endometriosis - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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:	endometriosis	go back to main search page
Accession:	DOID:289	browse the term
Definition:	A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. (DO)
Synonyms:	exact_synonym:	ENDO1; endometrioma; endometriomas; endometrioses
	related_synonym:	ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1
	primary_id:	MESH:D004715
	alt_id:	MIM:131200
	xref:	EFO:0001065; ICD10CM:N80; ICD10CM:N80.9; ICD9CM:617; NCI:C3014
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants Sort by:
Rat (392) Mouse (383) Human (3949) Chinchilla (353) Bonobo (377) Dog (372) Squirrel (364) Pig (369) Green Monkey (372) Naked Mole-rat (355) All
Genes (372)

endometriosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 4 (PEL blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 3:73,821,887...74,106,617
Ensembl chr 3:73,821,134...74,106,579

G

ATP binding cassette subfamily C member 9

CTD Direct Evidence: marker/mechanism

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

G

ABI family member 3 binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr22:79,896,800...80,144,786
Ensembl chr22:79,964,684...80,143,496

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446

G

angiogenin

PMID:14748845 PMID:15236995

RGD:2325705 RGD:6892724

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

G

ANKH inorganic pyrophosphate transport regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 4:14,401,681...14,559,342
Ensembl chr 4:14,408,116...14,559,454

G

ankyrin repeat domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:84,248,133...84,257,276
Ensembl chr 9:84,247,241...84,257,170

G

anoctamin 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:96,013,244...96,415,282
Ensembl chr11:96,094,823...96,413,721

G

androgen receptor

no_association

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

G

amphiregulin

CTD Direct Evidence: marker/mechanism

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

G

Rho GTPase activating protein 28

CTD Direct Evidence: marker/mechanism

NCBI chr18:65,783,800...65,971,262
Ensembl chr18:65,808,866...65,973,180

G

aryl hydrocarbon receptor nuclear translocator

CTD Direct Evidence: marker/mechanism

G

BCL2 associated X, apoptosis regulator

treatment

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

G

BCL2 apoptosis regulator

treatment

protein:increased expression:endometrium

PMID:17693084 PMID:23406865 PMID:25937801

RGD:11353846 RGD:2293018 RGD:7257718

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

G

BCL2 like 1

treatment

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

G

baculoviral IAP repeat containing 5

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

G

bone morphogenetic protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944

G

bromodomain containing 8

CTD Direct Evidence: marker/mechanism

NCBI chr23:40,808,706...40,848,696
Ensembl chr23:40,827,739...40,849,030

G

complement C1r

CTD Direct Evidence: marker/mechanism

NCBI chr11:7,115,964...7,134,612
Ensembl chr11:7,125,367...7,134,758

G

C-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,868,925...27,890,143

G

C-C motif chemokine ligand 11

CTD Direct Evidence: marker/mechanism

PMID:18595729 PMID:30579999

NCBI chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460

G

C-C motif chemokine ligand 2

protein:increased expression:peritoneal fluid (human)

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

G

C-C motif chemokine ligand 22

CTD Direct Evidence: marker/mechanism

G

C-C motif chemokine ligand 5

mRNA:increased expression:endometrium (human)

NCBI chr16:29,351,214...29,361,317

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:89,846,670...89,863,432
Ensembl chr 8:89,848,077...89,862,037

G

CD226 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr18:9,790,483...9,900,376
Ensembl chr18:9,811,168...9,901,830

G

CD36 molecule (CD36 blood group)

mRNA, protein:decreased expression:macrophage

NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669

G

CD55 molecule (Cromer blood group)

CTD Direct Evidence: marker/mechanism

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

G

complement factor D

CTD Direct Evidence: marker/mechanism

NCBI chr 6:608,821...612,382
Ensembl chr 6:608,800...613,498

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:84,518,464...84,533,587
Ensembl chr15:84,516,478...84,532,969

G

cornichon family AMPA receptor auxiliary protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr25:5,014,111...5,338,994
Ensembl chr25:5,014,000...5,145,974

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

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

G

COP9 signalosome subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:34,136,457...34,167,810
Ensembl chr26:34,136,486...34,168,236

G

carboxypeptidase M

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,475,842...64,556,877
Ensembl chr11:64,478,106...64,556,278

G

colony stimulating factor 1

protein:increased expression:peritoneal fluid (human)

NCBI chr20:23,615,107...23,635,399

G

catenin beta 1

protein:increased expression:endometrium, epithelium, stroma (human)

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

G

C-X-C motif chemokine ligand 13

CTD Direct Evidence: marker/mechanism

NCBI chr 7:26,101,489...26,108,430
Ensembl chr 7:26,102,714...26,108,690

G

C-X-C motif chemokine ligand 14

CTD Direct Evidence: marker/mechanism

NCBI chr23:38,355,340...38,363,905
Ensembl chr23:38,355,341...38,363,680

G

C-X-C motif chemokine ligand 8

protein:increased expression:peritoneal fluid (human)

PMID:25704572 PMID:29962266

RGD:150520017 RGD:150521547

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

G

C-X-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121

G

cytochrome b5 type A

CTD Direct Evidence: marker/mechanism

NCBI chr18:5,599,198...5,636,620
Ensembl chr18:5,599,206...5,640,012

G

cytochrome P450 family 19 subfamily A member 1

CTD Direct Evidence: marker/mechanism

PMID:8550748 PMID:18815356 PMID:21958689 PMID:23406865

RGD:7257715 RGD:7257718

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

G

cytochrome P450 family 1 subfamily A member 1

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

G

dendrocyte expressed seven transmembrane protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:99,174,778...99,193,539
Ensembl chr 8:99,185,423...99,193,058

G

DEAD-box helicase 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:56,766,669...56,773,767
Ensembl chr16:56,767,186...56,773,464

G

DEPP autophagy regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:40,602,193...40,603,791
Ensembl chr 9:40,602,223...40,602,861

G

dicer 1, ribonuclease III

CTD Direct Evidence: marker/mechanism

NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006

G

iodothyronine deiodinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr24:57,521,806...57,536,508

G

dickkopf WNT signaling pathway inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:78,836,803...78,840,158
Ensembl chr 9:78,835,162...78,840,146

G

DNA methyltransferase 1

mRNA,protein:decreased expression:endometrium:

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

G

DNA methyltransferase 3 alpha

mRNA:increased expression:endometrium:

NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

DNA methyltransferase 3 beta

mRNA:increased expression:endometrium:

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

G

dual specificity phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532

G

estrogen receptor binding site associated antigen 9

protein:decreased expression:endometrium

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

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

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

G

early growth response 1

mRNA, protein:increased expression:ovary

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

ELAV like RNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:7,419,489...7,448,917
Ensembl chr 6:7,414,757...7,448,445

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:41,670,416...41,755,549

G

ERBB receptor feedback inhibitor 1

CTD Direct Evidence: marker/mechanism

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

G

estrogen receptor 1

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

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

PMID:15618247 PMID:17625110

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

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment

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

G

family with sequence similarity 180 member A

CTD Direct Evidence: marker/mechanism

NCBI chr21:104,411,934...104,428,708
Ensembl chr21:104,412,351...104,427,540

G

fibulin 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:27,962,669...28,061,356
Ensembl chr19:27,962,642...28,061,364

G

fibrillin 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217

G

fibroblast growth factor receptor 2

no_association

DNA:SNPs
mRNA:increased expression:ovary, epithelial cell

PMID:17482184 PMID:18285324

RGD:2301190 RGD:2301191

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

G

FKBP prolyl isomerase 5

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,432,595...36,551,233
Ensembl chr17:36,481,024...36,552,456

G

flavin containing dimethylaniline monoxygenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:57,869,866...57,892,359
Ensembl chr25:57,866,555...57,892,193

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

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

G

forkhead box P3

severity

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

G

GC vitamin D binding protein

severity

NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265

G

growth hormone releasing hormone

mRNA:decreased expression:ovary

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

G

G protein-coupled estrogen receptor 1

protein:increased expression:endometrium, cytoplasm (human)
protein:decreased expression:endometrium (mouse)

PMID:22520060 PMID:32152908

RGD:39938861 RGD:39939083

NCBI chr28:20,491,874...20,497,966
Ensembl chr28:20,492,188...20,493,315

G

glutathione peroxidase 3

CTD Direct Evidence: marker/mechanism

PMID:20864642 PMID:21063030

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

G

heparin binding EGF like growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr23:42,981,640...42,995,116
Ensembl chr23:42,981,640...42,994,995

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

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

G

histone deacetylase 2

treatment

CTD Direct Evidence: marker/mechanism
protein:decreased expression:ectopic endometrium, dorsal root ganglion:

PMID:20884991 PMID:22138541

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

G

histone deacetylase 3

OMIM:131200

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

G

HECT and RLD domain containing E3 ubiquitin protein ligase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:36,817,118...36,867,712
Ensembl chr 7:36,819,708...36,867,933

G

hydroxysteroid 17-beta dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:63,730,303...63,733,974
Ensembl chr16:63,728,777...63,732,411

G

hydroxysteroid 17-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

PMID:18815356 PMID:21232532

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

G

indoleamine 2,3-dioxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505

G

interferon induced protein with tetratricopeptide repeats 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:82,778,546...82,797,678
Ensembl chr 9:82,785,898...82,798,621

G

interferon gamma

mRNA:increased expression:colon

NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473

G

interferon gamma receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542

G

insulin like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308

G

insulin like growth factor binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:12,932,727...12,939,078
Ensembl chr21:12,932,732...12,937,891

G

insulin like growth factor binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr11:49,209,135...49,213,803
Ensembl chr11:49,209,136...49,213,858

G

Indian hedgehog signaling molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:104,960,296...104,966,596
Ensembl chr10:104,960,120...104,966,585

G

interleukin 10

treatment

CTD Direct Evidence: marker/mechanism

PMID:21665488 PMID:30579999

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

G

interleukin 15

CTD Direct Evidence: marker/mechanism

NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488

G

interleukin 1 beta

ClinVar Annotator: match by term: Endometriosis

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

G

interleukin 1 family member 10

ClinVar Annotator: match by term: Endometriosis

NCBI chr14:16,087,676...16,097,214
Ensembl chr14:16,093,289...16,095,927

G

interleukin 1 receptor type 1

CTD Direct Evidence: marker/mechanism

PMID:20864642 PMID:21063030

NCBI chr14:5,781,486...5,852,872
Ensembl chr14:5,781,479...5,855,942

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Endometriosis

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 36 alpha

ClinVar Annotator: match by term: Endometriosis

NCBI chr14:16,017,847...16,030,680
Ensembl chr14:16,028,002...16,030,097

G

interleukin 36 beta

ClinVar Annotator: match by term: Endometriosis

NCBI chr14:16,043,133...16,054,750

G

interleukin 36 gamma

ClinVar Annotator: match by term: Endometriosis

NCBI chr14:15,997,954...16,007,394
Ensembl chr14:16,000,301...16,006,810

G

interleukin 36 receptor antagonist

ClinVar Annotator: match by term: Endometriosis

NCBI chr14:16,079,045...16,085,245
Ensembl chr14:16,079,906...16,083,167

G

interleukin 7 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361

G

inositol monophosphatase 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:69,389,414...69,436,128
Ensembl chr18:69,389,606...69,436,191

G

integrin subunit alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,201,030...32,258,247
Ensembl chr 9:32,202,204...32,258,154

G

integrin subunit beta 3 binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:69,564,456...69,638,157

G

integrin subunit beta 8

CTD Direct Evidence: marker/mechanism

NCBI chr21:37,811,811...37,896,539
Ensembl chr21:37,817,572...37,895,560

G

kinase insert domain receptor

mRNA:increased expression:endometrium

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

G

KLF transcription factor 13

CTD Direct Evidence: marker/mechanism

NCBI chr26:51,308,233...51,359,433
Ensembl chr26:51,313,743...51,359,340

G

KLF transcription factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr12:81,451,210...81,481,384
Ensembl chr12:81,454,394...81,480,094

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism
OMIM:131200

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

G

laminin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:76,829,287...76,914,348
Ensembl chr21:76,829,443...76,914,324

G

leiomodin 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:27,460,230...27,511,667
Ensembl chr25:27,460,460...27,511,024

G

cytochrome P450 26A1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:86,310,142...86,328,622
Ensembl chr 9:86,325,401...86,328,775

G

paired box protein Pax-2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:93,763,975...93,847,180

G

growth regulating estrogen receptor binding 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:95,967,736...96,174,324
Ensembl chr14:95,967,699...96,019,165

G

aldo-keto reductase family 1 member B1

CTD Direct Evidence: marker/mechanism

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

G

heparan sulfate glucosamine 3-O-sulfotransferase 3B1

CTD Direct Evidence: marker/mechanism

NCBI chr16:13,604,377...13,653,247
Ensembl chr16:13,604,297...13,653,242

G

leucine rich repeat kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:36,490,775...36,634,215
Ensembl chr11:36,492,011...36,634,216

G

lactotransferrin

CTD Direct Evidence: marker/mechanism

NCBI chr22:7,867,332...7,896,403
Ensembl chr22:7,867,286...7,894,521

G

LYN proto-oncogene, Src family tyrosine kinase

mRNA:increased expression:uterus

NCBI chr 8:51,919,656...52,057,376
Ensembl chr 8:51,919,808...52,057,959

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,834,158...40,920,404
Ensembl chr X:40,834,159...40,920,444

G

monoamine oxidase B

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,936,789...41,054,547
Ensembl chr X:40,936,711...41,054,641

G

mitogen-activated protein kinase 8

mRNA:increased expression:peritoneum (human)

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

G

midkine

NCBI chr 1:18,945,355...18,948,394
Ensembl chr 1:18,946,378...18,947,134

G

mediator complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:66,719,393...66,764,902
Ensembl chr16:66,719,423...66,762,896

G

mediator complex subunit 14

CTD Direct Evidence: marker/mechanism

NCBI chr X:37,810,996...37,898,114
Ensembl chr X:37,810,710...37,897,929

G

mediator complex subunit 16

CTD Direct Evidence: marker/mechanism

NCBI chr 6:617,998...638,340

G

mediator complex subunit 17

CTD Direct Evidence: marker/mechanism

NCBI chr 1:85,031,407...85,060,562
Ensembl chr 1:85,031,716...85,059,285

G

mediator complex subunit 4

CTD Direct Evidence: marker/mechanism

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

G

major histocompatibility complex, class II, DP beta 1

CTD Direct Evidence: marker/mechanism

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

G

matrix metallopeptidase 2

mRNA:increased expression:endometrium

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

G

matrix metallopeptidase 9

mRNA:increased expression:endometrium

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

G

metastasis associated 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:83,315,917...83,368,746

G

metastasis associated 1 family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:11,303,145...11,311,792
Ensembl chr 1:11,303,494...11,311,379

G

myosin regulatory light chain interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,021,151...56,040,175
Ensembl chr17:56,022,369...56,040,169

G

nuclear receptor coactivator 1

CTD Direct Evidence: marker/mechanism

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

G

nuclear receptor coactivator 6

CTD Direct Evidence: marker/mechanism

NCBI chr 2:39,013,364...39,129,723
Ensembl chr 2:39,013,232...39,129,658

G

nuclear receptor corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,442,315...15,629,411
Ensembl chr16:15,462,640...15,628,512

G

neuron derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:68,320,045...68,356,644
Ensembl chr 7:68,320,690...68,356,577

G

NEDD4 like E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,326,276...21,683,817
Ensembl chr18:21,327,567...21,683,905

G

neurofilament medium chain

CTD Direct Evidence: marker/mechanism

NCBI chr 8:23,039,187...23,044,668
Ensembl chr 8:23,039,282...23,044,667

G

NFKB inhibitor alpha

NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854

G

nuclear receptor subfamily 1 group D member 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:68,632,142...68,668,467
Ensembl chr15:68,632,197...68,665,258

G

nuclear receptor subfamily 2 group C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:90,430,307...90,481,269
Ensembl chr11:90,430,194...90,481,493

G

nuclear receptor subfamily 2 group C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:50,882,569...50,983,851
Ensembl chr22:50,894,802...50,977,581

G

nuclear receptor subfamily 2 group F member 2

CTD Direct Evidence: marker/mechanism

NCBI chr29:14,889,526...14,901,848
Ensembl chr29:14,891,737...14,903,813

G

nuclear receptor subfamily 2 group F member 6

CTD Direct Evidence: marker/mechanism

NCBI chr 6:15,728,489...15,753,019
Ensembl chr 6:15,725,021...15,753,171

G

nuclear receptor subfamily 3 group C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125

G

nuclear receptor subfamily 3 group C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:94,574,010...94,935,348

G

nuclear receptor subfamily 4 group A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:48,208,354...48,232,857
Ensembl chr11:48,208,587...48,233,063

G

nuclear receptor subfamily 5 group A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:13,640,453...13,666,748
Ensembl chr12:13,640,473...13,666,863

G

neuropilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,474,787...32,632,746
Ensembl chr 9:32,474,309...32,633,101

G

neurotrophic receptor tyrosine kinase 1

mRNA, protein:increased expression:spinal ganglia, uterus

NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670

G

neurotrophic receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr29:6,441,824...6,831,029
Ensembl chr29:6,447,256...6,830,526

G

olfactomedin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:30,753,677...30,810,980
Ensembl chr 3:30,787,999...30,810,980

G

odd-skipped related transciption factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:93,831,218...93,839,098
Ensembl chr 8:93,831,480...93,839,263

G

pappalysin 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:23,182,856...23,427,092
Ensembl chr12:23,184,704...23,427,165

G

progesterone receptor

CTD Direct Evidence: marker/mechanism

PMID:16126772 PMID:20864642 PMID:21166214 PMID:21232532

RGD:1601277 RGD:7248704

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

G

phospholipase A2 group IIA

CTD Direct Evidence: marker/mechanism

NCBI chr20:112,564,414...112,569,735
Ensembl chr20:112,565,165...112,569,786

G

polo like kinase 1

mRNA, protein:increased expression

NCBI chr 5:21,388,957...21,408,574
Ensembl chr 5:21,396,204...21,410,718

G

plexin C1

CTD Direct Evidence: marker/mechanism

NCBI chr11:89,549,312...89,701,890

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631

G

prolactin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,933,601...34,108,653
Ensembl chr 4:33,949,935...34,108,619

G

prostaglandin E receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr24:29,395,799...29,410,723
Ensembl chr24:29,396,464...29,409,575

G

prostaglandin E receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:39,440,697...39,453,983
Ensembl chr 4:39,440,276...39,454,004

G

prostaglandin E synthase

mRNA, protein:increased expression:epithelial cell

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

G

prostaglandin F receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:54,660,329...54,706,212
Ensembl chr20:54,659,197...54,704,452

G

prostaglandin-endoperoxide synthase 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:20056215 PMID:23406865 PMID:25446850

RGD:5135061 RGD:7257718

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

G

protein tyrosine kinase 2

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

G

protein tyrosine phosphatase non-receptor type 22

NCBI chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827

G

retinoic acid receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr15:69,851,447...70,266,215
Ensembl chr15:70,096,117...70,264,905

G

RAS guanyl releasing protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:44,405,007...44,483,291

G

RAS like family 11 member A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:6,463,317...6,466,747
Ensembl chr 3:6,463,950...6,466,494

G

recombination signal binding protein for immunoglobulin kappa J region

CTD Direct Evidence: marker/mechanism

NCBI chr27:23,911,084...24,023,856

G

regulator of G protein signaling 4

CTD Direct Evidence: marker/mechanism

NCBI chr25:65,729,344...65,735,278
Ensembl chr25:65,726,394...65,735,381

G

RAR related orphan receptor B

CTD Direct Evidence: marker/mechanism

NCBI chr12:85,545,609...85,735,804
Ensembl chr12:85,545,608...85,732,780

G

relaxin family peptide receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:105,078,422...105,203,929
Ensembl chr 7:105,122,424...105,202,589

G

secretoglobin family 3A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:82,315,106...82,317,600

G

selenoprotein P

CTD Direct Evidence: marker/mechanism

NCBI chr 4:41,544,098...41,556,152

G

selectin L

mRNA:increased expression:endometrium

NCBI chr25:59,345,080...59,365,684
Ensembl chr25:59,345,069...59,366,946

G

serpin family F member 1

treatment

protein:decreased expression:endometrium (rat)
human protein in a rat model

PMID:22975116 PMID:23466670

RGD:8590225 RGD:8638001

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

G

solute carrier family 16 member 6

CTD Direct Evidence: marker/mechanism

NCBI chr16:53,240,968...53,264,487
Ensembl chr16:53,242,731...53,264,487

G

solute carrier family 1 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:74,949,560...75,041,455
Ensembl chr12:74,949,028...75,041,369

G

solute carrier family 20 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,657,888...15,676,649
Ensembl chr14:15,659,361...15,676,645

G

solute carrier family 40 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:75,076,286...75,097,742
Ensembl chr10:75,075,971...75,096,271

G

solute carrier family 7 member 8

CTD Direct Evidence: marker/mechanism

NCBI chr29:23,493,987...23,556,834
Ensembl chr29:23,493,715...23,556,857

G

sphingomyelin phosphodiesterase acid like 3A

CTD Direct Evidence: marker/mechanism

NCBI chr13:50,996,472...51,017,056
Ensembl chr13:50,996,674...51,016,108

G

SPARC like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:35,858,402...35,914,776
Ensembl chr 7:35,857,559...35,915,115

G

serine peptidase inhibitor Kazal type 1

disease_progression

protein:increased expression:serum

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

G

steroid 5 alpha-reductase 1

CTD Direct Evidence: marker/mechanism

PMID:21232532 PMID:23183084

NCBI chr 4:6,312,770...6,348,449
Ensembl chr 4:6,312,757...6,350,550

G

steroid 5 alpha-reductase 2

CTD Direct Evidence: marker/mechanism

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

G

somatostatin

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,946,287...81,947,775
Ensembl chr15:81,946,206...81,947,790

G

stanniocalcin 2

CTD Direct Evidence: marker/mechanism

NCBI chr23:75,475,020...75,489,727
Ensembl chr23:75,475,022...75,488,678

G

succinate-CoA ligase GDP-forming subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr22:28,382,612...28,677,749
Ensembl chr22:28,381,787...28,677,742

G

sulfatase 2

CTD Direct Evidence: marker/mechanism

PMID:20864642 PMID:21063030

NCBI chr 2:16,140,307...16,270,787
Ensembl chr 2:16,140,427...16,268,750

G

tumor associated calcium signal transducer 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:74,403,547...74,406,756

G

transgelin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:108,570,342...108,575,789
Ensembl chr 1:108,574,007...108,575,348

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470

G

thyroid hormone receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr16:66,087,071...66,118,137

G

thiol methyltransferase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr11:47,141,887...47,148,430
Ensembl chr11:47,141,867...47,149,110

G

tenascin C

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451

G

tumor necrosis factor

treatment

ClinVar Annotator: match by term: Endometriosis

PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More...

G

TNF receptor superfamily member 1B

treatment

human protein in rat model

PMID:21481092 PMID:21741153

RGD:5131251 RGD:7247423

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

G

transducer of ERBB2, 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:42,479,823...42,483,964
Ensembl chr16:42,482,161...42,483,198

G

thyrotropin releasing hormone

CTD Direct Evidence: marker/mechanism

NCBI chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236

G

thioredoxin interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,756,145...12,759,853
Ensembl chr20:12,756,053...12,761,177

G

uronyl 2-sulfotransferase

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,595,088...22,934,184

G

vav guanine nucleotide exchange factor 1

mRNA:increased expression:endometrium

NCBI chr 6:6,337,255...6,415,851

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr 4:77,581,627...77,692,495
Ensembl chr 4:77,593,449...77,690,616

G

vascular endothelial growth factor A

mRNA:increased expression:endometrium

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

G

vasoactive intestinal peptide

NCBI chr13:80,217,602...80,228,320
Ensembl chr13:80,218,572...80,228,278

endometrial adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 1

protein:increased expression:endometrium epithelium

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

G

angiopoietin 2

protein:increased expression:endometrium epithelium

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

G

AT-rich interaction domain 1A

treatment

human cell in mouse model

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

G

axin 2

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

G

Bet1 golgi vesicular membrane trafficking protein like

disease_progression

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

G

CD55 molecule (Cromer blood group)

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

G

estrogen receptor binding site associated antigen 9

protein:increased expression:endometrium

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

G

forkhead box O3

severity

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

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

G

glutathione peroxidase 3

mRNA:decreased expression:endometrium (rat)

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

G

interferon regulatory factor 1

DNA:deletions (rat)

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

G

Jun proto-oncogene, AP-1 transcription factor subunit

no_association

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

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

G

KRAS proto-oncogene, GTPase

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

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

G

mitogen-activated protein kinase 1

treatment

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

PMID:14760076 PMID:23402905

RGD:13703125 RGD:13703137

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

G

mitogen-activated protein kinase 3

treatment

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

PMID:14760076 PMID:23402905

RGD:13703125 RGD:13703137

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

G

programmed cell death 10

disease_progression

protein:increased expression:endometrium (human)

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

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

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

G

phosphatase and tensin homolog

ameliorates

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

G

prostaglandin E synthase

protein:increased expression:endometrium

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

G

ribonucleotide reductase regulatory subunit M2

DNA:amplification (rat)

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

G

transforming growth factor beta receptor 3

mRNA:decreased expression:endometrium

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

G

tumor protein p53

disease_progression

DNA:missense mutations
protein:increased expression:endometrium

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

G

tumor susceptibility 101

mRNA:alternative forms

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

endometrial cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 3

susceptibility

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

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

G

alpha fetoprotein

severity

protein:increased expression:serum

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

G

AKT serine/threonine kinase 2

severity

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

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

G

angiogenin

protein:increased expression:serum

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

G

APC regulator of WNT signaling pathway

severity
treatment

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

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

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

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

G

apurinic/apyrimidinic endodeoxyribonuclease 1

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

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

G

androgen receptor

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

G

AT-rich interaction domain 1A

onset

protein:decreased expression:endometrium (human)

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

G

ATM serine/threonine kinase

susceptibility

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

G

BCL2 associated agonist of cell death

disease progression

protein:altered expression:endometrium (human)

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

G

BAG cochaperone 1

protein:increased expression:endometrium

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

G

BCL2 like 1

protein:increased expression:endometrium

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

G

BRCA2 DNA repair associated

DNA:deletion, frameshift mutation

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

G

bone marrow stromal cell antigen 2

treatment

protein:increased expression:endometrium:

PMID:22729361 PMID:26498112

RGD:14398492 RGD:14398498

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

G

CD59 molecule (CD59 blood group)

protein:increased expression:endometrium

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

G

CD9 molecule

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

G

cell division cycle 25B

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

G

cell division cycle 25C

DNA:mutation (human)

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

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

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

G

catechol-O-methyltransferase

no_association
susceptibility

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

PMID:12810635 PMID:15285606 PMID:17442187

RGD:2289714 RGD:2289721 RGD:2289723

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

G

cytochrome P450 family 19 subfamily A member 1

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

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

G

cytochrome P450 family 1 subfamily A member 1

DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA)

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

G

cytochrome P450 family 1 subfamily A member 2

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

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

G

dihydrofolate reductase

ClinVar Annotator: match by term: MSH3-related condition

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

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

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
ameliorates

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

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

G

epidermal growth factor

severity

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

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

G

ERBB receptor feedback inhibitor 1

OMIM:608089

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

G

fibroblast growth factor 1

disease_progression

mRNA:increased expression:myometrium

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

G

fibroblast growth factor 2

disease_progression

mRNA, protein:increased expression:myometrium

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

G

growth hormone releasing hormone

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

PMID:10022420 PMID:15784701

RGD:2289974 RGD:2301423

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

G

homeobox B13

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

G

HtrA serine peptidase 2

protein:decreased expression:endometrium (human)

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

G

interleukin 10

protein:increased expression:serum

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

G

Janus kinase 1

severity

DNA:frameshift mutations

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

G

junction plakoglobin

protein:decreased expression:endometrium

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

G

cadherin-1

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

G

lymphotoxin alpha

susceptibility

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

G

microcephalin 1

DNA:deletions:exons:multiple (human)

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

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial cancer

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

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

G

matrix metallopeptidase 7

disease_progression

protein:increased expression:endometrium

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

G

MRE11 homolog, double strand break repair nuclease

DNA:deletions:intron:IVS4_delT (human)

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

G

mutS homolog 3

ClinVar Annotator: match by term: MSH3-related condition

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

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

G

mutS homolog 6

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

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial cancer, somatic

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

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

G

notch receptor 1

mRNA:increased expression:endometrium

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

G

notch receptor 4

mRNA:decreased expression:endometrium

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

G

phosphoglucomutase 1

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

G

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

onset

mRNA:increased expression:endometrium (human)

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

G

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

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

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

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

G

DNA polymerase epsilon, catalytic subunit

ameliorates
onset
disease_progression

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

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

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

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

G

phosphatase and tensin homolog

OMIM:608089

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

G

RAD21 cohesin complex component

onset

DNA:CNV: (human)

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

G

ring finger protein 43

DNA:mutations:multiple: (human)

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

G

sex hormone binding globulin

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

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

G

SMAD family member 2

protein:increased expression:endometrium

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

G

SMAD family member 3

protein:increased expression:endometrium

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

G

SMAD family member 7

disease_progression

mRNA:increased expression:endometrium

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

G

suppressor of cytokine signaling 2

DNA:hypermethylated

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

G

sperm associated antigen 9

protein:increased expression:serum:

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

G

serine/threonine kinase 11

OMIM:608089

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

G

sulfotransferase family 1E member 1

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

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

G

trefoil factor 1

mRNA, protein:increased expression:endometrium

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

G

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:endometrium

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

G

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

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

G

TNF receptor superfamily member 1B

protein:increased expression:serum (human)

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

G

tumor protein p53

OMIM:608089

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

G

thymidine phosphorylase

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

G

WT1 transcription factor

disease_progression

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

endometrial carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

onset

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

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

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

G

apoptosis resistant E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

aurora kinase A

mRNA, protein:increased expression:endometrium

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

G

aurora kinase B

disease_progression

mRNA, protein:increased expression:endometrium

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

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

BRICHOS domain containing 5

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

basigin (Ok blood group)

disease_progression

protein:increased expression:endometrium

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

G

CASK interacting protein 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

cyclin B1

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

G

CD82 molecule

disease_progression

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

G

cadherin 13

disease_progression

DNA:hypomethylation

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

G

checkpoint kinase 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

chromosome unknown C11orf65 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

dihydrofolate reductase

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

deoxyribonuclease 1 like 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

E4F transcription factor 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

enoyl-CoA delta isomerase 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

endoplasmic reticulum aminopeptidase 1

disease_progression

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

G

fibroblast growth factor 7

mRNA:decreased expression:endometrium

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

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

growth factor receptor bound protein 2

severity

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

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

G

glycogen synthase kinase 3 beta

severity

protein:increased expression:endometrium (human)

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

G

histone deacetylase 3

disease_progression

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

G

HRas proto-oncogene, GTPase

disease_progression

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

PMID:8960147 PMID:9641239

RGD:13441555 RGD:13781876

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

G

Jun proto-oncogene, AP-1 transcription factor subunit

disease_progression

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

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

G

KiSS-1 metastasis suppressor

disease_progression

mRNA:decreased expression:endometrium

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

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

ATP-binding cassette sub-family A member 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

cadherin-1

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:2449335 PMID:3028782 PMID:8075649 PMID:9537325 PMID:9744472 More...

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

G

mismatch repair endonuclease PMS2

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mitogen-activated protein kinase 1

severity

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

PMID:22459351 PMID:29081408

RGD:13441552 RGD:13702082

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

G

mitogen-activated protein kinase 3

severity

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

PMID:22459351 PMID:29081408

RGD:13441552 RGD:13702082

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

G

mutL homolog 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:12702580 PMID:16199547 PMID:17656264 PMID:22290698 PMID:25741868 More...

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

G

MTOR associated protein, LST8 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

matrix metallopeptidase 8

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

G

matrix metallopeptidase 9

disease_progression

protein:increased expression:endometrium

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

G

mutS homolog 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mutS homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mutS homolog 6

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

nuclear receptor coactivator 1

mRNA:increased expression:endometrium

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

G

nuclear receptor corepressor 2

mRNA:increased expression:endometrium

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

G

nitric oxide synthase 3

disease_progression

protein:increased expression:endometrium

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

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

phosphoglycolate phosphatase

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

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

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

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

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

protein kinase C alpha

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

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

prostaglandin-endoperoxide synthase 1

disease_progression

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

G

protein tyrosine kinase 2

severity

protein:increased expression:endometrium

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

G

RAB26, member RAS oncogene family

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

RAD51 paralog C

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

Ras association domain family member 1

DNA, protein:hypermethylation, decreased expression:promoter,

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

G

RNA binding protein with serine rich domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

RUNX family transcription factor 3

DNA:promoter:hypermethylated

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

G

stratifin

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

G

SMAD family member 4

severity

DNA:substitutions:promoter
mRNA:decreased expression:endometrium

PMID:10331746 PMID:15385128

RGD:2299966 RGD:2300009

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

G

secreted protein acidic and cysteine rich

DNA, mRNA, protein:hypermethylation, altered expression

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

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:25741868 PMID:26467025 PMID:28492532

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

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

testin LIM domain protein

severity
exacerbates

NCBI chr21:84,913,067...84,963,290
Ensembl chr21:84,913,093...84,963,303

G

trefoil factor 1

disease_progression

protein:increased expression:endometrium

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

G

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:endometrium

G

TIMP metallopeptidase inhibitor 2

disease_progression

mRNA:decreased expression:endometrium

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

G

TIMP metallopeptidase inhibitor 4

disease_progression

protein:increased expression:endometrium

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

G

tumor protein p53

severity

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

PMID:18431720 PMID:25741868 PMID:28492532

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

G

TNF receptor associated factor 7

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

TSC complex subunit 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

Wnt family member 2

mRNA:decreased expression:endometrium

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

G

Wnt family member 3

mRNA:decreased expression:tumor:vs normal endometrium

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

G

Wnt family member 4

mRNA:decreased expression:tumor:vs normal endometrium

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

G

Wnt family member 5A

mRNA:decreased expression:tumor:vs normal endometrium

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

endometrial serous adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma

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

G

BRCA2 DNA repair associated

susceptibility

DNA:deletion: :6174delT

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

G

mutS homolog 6

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

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

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

endometrial stromal sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

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

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

Endometrioid Carcinomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

DNA:hypermethylation: (human)

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

G

amphiregulin

mRNA, protein:increased expression:endometrium

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

G

ATPase copper transporting beta

disease_progression

protein:increased expression:endometrium

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

G

baculoviral IAP repeat containing 5

protein:increased expression:endometrium

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

G

bone morphogenetic protein 4

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

G

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

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

G

cyclin E1

protein:increased expression:endometrium

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

G

cyclin dependent kinase 2

severity

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

G

cyclin dependent kinase inhibitor 1B

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

G

checkpoint kinase 2

susceptibility

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

G

catenin beta 1

DNA:mutations

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

G

death domain associated protein

protein:increased expression:ovary:

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

G

DNA methyltransferase 1

mRNA,protein:increased expression:uterus:

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

G

DNA methyltransferase 3 beta

mRNA,protein:increased expression:uterus:

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

G

epidermal growth factor receptor

mRNA:decreased expression:endometrium

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

G

enolase 2

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

G

erb-b2 receptor tyrosine kinase 2

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

G

erb-b2 receptor tyrosine kinase 3

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

G

erb-b2 receptor tyrosine kinase 4

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

G

estrogen receptor 1

severity

protein:increased phosphorylation

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

G

fibroblast growth factor receptor 2

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

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

G

insulin like growth factor binding protein 3

disease_progression

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

G

inhibin subunit alpha

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

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

G

inhibin subunit beta A

protein:decreased expression:endometrium

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

G

kinase insert domain receptor

severity

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

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

G

KRAS proto-oncogene, GTPase

associated with Ovarian Neoplasms

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

G

leucyl and cystinyl aminopeptidase

associated with Endometrial Neoplasms

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

G

cadherin-1

protein:decreased expression:endometrium

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

G

mitogen-activated protein kinase 1

treatment

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

G

mitogen-activated protein kinase 3

treatment

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

G

mesothelin

CTD Direct Evidence: marker/mechanism

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

G

NK2 homeobox 1

DNA:hypermethylation

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

G

platelet derived growth factor receptor alpha

protein:decreased expression:ovary

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

G

platelet derived growth factor receptor beta

protein:increased expression:ovary

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

G

DNA polymerase epsilon, catalytic subunit

ameliorates

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

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

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

G

phosphatase and tensin homolog

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

PMID:11156411 PMID:17418409

RGD:12802357 RGD:2289817

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

G

secreted phosphoprotein 1

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

G

ST14 transmembrane serine protease matriptase

associated with Ovarian Neoplasms;protein:increased expression:ovary

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

G

WNT inhibitory factor 1

mRNA:increased expression:ovary

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

endometriosis of pelvic peritoneum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD68 molecule

protein:increased expression:peritoneum (human)

NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042

endometriosis of uterus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

disease_progression

NCBI chr X:89,690,569...89,727,420

G

DNA methyltransferase 1

protein:increased expression:ectopic endometrium:

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

G

DNA methyltransferase 3 alpha

protein:decreased expression:endometrium:

NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

DNA methyltransferase 3 beta

protein:increased expression:ectopic endometrium:

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

gestational trophoblastic neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

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

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

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

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

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

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

NCBI chr13:11,560,543...11,578,070
Ensembl chr13:11,560,222...11,578,093

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chr16:61,505,796...61,549,720
Ensembl chr16:61,505,825...61,551,890

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole

NCBI chr17:1,781,156...1,783,344
Ensembl chr17:1,781,026...1,783,111

G

mutL homolog 1

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

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

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

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

G

mutS homolog 2

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

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

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

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

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Hydatidiform mole

PMID:19246479 PMID:24033266 PMID:25741868

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

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

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

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

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

Hydatidiform Mole, Recurrent, 1

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: Hydatidiform mole, recurrent, 1 | ClinVar Annotator: match by term: NLRP7-related condition

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

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

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 | ClinVar Annotator: match by term: NLRP7-related condition

PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More...

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

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 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 | ClinVar Annotator: match by term: KHDC3L-related condition

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

NCBI chr17:1,781,156...1,783,344
Ensembl chr17:1,781,026...1,783,111

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 | ClinVar Annotator: match by term: MEI1-related condition

PMID:25741868 PMID:28492532 PMID:30388401

NCBI chr19:24,233,516...24,331,176
Ensembl chr19:24,231,807...24,331,022

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 | ClinVar Annotator: match by term: TOP6BL-related condition

PMID:25741868 PMID:28492532 PMID:30388401

Term paths to the root

Path 1
Term	Annotations
disease	15417
disease of anatomical entity	15080
reproductive system disease	3071
female reproductive system disease	2097
endometriosis	372
endometrial cancer +	188
endometriosis in scar of skin	0
endometriosis of intestine	0
endometriosis of ovary	0
endometriosis of pelvic peritoneum	1
endometriosis of rectovaginal septum and vagina	0
endometriosis of uterus	4
endosalpingiosis	0
fallopian tube endometriosis	0
Path 2
Term	Annotations
disease	15417
disease of anatomical entity	15080
Urogenital Diseases	4835
Female Urogenital Diseases and Pregnancy Complications	2538
Female Urogenital Diseases	2100
female reproductive system disease	2097
endometriosis	372
endometrial cancer +	188
endometriosis in scar of skin	0
endometriosis of intestine	0
endometriosis of ovary	0
endometriosis of pelvic peritoneum	1
endometriosis of rectovaginal septum and vagina	0
endometriosis of uterus	4
endosalpingiosis	0
fallopian tube endometriosis	0

paths to the root