endometrial cancer - 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:	endometrial cancer	go back to main search page
Accession:	DOID:1380	browse the term
Definition:	A uterine cancer that is located_in tissues lining the uterus. (DO)
Synonyms:	exact_synonym:	cancer of endometrium; cancer of the endometrium; endometrial Ca; endometrial cancers; endometrial neoplasm; endometrium cancer; endometrium cancers; malignant endometrial neoplasm; malignant neoplasm of endometrium; neoplasm of endometrium; primary malignant neoplasm of endometrium; tumor of endometrium
	narrow_synonym:	endometrial cancer, somatic
	broad_synonym:	MSH3-RELATED CONDITION
	primary_id:	MIM:608089
	xref:	EFO:0004230; GARD:11981; ICD10CM:C54.1; NCI:C27815; NCI:C3012
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (208) Mouse (198) Human (2586) Chinchilla (180) Bonobo (193) Dog (193) Squirrel (184) Pig (192) Green Monkey (189) Naked Mole-rat (181) All
Genes (199) QTL (5) Cell Lines (4)

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
Ensembl chr 1:141,253,523...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

susceptibility

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:21128252 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 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 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

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:25085752 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:15987719 PMID:16140997 PMID:16338133 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 serous adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma

NCBI chr 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

G

mutS homolog 6

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

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

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

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

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

NCBI chr 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

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

Term paths to the root

Path 1
Term	Annotations
disease	19099
disease of anatomical entity	18440
reproductive system disease	3178
female reproductive system disease	2175
endometriosis	389
endometrial cancer	204
endometrial carcinoma +	136
endometrial stromal tumor +	1
gestational trophoblastic neoplasm +	12
vaginal endometrial stromal sarcoma	0
Path 2
Term	Annotations
disease	19099
disease of anatomical entity	18440
Urogenital Diseases	5375
Female Urogenital Diseases and Pregnancy Complications	2652
Female Urogenital Diseases	2178
female reproductive system disease	2175
Female Genital Neoplasms	1006
female reproductive organ cancer	815
uterine cancer	323
endometrial cancer	204
endometrial carcinoma +	136
endometrial stromal tumor +	1
gestational trophoblastic neoplasm +	12
vaginal endometrial stromal sarcoma	0

paths to the root