endometriosis - 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:	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.

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 (377)

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 chr13:76,193,929...76,476,119
Ensembl chr13:95,349,915...95,582,058

G

ATP binding cassette subfamily C member 9

CTD Direct Evidence: marker/mechanism

NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

G

ABI family member 3 binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:97,842,070...98,086,311
Ensembl chr 3:104,523,470...104,765,688

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080

G

aldo-keto reductase family 1 member B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095

G

aldo-keto reductase family 1 member C3

CTD Direct Evidence: marker/mechanism

PMID:21232532 PMID:25446850

NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812

G

angiogenin

PMID:14748845 PMID:15236995

RGD:2325705 RGD:6892724

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

G

ANKH inorganic pyrophosphate transport regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 5:15,014,019...15,175,467
Ensembl chr 5:14,855,914...14,917,729

G

ankyrin repeat domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165

G

anoctamin 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:98,295,875...98,709,918
Ensembl chr12:101,885,088...102,111,806

G

androgen receptor

no_association

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

G

amphiregulin

CTD Direct Evidence: marker/mechanism

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

G

Rho GTPase activating protein 28

CTD Direct Evidence: marker/mechanism

NCBI chr18:7,366,986...7,548,782
Ensembl chr18:9,690,107...9,775,270

G

aryl hydrocarbon receptor nuclear translocator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629

G

BCL2 associated X, apoptosis regulator

treatment

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

G

BCL2 apoptosis regulator

treatment

protein:increased expression:endometrium

PMID:17693084 PMID:23406865 PMID:25937801

RGD:11353846 RGD:2293018 RGD:7257718

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

G

BCL2 like 1

treatment

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

G

baculoviral IAP repeat containing 5

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

G

bone morphogenetic protein 7

CTD Direct Evidence: marker/mechanism

NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021

G

bromodomain containing 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,535,321...133,557,304
Ensembl chr 5:139,652,112...139,690,468

G

complement C1r

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895

G

C-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341

G

C-C motif chemokine ligand 2

protein:increased expression:peritoneal fluid (human)

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 22

CTD Direct Evidence: marker/mechanism

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

G

C-C motif chemokine ligand 5

mRNA:increased expression:endometrium (human)

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

cyclin E2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:91,499,647...91,518,488
Ensembl chr 8:93,702,104...93,717,151

G

CD226 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr18:63,238,477...63,379,346
Ensembl chr18:66,533,949...66,627,580

G

CD36 molecule (CD36 blood group)

mRNA, protein:decreased expression:macrophage

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD55 molecule (Cromer blood group)

CTD Direct Evidence: marker/mechanism

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

G

complement factor D

CTD Direct Evidence: marker/mechanism

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248

G

cornichon family AMPA receptor auxiliary protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:199,903,319...200,243,433
Ensembl chr 1:205,092,073...205,216,665

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:86,017,141...86,044,889

G

COP9 signalosome subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:28,073,237...28,103,615
Ensembl chr15:46,396,077...46,426,396

G

carboxypeptidase M

CTD Direct Evidence: marker/mechanism

NCBI chr12:66,367,023...66,445,801
Ensembl chr12:69,147,579...69,225,283

G

colony stimulating factor 1

protein:increased expression:peritoneal fluid (human)

NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943

G

catenin beta 1

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

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

G

C-X-C motif chemokine ligand 13

CTD Direct Evidence: marker/mechanism

NCBI chr 4:46,583,759...46,589,865
Ensembl chr 4:52,428,702...52,434,803

G

C-X-C motif chemokine ligand 14

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,960,143...130,967,365
Ensembl chr 5:137,100,019...137,108,336

G

C-X-C motif chemokine ligand 8

protein:increased expression:peritoneal fluid (human)

PMID:25704572 PMID:29962266

RGD:150520017 RGD:150521547

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine ligand 9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502

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

G

cytochrome P450 family 1 subfamily A member 1

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

G

cytochrome P450 family 26 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,817,623...89,822,024
Ensembl chr10:93,330,460...93,334,105

G

dendrocyte expressed seven transmembrane protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:100,967,757...100,985,384
Ensembl chr 8:103,121,332...103,138,223

G

DEAD-box helicase 5

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,594,956...58,603,570
Ensembl chr17:63,689,082...63,696,142

G

DEPP autophagy regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:41,970,914...41,973,518
Ensembl chr10:45,151,636...45,152,280

G

dicer 1, ribonuclease III

CTD Direct Evidence: marker/mechanism

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

G

iodothyronine deiodinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:60,756,781...60,775,255

G

dickkopf WNT signaling pathway inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:48,950,704...48,953,815
Ensembl chr10:51,084,027...51,089,776

G

DNA methyltransferase 1

mRNA,protein:decreased expression:endometrium:

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

G

DNA methyltransferase 3 alpha

mRNA:increased expression:endometrium:

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

DNA methyltransferase 3 beta

mRNA:increased expression:endometrium:

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

G

dual specificity phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960

G

estrogen receptor binding site associated antigen 9

protein:decreased expression:endometrium

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

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

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

G

early growth response 1

mRNA, protein:increased expression:ovary

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

ELAV like RNA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:7,259,829...7,306,808
Ensembl chr19:8,114,849...8,147,137

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

G

ERBB receptor feedback inhibitor 1

CTD Direct Evidence: marker/mechanism

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

G

estrogen receptor 1

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

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

PMID:15618247 PMID:17625110

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

family with sequence similarity 180 member A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:127,701,469...127,721,048
Ensembl chr 7:140,202,736...140,217,950

G

fibulin 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:26,390,379...26,488,737
Ensembl chr22:44,582,843...44,666,011

G

fibrillin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

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

G

FKBP prolyl isomerase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,135,745...35,250,860
Ensembl chr 6:36,337,883...36,452,664

G

flavin containing dimethylaniline monoxygenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:146,678,858...146,704,831
Ensembl chr 1:150,393,061...150,417,295

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

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

G

forkhead box P3

severity

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

G

GC vitamin D binding protein

severity

NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073

G

growth hormone releasing hormone

mRNA:decreased expression:ovary

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

G

G protein-coupled estrogen receptor 1

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

PMID:22520060 PMID:32152908

RGD:39938861 RGD:39939083

NCBI chr 7:1,331,586...1,338,194

G

glutathione peroxidase 3

CTD Direct Evidence: marker/mechanism

PMID:20864642 PMID:21063030

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

G

growth regulating estrogen receptor binding 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:11,467,884...11,629,834
Ensembl chr2A:11,690,475...11,774,155

G

heparin binding EGF like growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

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

G

histone deacetylase 2

treatment

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

PMID:20884991 PMID:22138541

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

G

histone deacetylase 3

OMIM:131200

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

G

HECT and RLD domain containing E3 ubiquitin protein ligase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,747,400...80,795,722
Ensembl chr 4:91,470,572...91,518,177

G

heparan sulfate-glucosamine 3-sulfotransferase 3B1

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,302,663...37,351,099

G

hydroxysteroid 17-beta dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:14,760,856...14,763,584
Ensembl chr17:14,986,814...14,988,820

G

hydroxysteroid 17-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

PMID:18815356 PMID:21232532

NCBI chr16:62,642,316...62,705,261
Ensembl chr16:82,062,042...82,125,139

G

indoleamine 2,3-dioxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352

G

interferon gamma

mRNA:increased expression:colon

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interferon gamma receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053

G

insulin like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:46,538,566...46,545,536
Ensembl chr 7:46,658,097...46,662,584

G

insulin like growth factor binding protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132

G

Indian hedgehog signaling molecule

CTD Direct Evidence: marker/mechanism

NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506

G

interleukin 10

treatment

CTD Direct Evidence: marker/mechanism

PMID:21665488 PMID:30579999

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

G

interleukin 15

CTD Direct Evidence: marker/mechanism

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

G

interleukin 1 beta

ClinVar Annotator: match by term: Endometriosis

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

G

interleukin 1 family member 10

ClinVar Annotator: match by term: Endometriosis

NCBI chr2A:89,048,426...89,056,299
Ensembl chr2A:114,017,436...114,020,966

G

interleukin 1 receptor type 1

CTD Direct Evidence: marker/mechanism

PMID:20864642 PMID:21063030

Ensembl chr2A:103,193,131...103,230,005

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Endometriosis

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 32

exacerbates

protein:increased expression:plasma (human)

NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929

G

interleukin 36 alpha

ClinVar Annotator: match by term: Endometriosis

G

interleukin 36 gamma

ClinVar Annotator: match by term: Endometriosis

NCBI chr2A:89,080,711...89,293,626
Ensembl chr2A:113,953,169...113,965,648
Ensembl chr2A:113,953,169...113,965,648

G

interleukin 36 receptor antagonist

ClinVar Annotator: match by term: Endometriosis

NCBI chr2A:89,059,526...89,065,695
Ensembl chr2A:114,004,209...114,009,865

G

interleukin 7 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612

G

inositol monophosphatase 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:2,293,788...2,344,422
Ensembl chr18:4,557,280...4,608,991

G

integrin subunit alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031

G

integrin subunit beta 3 binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:62,695,675...62,779,887
Ensembl chr 1:64,506,240...64,588,657

G

integrin subunit beta 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:21,019,917...21,105,143
Ensembl chr 7:20,336,031...20,415,666

G

kinase insert domain receptor

mRNA:increased expression:endometrium

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

G

KLF transcription factor 13

CTD Direct Evidence: marker/mechanism

NCBI chr15:9,818,294...9,964,912

G

KLF transcription factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:54,387,404...54,417,095
Ensembl chr 9:69,142,283...69,170,664

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism
OMIM:131200

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

G

laminin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554

G

leiomodin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,493,627...177,543,853
Ensembl chr 1:181,798,304...181,845,295

G

cytochrome b5

CTD Direct Evidence: marker/mechanism

NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732

G

interferon-induced protein with tetratricopeptide repeats 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:86,117,807...86,129,256
Ensembl chr10:89,667,149...89,668,579

G

eotaxin

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345
Ensembl chr17:22,806,076...22,808,345

G

HLA class II histocompatibility antigen, DP beta 1 chain

CTD Direct Evidence: marker/mechanism

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

G

leucine rich repeat kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:48,343,621...48,488,337
Ensembl chr12:49,205,930...49,350,462

G

lactotransferrin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532

G

LYN proto-oncogene, Src family tyrosine kinase

mRNA:increased expression:uterus

NCBI chr 8:52,318,497...52,455,741
Ensembl chr 8:49,755,708...49,825,287

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chr X:36,106,680...36,197,907
Ensembl chr X:43,931,044...44,022,199

G

monoamine oxidase B

CTD Direct Evidence: marker/mechanism

NCBI chr X:36,217,710...36,333,516
Ensembl chr X:44,042,000...44,157,941

G

mitogen-activated protein kinase 8

mRNA:increased expression:peritoneum (human)

NCBI chr10:45,806,748...45,936,362

G

midkine

NCBI chr11:46,339,365...46,342,388
Ensembl chr11:46,891,540...46,893,254

G

mediator complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,836,350...17,883,610
Ensembl chr17:18,050,474...18,095,118

G

mediator complex subunit 14

CTD Direct Evidence: marker/mechanism

NCBI chr X:33,097,206...33,183,322
Ensembl chr X:40,798,363...40,886,270

G

mediator complex subunit 16

CTD Direct Evidence: marker/mechanism

NCBI chr19:238,822...260,277
Ensembl chr19:841,367...863,080

G

mediator complex subunit 17

CTD Direct Evidence: marker/mechanism

NCBI chr11:88,806,209...88,835,138
Ensembl chr11:92,292,947...92,321,913

G

mediator complex subunit 4

CTD Direct Evidence: marker/mechanism

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

G

matrix metallopeptidase 2

mRNA:increased expression:endometrium

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

G

matrix metallopeptidase 9

mRNA:increased expression:endometrium

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

G

metastasis associated 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:86,058,412...86,111,736

G

metastasis associated 1 family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:57,950,770...57,959,615
Ensembl chr11:61,305,373...61,324,592

G

myosin regulatory light chain interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:15,985,844...16,005,043
Ensembl chr 6:16,350,852...16,370,253

G

nuclear receptor coactivator 1

CTD Direct Evidence: marker/mechanism

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

G

nuclear receptor coactivator 6

CTD Direct Evidence: marker/mechanism

NCBI chr20:31,044,339...31,154,798
Ensembl chr20:32,170,583...32,247,167

G

nuclear receptor corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,934,452...35,121,195

G

neuron derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:113,242,800...113,283,834
Ensembl chr 4:124,386,606...124,422,793

G

NEDD4 like E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423

G

neurofilament medium chain

CTD Direct Evidence: marker/mechanism

NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468

G

NFKB inhibitor alpha

NCBI chr14:16,155,331...16,158,588

G

nuclear receptor subfamily 1 group D member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:23,857,317...23,892,533
Ensembl chr 3:24,185,798...24,215,831

G

nuclear receptor subfamily 2 group C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:92,611,459...92,664,405
Ensembl chr12:96,007,293...96,060,878

G

nuclear receptor subfamily 2 group C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242

G

nuclear receptor subfamily 2 group F member 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:75,008,879...75,021,981

G

nuclear receptor subfamily 2 group F member 6

CTD Direct Evidence: marker/mechanism

NCBI chr19:16,719,444...16,733,006

G

nuclear receptor subfamily 3 group C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269

G

nuclear receptor subfamily 3 group C member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298

G

nuclear receptor subfamily 4 group A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,703,903...36,740,211
Ensembl chr12:37,480,300...37,501,188

G

nuclear receptor subfamily 5 group A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292

G

neuropilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,298,918...33,456,466
Ensembl chr10:33,883,173...34,039,648

G

neurotrophic receptor tyrosine kinase 1

mRNA, protein:increased expression:spinal ganglia, uterus

Ensembl chr 1:136,007,476...136,047,355

G

neurotrophic receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204

G

olfactomedin 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:34,066,155...34,089,468
Ensembl chr13:52,873,289...52,896,827

G

odd-skipped related transciption factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:95,590,753...95,598,491
Ensembl chr 8:97,768,980...97,776,669

G

pappalysin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:87,287,289...87,535,414
Ensembl chr 9:115,671,212...115,883,435

G

paired box 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028

G

progesterone receptor

CTD Direct Evidence: marker/mechanism

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

RGD:1601277 RGD:7248704

NCBI chr11:95,997,677...96,098,866

G

phospholipase A2 group IIA

CTD Direct Evidence: marker/mechanism

NCBI chr 1:18,930,294...18,934,563
Ensembl chr 1:19,971,084...19,977,627

G

polo like kinase 1

mRNA, protein:increased expression

NCBI chr16:14,420,972...14,432,821
Ensembl chr16:23,928,773...23,940,779

G

plexin C1

CTD Direct Evidence: marker/mechanism

NCBI chr12:91,694,449...91,852,950
Ensembl chr12:95,093,332...95,251,249

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

G

prolactin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:75,139,852...75,321,695
Ensembl chr 5:80,532,058...80,600,403

G

prostaglandin E receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:32,910,755...32,926,138
Ensembl chr14:51,195,381...51,209,686

G

prostaglandin E receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:69,686,906...69,700,739
Ensembl chr 5:74,731,470...74,745,148

G

prostaglandin E synthase

mRNA, protein:increased expression:epithelial cell

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

G

prostaglandin F receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:77,714,164...77,762,171
Ensembl chr 1:79,794,831...79,841,467

G

prostaglandin-endoperoxide synthase 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:20056215 PMID:23406865 PMID:25446850

RGD:5135061 RGD:7257718

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

G

protein tyrosine kinase 2

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

G

protein tyrosine phosphatase non-receptor type 22

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

retinoic acid receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:24,729,220...25,499,187
Ensembl chr 3:25,660,922...25,833,297

G

RAS guanyl releasing protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:17,417,684...17,494,333
Ensembl chr15:35,675,348...35,750,315

G

RAS like family 11 member A

CTD Direct Evidence: marker/mechanism

NCBI chr13:8,559,930...8,563,339
Ensembl chr13:26,905,680...26,909,057

G

recombination signal binding protein for immunoglobulin kappa J region

CTD Direct Evidence: marker/mechanism

NCBI chr 4:20,719,548...20,835,439
Ensembl chr 4:25,995,263...26,107,683

G

regulator of G protein signaling 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:138,488,317...138,496,497
Ensembl chr 1:142,284,040...142,292,225

G

RAR related orphan receptor B

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,144,836...50,340,910
Ensembl chr 9:73,469,767...73,543,030

G

relaxin family peptide receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:150,829,896...150,973,358
Ensembl chr 4:162,648,858...162,784,422

G

secretoglobin family 3A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:175,792,429...175,797,122

G

selenoprotein P

CTD Direct Evidence: marker/mechanism

NCBI chr 5:67,570,087...67,582,192
Ensembl chr 5:72,619,607...72,627,213

G

selectin L

mRNA:increased expression:endometrium

NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393

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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

G

solute carrier family 16 member 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:62,203,733...62,227,962
Ensembl chr17:67,598,546...67,607,701

G

solute carrier family 1 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337

G

solute carrier family 20 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,394,161...89,412,141
Ensembl chr2A:113,657,901...113,679,575

G

solute carrier family 40 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993

G

solute carrier family 7 member 8

CTD Direct Evidence: marker/mechanism

NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112

G

sphingomyelin phosphodiesterase acid like 3A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:120,577,885...120,600,371
Ensembl chr 6:124,701,089...124,726,484

G

SPARC like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:79,769,085...79,825,430
Ensembl chr 4:90,498,810...90,521,665

G

serine peptidase inhibitor Kazal type 1

disease_progression

protein:increased expression:serum

NCBI chr 5:143,273,137...143,287,745

G

steroid 5 alpha-reductase 1

CTD Direct Evidence: marker/mechanism

PMID:21232532 PMID:23183084

NCBI chr 5:6,953,795...6,996,010
Ensembl chr 5:6,629,093...6,664,264

G

steroid 5 alpha-reductase 2

CTD Direct Evidence: marker/mechanism

NCBI chr2A:31,542,646...31,597,394
Ensembl chr2A:31,610,487...31,665,718

G

somatostatin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337

G

stanniocalcin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:168,668,851...168,681,274
Ensembl chr 5:175,575,419...175,587,832

G

succinate-CoA ligase GDP-forming subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:67,277,348...67,563,181
Ensembl chr 3:68,647,738...68,931,891

G

sulfatase 2

CTD Direct Evidence: marker/mechanism

PMID:20864642 PMID:21063030

NCBI chr20:43,992,927...44,122,598
Ensembl chr20:45,074,069...45,173,893

G

tumor associated calcium signal transducer 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:57,838,661...57,841,444
Ensembl chr 1:59,545,625...59,546,596

G

transgelin

CTD Direct Evidence: marker/mechanism

NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

G

thyroid hormone receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,196,459...17,226,263

G

thiol methyltransferase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr12:37,820,917...37,828,732
Ensembl chr12:38,725,645...38,731,272

G

tenascin C

CTD Direct Evidence: marker/mechanism

NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299

G

tumor necrosis factor

treatment

ClinVar Annotator: match by term: Endometriosis

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

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

G

TNF receptor superfamily member 1B

treatment

human protein in rat model

PMID:21481092 PMID:21741153

RGD:5131251 RGD:7247423

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

G

transducer of ERBB2, 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,953,343...44,957,465
Ensembl chr17:49,825,646...49,826,683

G

thyrotropin releasing hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736

G

thioredoxin interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,763,312...121,767,468

G

uronyl 2-sulfotransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:146,562,541...146,895,450
Ensembl chr 6:151,270,505...151,597,779

G

vav guanine nucleotide exchange factor 1

mRNA:increased expression:endometrium

NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351

G

vascular endothelial growth factor A

mRNA:increased expression:endometrium

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

G

vasoactive intestinal peptide

NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730

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

G

angiopoietin 2

protein:increased expression:endometrium epithelium

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

G

AT-rich interaction domain 1A

treatment

human cell in mouse model

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

G

axin 2

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

G

Bet1 golgi vesicular membrane trafficking protein like

disease_progression

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

G

CD55 molecule (Cromer blood group)

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

G

estrogen receptor binding site associated antigen 9

protein:increased expression:endometrium

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

G

forkhead box O3

severity

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

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

G

glutathione peroxidase 3

mRNA:decreased expression:endometrium (rat)

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

G

interferon regulatory factor 1

DNA:deletions (rat)

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

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

G

KRAS proto-oncogene, GTPase

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

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

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

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

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

G

programmed cell death 10

disease_progression

protein:increased expression:endometrium (human)

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

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

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

G

phosphatase and tensin homolog

ameliorates

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

G

prostaglandin E synthase

protein:increased expression:endometrium

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

G

ribonucleotide reductase regulatory subunit M2

DNA:amplification (rat)

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

G

transforming growth factor beta receptor 3

mRNA:decreased expression:endometrium

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

G

tumor protein p53

disease_progression

DNA:missense mutations
protein:increased expression:endometrium

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

G

tumor susceptibility 101

mRNA:alternative forms

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

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

G

alpha fetoprotein

severity

protein:increased expression:serum

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

G

AKT serine/threonine kinase 2

severity

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

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

G

angiogenin

protein:increased expression:serum

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

G

APC regulator of WNT signaling pathway

severity
treatment

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

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

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

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

G

apurinic/apyrimidinic endodeoxyribonuclease 1

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

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

G

androgen receptor

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

G

AT-rich interaction domain 1A

onset

protein:decreased expression:endometrium (human)

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

G

ATM serine/threonine kinase

susceptibility

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

G

BCL2 associated agonist of cell death

disease progression

protein:altered expression:endometrium (human)

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

G

BAG cochaperone 1

protein:increased expression:endometrium

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

G

BCL2 like 1

protein:increased expression:endometrium

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

G

BRCA2 DNA repair associated

DNA:deletion, frameshift mutation

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

G

bone marrow stromal cell antigen 2

treatment

protein:increased expression:endometrium:

PMID:22729361 PMID:26498112

RGD:14398492 RGD:14398498

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

G

CD59 molecule (CD59 blood group)

protein:increased expression:endometrium

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

G

CD9 molecule

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

G

cell division cycle 25B

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

G

cell division cycle 25C

DNA:mutation (human)

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

G

cadherin 1

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

G

cyclin dependent kinase inhibitor 2A

DNA:deletions:exon (rat)

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

G

cyclin dependent kinase inhibitor 2B

DNA:deletion (rat)

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

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

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

G

catechol-O-methyltransferase

susceptibility
no_association

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

PMID:12810635 PMID:15285606 PMID:17442187

RGD:2289714 RGD:2289721 RGD:2289723

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

G

cytochrome P450 family 19 subfamily A member 1

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

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

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

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

G

dihydrofolate reductase

ClinVar Annotator: match by term: MSH3-related condition

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

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

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

G

epidermal growth factor

severity

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

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

G

ERBB receptor feedback inhibitor 1

OMIM:608089

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

G

fibroblast growth factor 1

disease_progression

mRNA:increased expression:myometrium

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

G

fibroblast growth factor 2

disease_progression

mRNA, protein:increased expression:myometrium

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

G

growth hormone releasing hormone

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

PMID:10022420 PMID:15784701

RGD:2289974 RGD:2301423

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

G

homeobox B13

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

G

HtrA serine peptidase 2

protein:decreased expression:endometrium (human)

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

G

interleukin 10

protein:increased expression:serum

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

G

Janus kinase 1

severity

DNA:frameshift mutations

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

G

junction plakoglobin

protein:decreased expression:endometrium

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

G

sulfotransferase 1A1

G

lymphotoxin alpha

susceptibility

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

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

G

microcephalin 1

DNA:deletions:exons:multiple (human)

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

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial cancer

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

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

G

matrix metallopeptidase 7

disease_progression

protein:increased expression:endometrium

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

G

MRE11 homolog, double strand break repair nuclease

DNA:deletions:intron:IVS4_delT (human)

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

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

G

mutS homolog 6

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

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial cancer, somatic

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

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

G

notch receptor 1

mRNA:increased expression:endometrium

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

G

notch receptor 4

mRNA:decreased expression:endometrium

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

G

phosphoglucomutase 1

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

G

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

onset

mRNA:increased expression:endometrium (human)

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

G

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

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

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

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

G

DNA polymerase epsilon, catalytic subunit

onset
ameliorates
disease_progression

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

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

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

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

G

phosphatase and tensin homolog

OMIM:608089

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

G

RAD21 cohesin complex component

onset

DNA:CNV: (human)

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

G

ring finger protein 43

DNA:mutations:multiple: (human)

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

G

sex hormone binding globulin

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

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

G

SMAD family member 2

protein:increased expression:endometrium

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

G

SMAD family member 3

protein:increased expression:endometrium

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

G

SMAD family member 7

disease_progression

mRNA:increased expression:endometrium

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

G

suppressor of cytokine signaling 2

DNA:hypermethylated

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

G

sperm associated antigen 9

protein:increased expression:serum:

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

G

serine/threonine kinase 11

OMIM:608089

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

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

G

trefoil factor 1

mRNA, protein:increased expression:endometrium

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

G

TIMP metallopeptidase inhibitor 4

mRNA:decreased expression:endometrium

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

G

TNF receptor superfamily member 1A

protein:increased expression:serum (human)

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

G

TNF receptor superfamily member 1B

protein:increased expression:serum (human)

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

G

tumor protein p53

OMIM:608089

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

G

thymidine phosphorylase

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

G

WT1 transcription factor

disease_progression

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

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

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

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

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

aurora kinase A

mRNA, protein:increased expression:endometrium

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

G

aurora kinase B

disease_progression

mRNA, protein:increased expression:endometrium

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

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

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

BRICHOS domain containing 5

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

basigin (Ok blood group)

disease_progression

protein:increased expression:endometrium

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

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

CASK interacting protein 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

cyclin B1

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

G

CD82 molecule

disease_progression

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

G

cadherin 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

cadherin 13

disease_progression

DNA:hypomethylation

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

G

checkpoint kinase 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

dihydrofolate reductase

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

deoxyribonuclease 1 like 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

E4F transcription factor 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

enoyl-CoA delta isomerase 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

endoplasmic reticulum aminopeptidase 1

disease_progression

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

G

fibroblast growth factor 7

mRNA:decreased expression:endometrium

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

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

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

growth factor receptor bound protein 2

severity

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

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

G

glycogen synthase kinase 3 beta

severity

protein:increased expression:endometrium (human)

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

G

histone deacetylase 3

disease_progression

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

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

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

G

KiSS-1 metastasis suppressor

disease_progression

mRNA:decreased expression:endometrium

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

ras-related protein Rab-26

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

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

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

G

mutL homolog 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mutL homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

MTOR associated protein, LST8 homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

matrix metallopeptidase 8

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

G

matrix metallopeptidase 9

disease_progression

protein:increased expression:endometrium

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

G

mutS homolog 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mutS homolog 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mutS homolog 6

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

nuclear receptor coactivator 1

mRNA:increased expression:endometrium

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

G

nuclear receptor corepressor 2

mRNA:increased expression:endometrium

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

G

nitric oxide synthase 3

disease_progression

protein:increased expression:endometrium

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

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

G

phosphoglycolate phosphatase

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

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

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

phosphoinositide-3-kinase regulatory subunit 1

DNA:mutations:multiple (human)

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

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

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

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

protein kinase C alpha

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

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

prostaglandin-endoperoxide synthase 1

disease_progression

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

G

protein tyrosine kinase 2

severity

protein:increased expression:endometrium

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

G

RAD51 paralog C

ClinVar Annotator: match by term: Endometrial carcinoma

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

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

G

Ras association domain family member 1

DNA, protein:hypermethylation, decreased expression:promoter,

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

G

RNA binding protein with serine rich domain 1

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

RUNX family transcription factor 3

DNA:promoter:hypermethylated

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

G

stratifin

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

G

SMAD family member 4

severity

mRNA:decreased expression:endometrium
DNA:substitutions:promoter

PMID:10331746 PMID:15385128

RGD:2299966 RGD:2300009

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

G

secreted protein acidic and cysteine rich

DNA, mRNA, protein:hypermethylation, altered expression

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

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Endometrial carcinoma

PMID:25741868 PMID:26467025 PMID:28492532

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

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

testin LIM domain protein

severity
exacerbates

NCBI chr 7:108,176,519...108,224,816
Ensembl chr 7:120,873,762...120,922,333

G

trefoil factor 1

disease_progression

protein:increased expression:endometrium

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

G

TIMP metallopeptidase inhibitor 1

disease_progression

protein:increased expression:endometrium

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

G

TIMP metallopeptidase inhibitor 2

disease_progression

mRNA:decreased expression:endometrium

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

G

TIMP metallopeptidase inhibitor 4

disease_progression

protein:increased expression:endometrium

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

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

G

TNF receptor associated factor 7

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

TSC complex subunit 2

ClinVar Annotator: match by term: Endometrial carcinoma

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

G

Wnt family member 2

mRNA:decreased expression:endometrium

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

G

Wnt family member 3

mRNA:decreased expression:tumor:vs normal endometrium

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

G

Wnt family member 4

mRNA:decreased expression:tumor:vs normal endometrium

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

G

Wnt family member 5A

mRNA:decreased expression:tumor:vs normal endometrium

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

endometrial serous adenocarcinoma

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

G

BRCA2 DNA repair associated

susceptibility

DNA:deletion: :6174delT

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

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

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

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

G

amphiregulin

mRNA, protein:increased expression:endometrium

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

G

ATPase copper transporting beta

disease_progression

protein:increased expression:endometrium

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

G

baculoviral IAP repeat containing 5

protein:increased expression:endometrium

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

G

bone morphogenetic protein 4

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

G

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

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

G

cyclin E1

protein:increased expression:endometrium

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

G

cadherin 1

protein:decreased expression:endometrium

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

G

cyclin dependent kinase 2

severity

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

G

cyclin dependent kinase inhibitor 1B

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

G

checkpoint kinase 2

susceptibility

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

G

catenin beta 1

DNA:mutations

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

G

death domain associated protein

protein:increased expression:ovary:

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

G

DNA methyltransferase 1

mRNA,protein:increased expression:uterus:

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

G

DNA methyltransferase 3 beta

mRNA,protein:increased expression:uterus:

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

G

epidermal growth factor receptor

mRNA:decreased expression:endometrium

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

G

enolase 2

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

G

erb-b2 receptor tyrosine kinase 2

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

G

erb-b2 receptor tyrosine kinase 3

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

G

erb-b2 receptor tyrosine kinase 4

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

G

estrogen receptor 1

severity

protein:increased phosphorylation

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

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

G

insulin like growth factor binding protein 3

disease_progression

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

G

inhibin subunit alpha

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

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

G

inhibin subunit beta A

protein:decreased expression:endometrium

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

G

kinase insert domain receptor

severity

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

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

G

KRAS proto-oncogene, GTPase

associated with Ovarian Neoplasms

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

G

leucyl and cystinyl aminopeptidase

associated with Endometrial Neoplasms

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

G

mitogen-activated protein kinase 1

treatment

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

G

mitogen-activated protein kinase 3

treatment

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

G

mesothelin

CTD Direct Evidence: marker/mechanism

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

G

NK2 homeobox 1

DNA:hypermethylation

G

platelet derived growth factor receptor alpha

protein:decreased expression:ovary

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

G

platelet derived growth factor receptor beta

protein:increased expression:ovary

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

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

G

phosphatase and tensin homolog

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

PMID:11156411 PMID:17418409

RGD:12802357 RGD:2289817

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

G

secreted phosphoprotein 1

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

G

ST14 transmembrane serine protease matriptase

associated with Ovarian Neoplasms;protein:increased expression:ovary

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

G

WNT inhibitory factor 1

mRNA:increased expression:ovary

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

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 chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981

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:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187

G

DNA methyltransferase 1

protein:increased expression:ectopic endometrium:

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

G

DNA methyltransferase 3 alpha

protein:decreased expression:endometrium:

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

DNA methyltransferase 3 beta

protein:increased expression:ectopic endometrium:

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

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

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Gestational trophoblastic neoplasia

PMID:21948117 PMID:25741868

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

G

POU class 5 homeobox 1

CTD Direct Evidence: marker/mechanism

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

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 chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300

G

elongation factor Tu GTP binding domain containing 2

protein:increased expression:trophoblast, decidua:

NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147

G

KH domain containing 3 like, subcortical maternal complex member

ClinVar Annotator: match by term: Hydatidiform mole

NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826

G

mutL homolog 1

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

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

G

matrix metallopeptidase 2

protein:increased expression:syncytiotrophoblast cell

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

G

mutS homolog 2

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

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

G

natural cytotoxicity triggering receptor 1

ClinVar Annotator: match by term: Hydatidiform mole

PMID:24033266 PMID:25741868

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

G

NLR family pyrin domain containing 7

ClinVar Annotator: match by term: Hydatidiform mole

PMID:19246479 PMID:24033266 PMID:25741868

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

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

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

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

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

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

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 chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826

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 chr22:22,592,508...22,692,370
Ensembl chr22:40,678,001...40,777,076

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

Ensembl chr11:65,427,937...65,522,087

Term paths to the root

Path 1
Term	Annotations
disease	15835
disease of anatomical entity	15491
reproductive system disease	3128
female reproductive system disease	2135
endometriosis	377
endometrial cancer +	192
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	15835
disease of anatomical entity	15491
Urogenital Diseases	4921
Female Urogenital Diseases and Pregnancy Complications	2583
Female Urogenital Diseases	2138
female reproductive system disease	2135
endometriosis	377
endometrial cancer +	192
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