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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:endometrial cancer
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Accession:DOID:1380 term browser browse the term
Definition:A uterine cancer that is located_in tissues lining the uterus. (DO)
Synonyms:exact_synonym: cancer of endometrium;   cancer of the endometrium;   endometrial Ca;   endometrial cancers;   endometrial neoplasm;   endometrium cancer;   endometrium cancers;   malignant endometrial neoplasm;   malignant neoplasm of endometrium;   neoplasm of endometrium;   primary malignant neoplasm of endometrium;   tumor of endometrium
 narrow_synonym: endometrial cancer, somatic
 broad_synonym: MSH3-RELATED CONDITION
 primary_id: MIM:608089
 xref: EFO:0004230;   GARD:11981;   ICD10CM:C54.1;   NCI:C27815;   NCI:C3012
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
endometrial cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 susceptibility ISO associated with Obesity;DNA:polymorphism: :p.W64R (human) RGD PMID:15743038 RGD:2313164 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521 		JBrowse link
G AFP alpha fetoprotein severity ISO protein:increased expression:serum RGD PMID:17659325 RGD:2292039 NCBI chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 severity ISO DNA:snp:intron:c.287+993G>A (rs892119) (human) RGD PMID:22146979 RGD:13432140 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131 		JBrowse link
G APC APC regulator of WNT signaling pathway treatment
severity		 ISO human cells in a mouse model
protein:increased expression:endometrium (human)
DNA:mutations, haplotype:cds:multiple (human)
with Pten knockout		 RGD PMID:15951972 PMID:22907428 PMID:23288720 PMID:29876005 RGD:13524585 RGD:13524624 RGD:13673916 RGD:13673917 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) RGD PMID:11465542 RGD:2315878 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422 		JBrowse link
G AR androgen receptor ISO RGD PMID:15721279 RGD:1578689 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912 		JBrowse link
G ARID1A AT-rich interaction domain 1A onset ISO protein:decreased expression:endometrium (human) RGD PMID:23887303 RGD:126779522 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G BAD BCL2 associated agonist of cell death disease progression ISO protein:altered expression:endometrium (human) RGD PMID:24645842 RGD:13432164 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405 		JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 treatment ISO protein:increased expression:endometrium: RGD PMID:22729361 PMID:26498112 RGD:14398492 RGD:14398498 NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178 		JBrowse link
G CD59 CD59 molecule ISO protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329 		JBrowse link
G CD9 CD9 molecule ISO RGD PMID:11505398 RGD:2326208 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576 		JBrowse link
G CDC25B cell division cycle 25B ISO RGD PMID:14559803 RGD:4105451 NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759 		JBrowse link
G CDC25C cell division cycle 25C ISO DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744 		JBrowse link
G CDH1 cadherin 1 ISO OMIM NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:deletions:exon (rat) RGD PMID:18558284 RGD:2316081 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427 		JBrowse link
G COMT catechol-O-methyltransferase susceptibility
no_association		 ISO DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter		 RGD PMID:12810635 PMID:15285606 PMID:17442187 RGD:2289714 RGD:2289721 RGD:2289723 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) RGD PMID:18497059 RGD:2301045 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO 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) RGD PMID:18318428 RGD:2301040 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) RGD PMID:18497059 RGD:2301045 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135 		JBrowse link
G DHFR dihydrofolate reductase ISO ClinVar Annotator: match by term: MSH3-related condition ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29641532 PMID:36652909 NCBI chr 3:26,521,214...26,556,065 JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates
ameliorates		 ISO protein:decreased expression:endometrium (human)
human EFEMP2 knockdown cell line in a mouse model		 RGD PMID:28177909 RGD:42722012 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107 		JBrowse link
G EGF epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO OMIM:608089 MouseDO NCBI chr 5:61,621,964...61,636,152
Ensembl chr 5:61,622,550...61,636,148 		JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619 		JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G GHRH growth hormone releasing hormone ISO mRNA:increased expression:tumor:expression in 17/22 specimens RGD PMID:10022420 PMID:15784701 RGD:2289974 RGD:2301423 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712 		JBrowse link
G HOXB13 homeobox B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399 		JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G JAK1 Janus kinase 1 severity ISO DNA:frameshift mutations RGD PMID:29121062 RGD:150524355 NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G LOC482182 sulfotransferase 1E1 ISO DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT) RGD PMID:18318428 RGD:2301040 NCBI chr13:59,323,430...59,343,745 JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		JBrowse link
G MCPH1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr16:58,306,761...58,529,090
Ensembl chr16:58,295,280...58,529,433 		JBrowse link
G MIR21 microRNA mir-21 ISO miRNA:increased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Endometrial cancer ClinVar
OMIM		 PMID:12702580 PMID:28195393 PMID:28492532 PMID:31297992 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102 		JBrowse link
G MMP7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:deletions:intron:IVS4_delT (human) RGD PMID:15048091 RGD:2317737 NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119 		JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: MSH3-related condition OMIM
ClinVar		 PMID:2635641 PMID:8782829 PMID:11470537 PMID:20981092 PMID:21128252 More... NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521 		JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 PMID:15635083 More... NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539 		JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO RGD PMID:508567 RGD:2299870 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta onset ISO mRNA:increased expression:endometrium (human) RGD PMID:28002804 RGD:13674181 NCBI chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:21478295 RGD:13441595 NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit onset
disease_progression
ameliorates		 ISO DNA:polymorphisms:multiple (human)
protein:increased expression:endometrium (human)
DNA:missense mutations:CDS:p.P286R, p.V411L (human)
DNA:missense mutations:multiple (human)		 RGD PMID:25224212 PMID:29559562 PMID:29659608 PMID:31866764 RGD:151347644 RGD:151347645 RGD:151347650 RGD:151347857 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917 		JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:608089 MouseDO NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G RAD21 RAD21 cohesin complex component onset ISO DNA:CNV: (human) RGD PMID:25546926 RGD:329322876 NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035 		JBrowse link
G RNF43 ring finger protein 43 ISO DNA:mutations:multiple: (human) RGD PMID:25344691 RGD:151361224 NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:decreased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G SHBG sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624 		JBrowse link
G SMAD2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983 		JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337 		JBrowse link
G SMAD7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749 		JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr15:33,761,434...33,788,973
Ensembl chr15:33,785,545...33,877,869 		JBrowse link
G SPAG9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr 9:26,820,381...26,966,315
Ensembl chr 9:26,820,002...26,966,300 		JBrowse link
G STK11 serine/threonine kinase 11 ISO OMIM:608089 RGD
MouseDO		 PMID:18245476 RGD:2291944 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO RGD PMID:16985250 RGD:1581436 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489 		JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		JBrowse link
G TP53 tumor protein p53 ISO OMIM:608089 MouseDO NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G WT1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
endometrial adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT1 angiopoietin 1 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701 		JBrowse link
G ARID1A AT-rich interaction domain 1A treatment ISO human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G AXIN2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299 		JBrowse link
G CD55 CD55 molecule ISO RGD PMID:11506079 RGD:2326173 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226 		JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501 		JBrowse link
G FOXO3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit no_association ISO protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade RGD PMID:10684716 RGD:2290482 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) RGD PMID:10775052 RGD:1600499 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO protein:decreased phosphorylation:endometrium (human)
human tumor in a mouse model		 RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)		 RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G PDCD10 programmed cell death 10 disease_progression ISO protein:increased expression:endometrium (human) RGD PMID:32186778 RGD:401827111 NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr 6:57,025,096...57,220,240
Ensembl chr 6:57,025,112...57,217,121 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:missense mutations
protein:increased expression:endometrium		 RGD PMID:1540970 RGD:2290541 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808 		JBrowse link
endometrial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		JBrowse link
G APC APC regulator of WNT signaling pathway onset ISO DNA:hypermethylation:promoter: (human)
ClinVar Annotator: match by term: Endometrial carcinoma		 RGD
ClinVar		 PMID:19900189 PMID:25741868 PMID:28492532 PMID:32885271 RGD:13524625 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 NCBI chr 8:47,798,946...47,819,364
Ensembl chr 8:47,801,895...47,819,318 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:133608 PMID:1300551 PMID:8845835 PMID:8968760 PMID:10425038 More... NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G AURKA aurora kinase A ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791 		JBrowse link
G AURKB aurora kinase B disease_progression ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20077502 PMID:21344236 PMID:25330149 PMID:25741868 PMID:25980754 More... NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7545954 PMID:7581445 PMID:7837387 PMID:7894492 PMID:8531967 More... NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8075631 PMID:8524414 PMID:8673091 PMID:8673092 PMID:8758903 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,760,164...38,761,718
Ensembl chr 6:38,758,254...38,761,735 		JBrowse link
G BSG basigin disease_progression ISO protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061 		JBrowse link
G C5H11orf65 chromosome 5 C11orf65 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25085752 More... NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,776,710...38,788,253
Ensembl chr 6:38,776,710...38,786,727 		JBrowse link
G CCNB1 cyclin B1 ISO RGD PMID:17483252 RGD:2289230 NCBI chr 2:54,256,957...54,264,749 JBrowse link
G CD82 CD82 molecule disease_progression ISO RGD PMID:12684410 RGD:2289403 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768 		JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDH13 cadherin 13 disease_progression ISO DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:9536098 PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G DHFR dihydrofolate reductase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:9536098 PMID:17576681 PMID:20154325 PMID:25741868 PMID:26467025 More... NCBI chr 3:26,521,214...26,556,065 JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,743,346...38,752,427
Ensembl chr 6:38,743,355...38,752,403 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,729,729...38,738,357
Ensembl chr 6:38,730,219...38,738,219 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 disease_progression ISO RGD PMID:15741767 RGD:2315693 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7719344 PMID:8651276 PMID:8696350 PMID:9002682 PMID:9462761 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G GRB2 growth factor receptor bound protein 2 severity ISO Shc-Grb2 complex;protein:increased expression:serum (human) RGD PMID:22459351 RGD:13441552 NCBI chr 9:5,108,128...5,182,091
Ensembl chr 9:5,117,164...5,180,296 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta severity ISO protein:increased expression:endometrium (human) RGD PMID:27050373 RGD:13524565 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666 		JBrowse link
G HDAC3 histone deacetylase 3 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682 		JBrowse link
G HRAS HRas proto-oncogene, GTPase disease_progression ISO protein:increased expression:endometrial stroma, cytoplasm (human)
DNA:snps:cds: (human)		 RGD PMID:8960147 PMID:9641239 RGD:13441555 RGD:13781876 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027) RGD PMID:15800680 RGD:2290481 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KISS1 KiSS-1 metastasis suppressor disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:15949424 RGD:2302170 NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16051643 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LOC119872409 small nucleolar RNA SNORD60 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G MAPK1 mitogen-activated protein kinase 1 severity ISO protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)		 RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 severity ISO protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)		 RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MIR152 microRNA mir-152 ISO DNA:hypermethylation RGD PMID:21327300 RGD:21066329 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1756143 PMID:7728749 PMID:8566964 PMID:8571956 PMID:8574961 More... NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 More... NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,759,713...38,765,556
Ensembl chr 6:38,762,103...38,765,488 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO RGD PMID:10502722 RGD:2306086 NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1586275 PMID:7585065 PMID:8640829 PMID:9222765 PMID:9536098 More... NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:2635641 PMID:8782829 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:183784 PMID:183865 PMID:216699 PMID:503524 PMID:580154 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:11818965 PMID:12606733 PMID:15987719 PMID:16140997 PMID:16338133 More... NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr17:18,880,676...19,124,300
Ensembl chr17:18,880,383...19,122,258 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr26:5,352,670...5,493,741
Ensembl chr26:5,331,459...5,493,830 		JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:9276029 RGD:2292090 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:17200668 PMID:20091115 PMID:21285249 PMID:21365267 PMID:22241545 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:23636398 RGD:13628733 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 More... NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12376507 PMID:17145065 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:11371124 RGD:2292462 NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1945792 PMID:7728760 PMID:8980400 PMID:9259288 PMID:9326929 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTK2 protein tyrosine kinase 2 severity ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,806,750...38,812,541
Ensembl chr 6:38,807,487...38,812,379 		JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20400964 PMID:21990120 PMID:24800917 PMID:25741868 PMID:26681312 More... NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,719,713...38,729,437
Ensembl chr 6:38,719,792...38,728,773 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:promoter:hypermethylated RGD PMID:18572225 RGD:2302555
G SFN stratifin ISO RGD PMID:16271083 RGD:2299931 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537 		JBrowse link
G SMAD4 SMAD family member 4 severity ISO DNA:substitutions:promoter
mRNA:decreased expression:endometrium		 RGD PMID:10331746 PMID:15385128 RGD:2299966 RGD:2300009 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024 		JBrowse link
G TFF1 trefoil factor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089 		JBrowse link
G TP53 tumor protein p53 severity ISO protein:increased expression:epithelial cell, endometrium
ClinVar Annotator: match by term: Endometrial carcinoma		 RGD
ClinVar		 PMID:18431720 PMID:25741868 PMID:28492532 RGD:2298525 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		JBrowse link
G WNT2 Wnt family member 2 ISO mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr14:56,123,735...56,172,113
Ensembl chr14:56,129,248...56,172,069 		JBrowse link
G WNT4 Wnt family member 4 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111 		JBrowse link
G WNT5A Wnt family member 5A ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr20:34,756,430...34,790,937
Ensembl chr20:34,769,930...34,786,673 		JBrowse link
endometrial serous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma ClinVar NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Papillary carcinoma of the corpus uteri ClinVar PMID:18269114 PMID:21642682 PMID:24362816 PMID:25741868 PMID:28492532 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
endometrial stromal sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:tumor:increased in 6/8 (75%) of tumors RGD PMID:17367465 RGD:2292170 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
Endometrioid Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO mRNA, protein:decreased expression:endometrium (human) RGD PMID:18570730 RGD:13432144 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G AREG amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738 		JBrowse link
G ATP7B ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649 		JBrowse link
G CDH1 cadherin 1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDK2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G DAXX death domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:22885469 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G ENO2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G ESR1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G INHA inhibin subunit alpha ISO protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue RGD PMID:17143484 RGD:2290368 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794 		JBrowse link
G KDR kinase insert domain receptor severity ISO protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) RGD PMID:16557278 RGD:2291929 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183 		JBrowse link
G LOC611363 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 6:39,827,985...39,834,945 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO DNA:hypermethylation RGD PMID:17504987 RGD:2290483
G PDGFRA platelet derived growth factor receptor alpha ISO protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:21984976 PMID:25741868 NCBI chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ameliorates ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Endometrioid adenocarcinoma		 RGD
ClinVar		 PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More... RGD:151347648 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917 		JBrowse link
G PTEN phosphatase and tensin homolog ISO DNA:loss of heterozygosity, mutations:multiple (human)
DNA:mutations: :multiple		 RGD PMID:11156411 PMID:17418409 RGD:12802357 RGD:2289817 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO associated with Ovarian Neoplasms;protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859 		JBrowse link
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631
Hydatidiform Mole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CGA glycoprotein hormones, alpha polypeptide ISO protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570 		JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:25741868 NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943 		JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
Hydatidiform Mole, Invasive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH2 mutS homolog 2 ISO protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 OMIM
ClinVar		 PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943 		JBrowse link
Hydatidiform Mole, Recurrent, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEI1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816 		JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15722
    disease of anatomical entity 15368
      reproductive system disease 3086
        female reproductive system disease 2110
          endometriosis 373
            endometrial cancer 193
              endometrial carcinoma + 129
              endometrial stromal tumor + 1
              gestational trophoblastic neoplasm + 11
              vaginal endometrial stromal sarcoma 0
Path 2
Term Annotations click to browse term
  disease 15722
    disease of anatomical entity 15368
      Urogenital Diseases 4894
        Female Urogenital Diseases and Pregnancy Complications 2576
          Female Urogenital Diseases 2113
            female reproductive system disease 2110
              Female Genital Neoplasms 984
                female reproductive organ cancer 794
                  uterine cancer 307
                    endometrial cancer 193
                      endometrial carcinoma + 129
                      endometrial stromal tumor + 1
                      gestational trophoblastic neoplasm + 11
                      vaginal endometrial stromal sarcoma 0
paths to the root