGD

NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664

G

nuclear receptor co-repressor 2

mRNA:increased expression:endometrium

RGD

NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319

G

nitric oxide synthase 3

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

phosphoglycolate phosphatase

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858

G

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

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

RGD

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128

G

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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma
DNA:mutations:multiple (human)

PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532 PMID:23528559

NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

G

protein kinase C, alpha

RGD

NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 1

disease_progression

RGD

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

protein tyrosine kinase 2

severity

protein:increased expression:endometrium

RGD

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

G

RAB26, member RAS oncogene family

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030

G

RAD51 paralog C

ClinVar Annotator: match by term: Endometrial carcinoma

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

NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248

G

Ras association domain family member 1

DNA, protein:hypermethylation, decreased expression:promoter,

RGD

NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164

G

RNA binding protein with serine rich domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

RGD

NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156

G

stratifin

RGD

NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314

G

SMAD family member 4

severity

DNA:substitutions:promoter
mRNA:decreased expression:endometrium

RGD

PMID:10331746 PMID:15385128

RGD:2300009, RGD:2299966

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

small nucleolar RNA, C/D box 60

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,552,773...13,552,855
Ensembl chr10:13,552,773...13,552,855

G

secreted protein acidic and cysteine rich

DNA, mRNA, protein:hypermethylation, altered expression

RGD

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

transforming, acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr14:77,051,209...77,065,343
Ensembl chr14:77,051,215...77,065,219

G

trefoil factor 1

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597

G

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

TIMP metallopeptidase inhibitor 2

disease_progression

mRNA:decreased expression:endometrium

RGD

NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611

G

TIMP metallopeptidase inhibitor 4

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558

G

tumor protein p53

severity

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

PMID:25741868 PMID:28492532 PMID:18431720 PMID:26353976

RGD:2298525, RGD:11075084

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

TNF receptor associated factor 7

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203

G

TSC complex subunit 2

ClinVar Annotator: match by term: Endometrial carcinoma

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

G

Wnt family member 2

mRNA:decreased expression:endometrium

RGD

NCBI chr 4:46,328,408...46,374,673
Ensembl chr 4:46,333,998...46,374,402

G

Wnt family member 3

RGD

NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099

G

Wnt family member 4

RGD

NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859

G

Wnt family member 5A

RGD

NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234

endometrial hyperplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

protein:increased expression:endometrium

RGD

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

RGD

NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838

G

cell division cycle 25B

protein:increased expression:endometrium

RGD

NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272

G

cell division cycle 25C

RGD

NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185

G

cyclin-dependent kinase inhibitor 1C

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048

G

cadherin, EGF LAG seven-pass G-type receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845

G

cysteine and glycine-rich protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:47,158,171...47,179,388
Ensembl chr13:47,167,789...47,179,384

G

DEAD-box helicase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365

G

H19 imprinted maternally expressed transcript

mRNA:altered localization:endometrium

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

junction plakoglobin

protein:decreased expression:endometrium

RGD

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

KRAS proto-oncogene, GTPase

RGD

NCBI chr 4:178,185,418...178,218,484

G

matrix metallopeptidase 7

protein:increased expression:endometrium

RGD

NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

protein tyrosine kinase 2

protein:increased expression:endometrium

RGD

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

G

S-phase kinase associated protein 2

associated with Endometrial Neoplasms;protein:increased expression:endometrium

RGD

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

trefoil factor 1

protein:increased expression:endometrium

RGD

NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597

Endometrial Hyperplasia without Atypia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial hyperplasia without atypia

PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More...

NCBI chr 4:178,185,418...178,218,484

Endometrial Intraepithelial Neoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

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

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

cyclin-dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 More...

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

catenin beta 1

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

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

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More...

NCBI chr 4:178,185,418...178,218,484

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

tumor protein p53

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

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

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

Endometrial Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356

G

aldo-keto reductase family 1 member B1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157

G

aldo-keto reductase family 1 member B10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,038,459...63,060,336
Ensembl chr 4:63,040,169...63,053,852

G

aldo-keto reductase family 1, member C1

CTD Direct Evidence: marker/mechanism

NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326

G

aldo-keto reductase family 1, member C3

CTD Direct Evidence: marker/mechanism

NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873

G

anti-Mullerian hormone receptor type 2

protein:increased expression:endometrium

RGD

NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258

G

APC regulator of WNT signaling pathway

RGD

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

ATR serine/threonine kinase

ClinVar Annotator: match by term: Endometrial neoplasm

PMID:19470935 PMID:21228398 PMID:23144622 PMID:28492532

NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136

G

BCL2, apoptosis regulator

severity

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

baculoviral IAP repeat-containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

calbindin 2

protein:decreased expression:endometrium

RGD

NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cyclin D1

protein:increased expression:endometrium
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29232554 PMID:18306533

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

CD44 molecule

disease_progression

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

RGD

PMID:14658589 PMID:16308159

RGD:2296044, RGD:2289358

NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

CD46 molecule

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cyclin dependent kinase 2

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403

G

cyclin-dependent kinase 4

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 1A

susceptibility

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

RGD

PMID:15099969 PMID:16837908

RGD:2296047, RGD:2289683

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 1B

protein:decreased expression:endometrium

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 1C

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048

G

cyclin-dependent kinase inhibitor 2A

severity

protein:increased expression:endometrium

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

severity

protein:increased expression:endometrium

RGD

G

cyclin-dependent kinase inhibitor 2B

DNA:SNPs: :rs615552, rs573687 (human)

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

chromodomain helicase DNA binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541

G

checkpoint with forkhead and ring finger domains

CTD Direct Evidence: marker/mechanism

NCBI chr12:46,504,497...46,538,104
Ensembl chr12:46,504,497...46,538,014

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

PMID:29805589 PMID:32751388

NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099

G

cannabinoid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548

G

catenin alpha 1

disease_progression

RGD

NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910

G

catenin beta 1

disease_progression

ClinVar Annotator: match by term: Endometrial neoplasm
protein:increased expression:nucleus

PMID:9065402 PMID:9294210 PMID:10192393 PMID:25157968 PMID:25741868 More...

RGD:2298485, RGD:2289828, RGD:4143515

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

cytochrome P450, family 11, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

decorin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270

G

DNA methyltransferase 1

mRNA,protein:decreased expression:uterus:

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 beta

mRNA,protein:decreased expression:uterus:

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

epidermal growth factor

severity

protein:increased expression:plasma (human)

RGD

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erb-b2 receptor tyrosine kinase 2

severity
disease_progression

DNA:amplification

RGD

PMID:17945336 PMID:19078924 PMID:18202752

RGD:2298491, RGD:4143515, RGD:2298490

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

protein:increased expression:endometrium

RGD

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

protein:increased expression:endometrium

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

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

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor receptor 2

susceptibility

DNA:SNP
ClinVar Annotator: match by term: Endometrial neoplasm
CTD Direct Evidence: marker/mechanism
DNA:mutations

ClinVar
CTD
RGD

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

RGD:2301188, RGD:2301189

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fragile histidine triad diadenosine triphosphatase

RGD

NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340

G

Fms related receptor tyrosine kinase 1

severity
disease_progression

mRNA, protein:increased expression:endometrium

RGD

PMID:12485477 PMID:10831352

RGD:2301252, RGD:2301256

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

glycogen synthase kinase 3 beta

treatment

human cells in a mouse xenograft model

RGD

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

H19 imprinted maternally expressed transcript

severity

mRNA:increased expression:endometrium

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

histone deacetylase 1

disease_progression

RGD

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

G

histone deacetylase 2

disease_progression

RGD

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

homeobox A10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:81,331,591...81,340,878
Ensembl chr 4:81,331,591...81,340,919

G

homeobox A11

CTD Direct Evidence: marker/mechanism

NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232

G

hydroxysteroid (17-beta) dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:45,753,576...45,825,203
Ensembl chr19:45,753,574...45,825,202

G

insulin-like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

inhibin subunit alpha

mRNA:decreased expression:endometrium

RGD

NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248

G

jagged canonical Notch ligand 1

RGD

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

JAZF zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:81,879,501...82,183,237
Ensembl chr 4:81,881,061...82,183,100

G

kinase insert domain receptor

disease_progression

mRNA:increased expression:endometrium

RGD

PMID:12485477 PMID:11745191

RGD:2301252, RGD:2301760

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KRAS proto-oncogene, GTPase

RGD

PMID:19960433 PMID:19078924

RGD:2314907, RGD:4143515

NCBI chr 4:178,185,418...178,218,484

G

LIM and SH3 protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:82,795,177...82,835,659
Ensembl chr10:82,795,137...82,943,292

G

leucyl and cystinyl aminopeptidase

RGD

NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544

G

mitogen activated protein kinase kinase kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358

G

mitogen activated protein kinase 3

treatment

RGD

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

MET proto-oncogene, receptor tyrosine kinase

DNA:amplification

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

microRNA 200c

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,523,679...157,523,747

G

mutL homolog 1

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

mutL homolog 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

DNA, protein:mutation, decreased expression:endometrium

RGD

PMID:17925543 PMID:11920468

RGD:2298951, RGD:2293523

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

mutS homolog 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:23,444,326...23,585,777

G

mutS homolog 6

CTD Direct Evidence: marker/mechanism

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

non-SMC condensin I complex, subunit G

CTD Direct Evidence: marker/mechanism

NCBI chr14:65,403,930...65,432,902
Ensembl chr14:65,404,163...65,432,902

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nuclear receptor interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761

G

8-oxoguanine DNA glycosylase

no_association

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

RGD

PMID:22271435 PMID:22544315

RGD:8657377, RGD:8657379

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

pro-apoptotic WT1 regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028

G

progesterone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344

G

prohibitin 1

protein:increased expression:endometrium

RGD

NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042

G

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

RGD

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

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

mRNA:increased expression:endometrium (human)

RGD

NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663

G

plexin A3

CTD Direct Evidence: marker/mechanism

NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603

G

DNA polymerase delta 1, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465

G

phosphatase and tensin homolog

severity

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

CTD
RGD

PMID:9326929 PMID:12888921 PMID:16402032 PMID:16804899 PMID:19078924 More...

RGD:4143515, RGD:12832753, RGD:12832746, RGD:2292506

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 2

disease_progression

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RB transcriptional corepressor 1

RGD

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

ring finger protein 144B

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,431,271...17,580,687
Ensembl chr17:17,432,786...17,562,760

G

ring finger protein 43

CTD Direct Evidence: marker/mechanism

NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977

G

semaphorin 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919

G

semaphorin 3F

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083

G

SIX homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975

G

S-phase kinase associated protein 2

RGD

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

suppressor of cytokine signaling 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787

G

serine peptidase inhibitor, Kazal type 1

RGD

NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642

G

speckle type BTB/POZ protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955

G

steroid 5 alpha-reductase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112

G

serine and arginine rich splicing factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768

G

ST14 transmembrane serine protease matriptase

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

steroidogenic acute regulatory protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:endometrium

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

sulfotransferase family 1A member 1

no_association

RGD

PMID:18497059 PMID:18318428

RGD:2301045, RGD:2301040

NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562

G

sulfotransferase family 2B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295

G

SUZ12 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738

G

telomerase reverse transcriptase

mRNA:increased expression:endometrium

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

TIMP metallopeptidase inhibitor 3

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839

G

TNF superfamily member 10

CTD Direct Evidence: therapeutic

NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:7955072 PMID:19078924

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

susceptibility

DNA:hypermethylation
DNA:polymorphism:exon

RGD

PMID:16928264 PMID:15723718

RGD:2290585, RGD:2298528

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

transient receptor potential cation channel, subfamily V, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513

G

transient receptor potential cation channel, subfamily V, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:47,265,524...47,294,263
Ensembl chr10:47,272,931...47,294,260

G

TSPY-like 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:21,439,478...21,445,208
Ensembl chr X:21,439,478...21,445,089

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

zinc finger E-box binding homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214

endometrial serous adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Endometrial serous adenocarcinoma

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

BRCA2, DNA repair associated

susceptibility

DNA:deletion: :6174delT

RGD

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

endometrial stromal sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene receptor tyrosine kinase

RGD

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

Endometrioid Carcinomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

APC regulator of WNT signaling pathway

DNA:hypermethylation: (human)

RGD

NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696

G

amphiregulin

mRNA, protein:increased expression:endometrium

RGD

NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535

G

ATPase copper transporting beta

disease_progression

protein:increased expression:endometrium

RGD

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

G

baculoviral IAP repeat-containing 5

protein:increased expression:endometrium

RGD

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

bone morphogenetic protein 4

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

RGD

NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838

G

cyclin E1

protein:increased expression:endometrium

RGD

NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101

G

cadherin 1

protein:decreased expression:endometrium

RGD

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cyclin dependent kinase 2

severity

RGD

NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403

G

cyclin-dependent kinase inhibitor 1B

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

checkpoint kinase 2

susceptibility

RGD

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

catenin beta 1

DNA:mutations

RGD

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

death-domain associated protein

protein:increased expression:ovary:

RGD

NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843

G

DNA methyltransferase 1

mRNA,protein:increased expression:uterus:

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 beta

mRNA,protein:increased expression:uterus:

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

epidermal growth factor receptor

mRNA:decreased expression:endometrium
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

PMID:22885469 PMID:16962163

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

enolase 2

RGD

NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980

G

erb-b2 receptor tyrosine kinase 2

RGD

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

RGD

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

estrogen receptor 1

severity

protein:increased phosphorylation

RGD

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More...

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

insulin-like growth factor binding protein 3

disease_progression

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

inhibin subunit alpha

RGD

NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248

G

inhibin subunit beta A

protein:decreased expression:endometrium

RGD

NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982

G

kinase insert domain receptor

severity

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KRAS proto-oncogene, GTPase

associated with Ovarian Neoplasms

RGD

NCBI chr 4:178,185,418...178,218,484

G

leucyl and cystinyl aminopeptidase

associated with Endometrial Neoplasms

RGD

NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544

G

mitogen activated protein kinase 1

treatment

RGD

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

treatment

RGD

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

mesothelin

CTD Direct Evidence: marker/mechanism

NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643

G

NK2 homeobox 1

DNA:hypermethylation

RGD

NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791

G

platelet derived growth factor receptor alpha

protein:decreased expression:ovary

RGD

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

platelet derived growth factor receptor beta

protein:increased expression:ovary

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

PMID:21984976 PMID:25741868

NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065

G

DNA polymerase epsilon, catalytic subunit

ameliorates

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

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

NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

G

phosphatase and tensin homolog

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

RGD

PMID:17418409 PMID:11156411

RGD:2289817, RGD:12802357

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

ST14 transmembrane serine protease matriptase

associated with Ovarian Neoplasms;protein:increased expression:ovary

RGD

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

Wnt inhibitory factor 1

mRNA:increased expression:ovary

RGD

NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360

epidermodysplasia verruciformis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis

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

NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960

G

transmembrane channel-like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

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

NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590

G

trinucleotide repeat containing adaptor 6C

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194

Epidermodysplasia Verruciformis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

susceptibility

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

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

NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960

G

transmembrane channel-like 8

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

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

NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590

Epidermodysplasia Verruciformis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2

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

NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960

G

transmembrane channel-like 8

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2

PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 More...

NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590

Epidermodysplasia Verruciformis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium and integrin binding 1

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3

PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 More...

NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423

Epidermodysplasia Verruciformis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member H

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4

PMID:22850876 PMID:25741868 PMID:28492532

NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369

Epidermodysplasia Verruciformis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 7

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5

NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891

Hereditary Leiomyomatosis and Renal Cell Cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CHM like Rab escort protein

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862

G

cholinergic receptor, muscarinic 3

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278

G

exonuclease 1

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654

G

fumarate hydratase

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More...

NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266

G

formin 2

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411

G

gremlin 2, DAN family BMP antagonist

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:86,778,543...86,871,509
Ensembl chr13:86,778,500...86,871,615

G

kynurenine 3-monooxygenase

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881

G

opsin 3

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:87,589,333...87,619,847
Ensembl chr13:87,589,333...87,619,847

G

phospholipase D family, member 5

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868

G

regulator of G-protein signaling 7

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888

G

ryanodine receptor 2

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

WD repeat domain 64

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327

G

zona pellucida glycoprotein 4

ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer

NCBI chr17:59,005,649...59,012,202
Ensembl chr17:59,005,649...59,012,202

Hydatidiform Mole

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein hormones, alpha polypeptide

protein:increased expression:serum

RGD

NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

RGD

NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079

G

KH domain containing 3, subcortical maternal complex member

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole

NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248

G

mutL homolog 1

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

RGD

NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843

Hydatidiform Mole, Invasive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 2

protein:decreased expression:mononuclear cytotrophoblast cell

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

Hydatidiform Mole, Recurrent, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1

PMID:19066229 PMID:21507883 PMID:24105752

NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1

PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More...

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

Hydatidiform Mole, Recurrent, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KH domain containing 3, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2

PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More...

NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248

Hydatidiform Mole, Recurrent, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

meiotic double-stranded break formation protein 1

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3

PMID:25741868 PMID:30388401

NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511

Hydatidiform Mole, Recurrent, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4

PMID:25741868 PMID:30388401

NCBI chr 1:201,902,564...201,989,945

papillomavirus infectious disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

exacerbates

associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human)

RGD

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

cyclin A1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157

G

cyclin G1

disease_progression

associated with cervix carcinoma; protein:increased expression:cervix (human)

RGD

NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641

G

CD274 molecule

associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

cyclin-dependent kinase inhibitor 2A

associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix
associated with Cervix Neoplasms;protein:increased expression:uterine cervix

RGD

PMID:16415792 PMID:16406113

RGD:2296057, RGD:2296058

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

epidermal growth factor receptor

disease_progression

associated with squamous cell carcinoma

RGD

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

fibroblast growth factor receptor 3

associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human)

RGD

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

forkhead box P3

susceptibility

DNA:SNP::rs3761548(human)

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

glutathione S-transferase mu 1

DNA:deletion

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

interleukin 1 receptor-like 1

RGD

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

microRNA 20a

associated with oral squamous cell carcinoma

RGD

NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168

G

microRNA 21

RNA:increased expression:cervical cell

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

methylenetetrahydrofolate reductase

no_association

DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

MX dynamin like GTPase 1

exacerbates

protein:increased expression:body wart (human)

RGD

NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507

G

phosphatase and tensin homolog

associated with tonsil cancer;protein:increased expression:tonsil (human)
associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)

PMID:24616007 PMID:28945300

RGD:127285601 RGD:127285613

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

RT1 class II, locus Db1

susceptibility

RGD

PMID:12918070 PMID:12941545 PMID:19272325

RGD:2314694, RGD:2314693, RGD:2306228

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

susceptibility

associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human)

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

toll-like receptor 3

resistance

mRNA:increased expression:cervix epithelium (human)

RGD

NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 9

resistance

mRNA:increased expression:cervix epithelium (human)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

vesicle-associated membrane protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr12:16,728,486...16,764,261
Ensembl chr12:16,728,524...16,764,097

placental site trophoblastic tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glypican 3

protein:increased expression:placenta, trophoblast cells (human)

RGD

NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798

Recurrent Respiratory Papillomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD274 molecule

protein:increased expression: larynx

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

forkhead box P3

susceptibility

DNA:SNPs:promoter:rs5902434,rs2232365 (human)

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

NLR family, pyrin domain containing 1A

ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital

PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767

NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180

G

programmed cell death 1

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

RT1 class II, locus Bb

severity

DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human)
DNA:polymorphism: :HLA-DQB1*0602(human)

RGD

PMID:15336778 PMID:19861144

RGD:5147657, RGD:36174013

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

severity

DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

transporter 1, ATP binding cassette subfamily B member

severity

DNA:polymorphism:cds:p.D637G(human)

RGD

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

Rhabdomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

TSC complex subunit 2

ClinVar Annotator: match by term: Rhabdomyoma

PMID:10205261 PMID:17304050 PMID:25741868 PMID:28492532 PMID:32211034 More...

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

skin papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

RGD

NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629

G

clusterin

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

RGD

NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866

G

microRNA 21

ameliorates

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

neuregulin 1

DNA:hypermethylation:

NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884

G

toll-like receptor 2

protein:increased expression,altered expression:cytoplasm,membrane, nucleus:

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

subserous uterine fibroid

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

RGD

NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790

uterine cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aurora kinase A

susceptibility

DNA:SNP:cds:p.F31I

RGD

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:12068308 PMID:12198537 PMID:12960123 PMID:14679157 PMID:15035987 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

catenin beta 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More...

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

estrogen receptor binding site associated antigen 9

protein:increased expression:serum

RGD

NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:16397024 PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 More...

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25741868 PMID:26619011

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More...

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

H19 imprinted maternally expressed transcript

disease_progression

mRNA:increased expression:myometrium

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

kallikrein related-peptidase 10

mRNA, protein:increased expression:endometrium, serum

RGD

NCBI chr 1:94,234,536...94,239,369
Ensembl chr 1:94,235,096...94,239,376

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr 4:178,185,418...178,218,484

G

L1 cell adhesion molecule

severity

protein:increased expression:uterus, serum (human)

RGD

NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857

G

LETM1 domain containing 1

mRNA:increased expression:uterine cervix

RGD

NCBI chr 7:131,584,241...131,597,797
Ensembl chr 7:131,584,259...131,597,796

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

mitogen activated protein kinase kinase 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 More...

NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More...

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

G

NFE2 like bZIP transcription factor 2

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

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

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25157968 PMID:25741868 PMID:26619011

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

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

NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

G

protein phosphatase 2 scaffold subunit A alpha

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More...

NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

Rac family small GTPase 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25056119 PMID:26619011

NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251

G

Ras homolog, mTORC1 binding

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:25741868 PMID:26619011

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

G

speckle type BTB/POZ protein

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955

G

tumor protein p53

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:124622 PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

G

exportin 1

ClinVar Annotator: match by term: Malignant neoplasm of body of uterus

NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498

uterine carcinosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 2A

disease_progression

RGD

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

ClinVar Annotator: match by term: Uterine carcinosarcoma

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:25741868 PMID:26619011

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More...

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

KIT proto-oncogene receptor tyrosine kinase

Uterine Carcinosarcoma

RGD

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

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

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:19962457 PMID:25157968 PMID:26619011

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Uterine carcinosarcoma

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

NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

G

protein phosphatase 2 scaffold subunit A alpha

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More...

NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129

G

prominin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

tumor protein p53

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Uterine carcinosarcoma

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

Uterine Cervical Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 9

protein:increased expression:uterine cervix

RGD

NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

baculoviral IAP repeat-containing 5

disease_progression

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:uterine cervix
protein:increased expression:uterine cervix

CTD
RGD

PMID:26432044 PMID:17364499 PMID:17877643 PMID:17890889

RGD:2293101, RGD:2293098, RGD:2293097

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

cell adhesion molecule 1

severity

DNA, mRNA:hypermethylation, decreased expression:cervix

RGD

PMID:15589594 PMID:17009984

RGD:2289090, RGD:2289089

NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833

G

carbonic anhydrase 9

treatment

RGD

PMID:17308115 PMID:12687273

RGD:2293193, RGD:2293200

NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

cyclin D1

onset

DNA:polymorphism: :870A>G
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:26432044 PMID:18355450

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin E1

disease_progression

protein:increased expression:cervix, epithelial cell

RGD

PMID:17308103 PMID:16538218

RGD:2289265, RGD:2289268

NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101

G

cyclin G1

protein:increased expression:uterine cervix

RGD

NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641

G

CD44 molecule

disease_progression

mRNA:splice variants:uterine cervix
protein:decreased expression:uterine cervix

RGD

PMID:17464868 PMID:16998464

RGD:2289350, RGD:2289353

NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

CD46 molecule

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

cadherin 1

DNA:hypermethylation:uterine cervix

RGD

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cyclin dependent kinase 2

mRNA:decreased expression:uterine cervix

RGD

NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403

G

cyclin-dependent kinase 4

disease_progression

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

RGD

PMID:18301453 PMID:11311493

RGD:2293574, RGD:2299057

NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403

G

cyclin-dependent kinase inhibitor 1A

protein:decreased expression:uterine cervix

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 1B

disease_progression

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

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cyclin-dependent kinase inhibitor 2A

disease_progression

protein:increased expression:uterine cervix

RGD

PMID:17415114 PMID:16415792 PMID:17369842

RGD:2289676, RGD:2296057, RGD:2289678

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

protein:increased expression:uterine cervix

RGD

PMID:17415114 PMID:17369842

RGD:2289676, RGD:2289678

G

cyclin-dependent kinase inhibitor 2B

protein:increased expression:uterine cervix

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

checkpoint kinase 2

RGD

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

CLPTM1-like

CTD Direct Evidence: marker/mechanism

NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530

G

CREB binding protein

ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More...

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

catenin alpha 1

protein:decreased expression:uterine cervix

RGD

NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910

G

catenin beta 1

protein:altered localization:cytoplasm
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9065403 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 More...

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

CYLD lysine 63 deubiquitinase

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658

G

DNA methyltransferase 1

protein:increased expression (in humans)

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 beta

susceptibility

DNA:SNP: :46359C>T(human)
mRNA:increased expression:uterine cervix:

RGD

PMID:23677709 PMID:22330137

RGD:9589114, RGD:9589117

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

epidermal growth factor receptor

disease_progression

protein:increased expression:uterine cervix
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18703609 PMID:20859196 PMID:21329967 PMID:17465227

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

E1A binding protein p300

ClinVar Annotator: match by term: Neoplasm of uterine cervix

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erb-b2 receptor tyrosine kinase 2

disease_progression

protein:increased expression:uterine cervix
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:16397024 PMID:22908275 PMID:23220880 PMID:25157968 PMID:26619011 More...

RGD:2289947, RGD:2298504

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

disease_progression

protein:increased expression:uterine cervix
ClinVar Annotator: match by term: Neoplasm of uterine cervix

PMID:26619011 PMID:17465227

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

protein:increased expression:uterine cervix

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

ERCC excision repair 1, endonuclease non-catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

FA complementation group F

DNA:hypermethylation:promoter

RGD

NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923

G

Fas ligand

associated with Papillomavirus Infections

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Neoplasm of uterine cervix

PMID:25741868 PMID:26619011

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor receptor 2

cervical squamous cell carcinoma

RGD

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

fragile histidine triad diadenosine triphosphatase

no_association

associated with smoking
cervical squamous cell carcinoma

RGD

PMID:16115913 PMID:9462708 PMID:17467893

RGD:2289874, RGD:2289906, RGD:2289871

NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340

G

Fms related receptor tyrosine kinase 1

mRNA:increased expression:uterine cervix

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

GNAS complex locus

ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More...

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

glycine rich extracellular protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:12,727,164...12,748,629
Ensembl chr10:12,727,166...12,741,819

G

H19 imprinted maternally expressed transcript

mRNA:decreased expression:uterine cervix

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

histone deacetylase 1

protein:increased expression:uterine cervix

RGD

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

G

histone deacetylase 2

protein:increased expression:uterine cervix

RGD

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

histone deacetylase 6

protein:increased expression:uterine cervix

RGD

NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

HRas proto-oncogene, GTPase

mRNA:increased expression:uterine cervix
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

kinase insert domain receptor

disease_progression

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KRAS proto-oncogene, GTPase

DNA:point mutation:exon (human)

RGD

NCBI chr 4:178,185,418...178,218,484

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

mitogen activated protein kinase 1

ClinVar Annotator: match by term: Neoplasm of uterine cervix

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

matrix Gla protein

protein:increased expression:tumor, adjacent dysplastic cervical epithelium:7/8 (88%) cervical squamous cell carcinomas

NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667

G

mutL homolog 1

protein:decreased expression:uterine cervix

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

matrix metallopeptidase 2

protein:increased expression:uterine cervix

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

protein:decreased expression:uterine cervix
protein:increased expression:uterine cervix

RGD

PMID:17596548 PMID:15807307

RGD:2293504, RGD:2293515

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

mechanistic target of rapamycin kinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:18058806 PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 More...

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

NFE2 like bZIP transcription factor 2

ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:26619011 PMID:29018201

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

prohibitin 1

disease_progression

protein:increased expression:uterine cervix

RGD

NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042

G

protein inhibitor of activated STAT, 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:184,232,571...184,241,480

G

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

ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

POU class 4 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728

G

phosphatase and tensin homolog

DNA:amplification
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms
protein:decreased expression:uterine cervix

PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More...

RGD:2292501, RGD:2298701

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:uterine cervix, epithelial cell

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

retinoic acid receptor, beta

CTD Direct Evidence: marker/mechanism

NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288

G

RELA proto-oncogene, NF-kB subunit

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

RGD

PMID:16850495 PMID:17098279

RGD:2298759, RGD:2298756

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

RT1 class II, locus Db1

susceptibility

associated with Papillomavirus Infections

RGD

PMID:19272325 PMID:10755413 PMID:12447731

RGD:2306228, RGD:2314700, RGD:2314697

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

S-phase kinase associated protein 2

disease_progression

DNA, mRNA:amplification, increased expression:uterine cervix
associated with Papillomavirus Infections

RGD

PMID:18559093 PMID:19094580

RGD:2302384, RGD:2315036

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

SMAD family member 4

ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 More...

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

ST14 transmembrane serine protease matriptase

severity

mRNA, protein:increased expression:uterine cervix

RGD

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:uterine cervix
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25061499 PMID:17311011

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

telomerase RNA component

disease_progression

DNA:amplification:uterine cervix

RGD

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

protein:increased expression:uterine cervix
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19151717 PMID:17644806

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

thyroid hormone receptor beta

DNA:loss of heterozygosity (human)

RGD

NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916

G

TIMP metallopeptidase inhibitor 3

DNA:hypermethylation:promoter

RGD

PMID:16736496 PMID:17976707

RGD:2290415, RGD:2290412

NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839

G

DNA topoisomerase II alpha

RGD

NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p53

ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms

PMID:1631151 PMID:7737263 PMID:8023157 PMID:8276238 PMID:8344492 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

disease_progression

mRNA, protein:splice variant, increased expression:uterine cervix
mRNA:increased expression:uterine cervix
protein:increased expression:uterine cervix

RGD

PMID:11870517 PMID:17504382 PMID:16818688

RGD:2290589, RGD:2290582, RGD:2290586

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

tetraspanin 1

RGD

NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Neoplasm of uterine cervix

PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

G

vascular endothelial growth factor A

disease_progression

protein:increased expression:uterine cervix
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:26432044 PMID:19723043 PMID:19783962

RGD:2315456, RGD:2315454

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

Wnt family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:46,328,408...46,374,673
Ensembl chr 4:46,333,998...46,374,402

G

Wnt family member 5A

CTD Direct Evidence: marker/mechanism

NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234

G

X-linked inhibitor of apoptosis

severity

protein:increased expression:uterine cervix

RGD

NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747

uterine corpus cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:2557216 PMID:11805335 PMID:15279808 PMID:16864838 PMID:19535770 More...

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:7894493 PMID:8807330 PMID:9667259 PMID:10811118 PMID:11157798 More...

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:8524414 PMID:8665505 PMID:9585613 PMID:9667259 PMID:11030418 More...

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:16116423 PMID:17033622 PMID:21964575 PMID:24728327 PMID:25452441 More...

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:2557216 PMID:11805335 PMID:15279808 PMID:16864838 PMID:19535770 More...

NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748

G

checkpoint kinase 2

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:21876083 PMID:24713400 PMID:28492532

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

mutS homolog 2

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:9634524 PMID:11859205 PMID:21642682 PMID:36988593

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

mutS homolog 6

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:18269114 PMID:24362816 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More...

NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:9256433 PMID:29706350

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

RAD51 paralog C

ClinVar Annotator: match by term: Uterine corpus cancer

PMID:9536098 PMID:12966089 PMID:17576681 PMID:22538716 PMID:24139550 More...

NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248

uterine fibroid

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

susceptibility

DNA:polymorphisms: :

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

Bet1 golgi vesicular membrane trafficking protein-like

DNA:SNP:rs2280543(human)

RGD

NCBI chr 1:195,931,407...195,935,072
Ensembl chr 1:195,931,411...195,935,040

G

collagen type IV alpha 1 chain

DNA:hypomethylation:uterus (human)

RGD

NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412

G

collagen type IV alpha 2 chain

DNA:hypomethylation:uterus (human)

RGD

NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839

G

collagen type VI alpha 3 chain

DNA:hypomethylation:uterus (human)

RGD

NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471

G

death associated protein kinase 1

DNA:hypermethylation:uterus (human)

RGD

NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991

G

distal-less homeobox 3

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872

G

fumarate hydratase

ClinVar Annotator: match by term: Uterine leiomyoma

PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532

NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266

G

glutathione S-transferase, mu 5-like

mRNA:decreased expression:uterus (human)

NCBI chr 2:195,544,424...195,549,895
Ensembl chr 2:195,544,426...195,628,961

G

high mobility group AT-hook 2

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784

G

insulin receptor substrate 1

DNA:hypomethylation:uterus (human)

RGD

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

mediator complex subunit 12

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

G

NUAK family kinase 1

DNA:hypermethylation:uterus (human)

RGD

NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913

G

patched 1

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

RGD

NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790

G

TSC complex subunit 2

OMIM:150699

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

uterus interstitial leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bcl2-like 1

associated with Carcinoma, Renal Cell;protein:increased expression:uterus

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

WHIM syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM:193670
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More...

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

aspartyl-tRNA synthetase 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116

G

lactase

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456

G

minichromosome maintenance complex component 6

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,826,745...39,851,937
Ensembl chr13:39,826,763...39,851,960

G

microRNA 128-1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530

G

R3H domain containing 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,595,848...39,733,876
Ensembl chr13:39,595,848...39,733,876

G

RAB3 GTPase activating protein catalytic subunit 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169

G

UBX domain protein 4

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,740,064...39,772,493
Ensembl chr13:39,740,107...39,772,491

G

zinc finger RANBP2-type containing 3

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,440,653...39,595,782
Ensembl chr13:39,440,889...39,595,670

Term paths to the root

Path 1
Term	Annotations
disease	21128
disease of anatomical entity	18211
reproductive system disease	2991
female reproductive system disease	1978
uterine disease	519
Uterine Neoplasms	472
Endometrial Neoplasms +	282
Hereditary Leiomyomatosis and Renal Cell Cancer	13
Leiomyoma of Vulva and Esophagus	0
Uterine Adenosarcoma	0
Uterine Cervical Neoplasms +	236
uterine benign neoplasm +	38
uterine cancer +	322
Path 2
Term	Annotations
disease	21128
disease of anatomical entity	18211
Urogenital Diseases	5218
Female Urogenital Diseases and Pregnancy Complications	2432
Female Urogenital Diseases	1981
female reproductive system disease	1978
uterine disease	519
Uterine Neoplasms	472
Endometrial Neoplasms +	282
Hereditary Leiomyomatosis and Renal Cell Cancer	13
Leiomyoma of Vulva and Esophagus	0
Uterine Adenosarcoma	0
Uterine Cervical Neoplasms +	236
uterine benign neoplasm +	38
uterine cancer +	322

paths to the root