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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: OMIM:608089
 xref: 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 chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949 		JBrowse link
G AFP alpha fetoprotein severity ISO protein:increased expression:serum RGD PMID:17659325 RGD:2292039 NCBI chr 4:50,739,197...50,758,459
Ensembl chr 4:56,571,519...56,590,391 		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 chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271 		JBrowse link
G ANG angiogenin ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393 		JBrowse link
G APC APC regulator of WNT signaling pathway severity
treatment		 ISO protein:increased expression:endometrium (human)
DNA:mutations, haplotype:cds:multiple (human)
human cells in a mouse model
with Pten knockout		 RGD 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 		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 chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542 		JBrowse link
G AR androgen receptor ISO RGD PMID:15721279 RGD:1578689 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G ARID1A AT-rich interaction domain 1A onset ISO protein:decreased expression:endometrium (human) RGD PMID:23887303 RGD:126779522 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G BAD BCL2 associated agonist of cell death disease progression ISO protein:altered expression:endometrium (human) RGD PMID:24645842 RGD:13432164 NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257 		JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332 		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 chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) ISO protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157 		JBrowse link
G CD9 CD9 molecule ISO RGD PMID:11505398 RGD:2326208 NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385 		JBrowse link
G CDC25B cell division cycle 25B ISO RGD PMID:14559803 RGD:4105451 NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179 		JBrowse link
G CDC25C cell division cycle 25C ISO DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698 		JBrowse link
G CDH1 cadherin 1 ISO OMIM NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:deletions:exon (rat) RGD PMID:18558284 RGD:2316081 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229 		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 chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387 		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 chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554 		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 chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636 		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 chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447 		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 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003 		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 chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950 		JBrowse link
G EGF epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO OMIM:608089 MouseDO NCBI chr 1:6,771,619...6,786,217
Ensembl chr 1:8,011,848...8,033,674 		JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001 		JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		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 chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240 		JBrowse link
G HOXB13 homeobox B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152 		JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G JAK1 Janus kinase 1 severity ISO DNA:frameshift mutations RGD PMID:29121062 RGD:150524355 NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479 		JBrowse link
G LOC100969764 sulfotransferase 1A1 ISO RGD PMID:16985250 RGD:1581436
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375 		JBrowse link
G MCPH1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394 		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 chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749 		JBrowse link
G MMP7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:deletions:intron:IVS4_delT (human) RGD PMID:15048091 RGD:2317737 NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		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:21153778 More... NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469 		JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		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 chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645 		JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO RGD PMID:508567 RGD:2299870 NCBI chr 1:62,849,451...62,916,359
Ensembl chr 1:64,658,599...64,725,496 		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 chr 3:135,685,120...135,867,096
Ensembl chr 3:143,288,563...143,431,314 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:21478295 RGD:13441595 NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit onset
ameliorates
disease_progression		 ISO DNA:polymorphisms:multiple (human)
DNA:missense mutations:multiple (human)
protein:increased expression:endometrium (human)
DNA:missense mutations:CDS:p.P286R, p.V411L (human)		 RGD 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 		JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:608089 MouseDO NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G RAD21 RAD21 cohesin complex component onset ISO DNA:CNV: (human) RGD PMID:25546926 RGD:329322876 NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421 		JBrowse link
G RNF43 ring finger protein 43 ISO DNA:mutations:multiple: (human) RGD PMID:25344691 RGD:151361224 NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748 		JBrowse link
G SHBG sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552 		JBrowse link
G SMAD2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530 		JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185 		JBrowse link
G SMAD7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr18:42,306,324...42,337,214 JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748 		JBrowse link
G SPAG9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr17:45,053,292...45,211,488
Ensembl chr17:49,924,650...50,081,918 		JBrowse link
G STK11 serine/threonine kinase 11 ISO OMIM:608089 RGD
MouseDO		 PMID:18245476 RGD:2291944 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G SULT1E1 sulfotransferase family 1E member 1 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 chr 4:54,377,681...54,396,619
Ensembl chr 4:60,713,392...60,733,229 		JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646 		JBrowse link
G TP53 tumor protein p53 ISO OMIM:608089 MouseDO NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TYMP thymidine phosphorylase ISO RGD PMID:18348659 RGD:2293715 NCBI chr22:30,772,088...30,776,618 JBrowse link
G WT1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		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 chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G ARID1A AT-rich interaction domain 1A treatment ISO human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G AXIN2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO RGD PMID:11506079 RGD:2326173 NCBI chr 1:182,923,369...182,962,518
Ensembl chr 1:187,201,081...187,240,350 		JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr 8:106,190,208...106,216,402
Ensembl chr 8:108,335,590...108,361,475 		JBrowse link
G FOXO3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr 5:146,447,939...146,456,476 JBrowse link
G IRF1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035 		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 1:58,042,794...58,045,536 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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		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 chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335 		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 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G PDCD10 programmed cell death 10 disease_progression ISO protein:increased expression:endometrium (human) RGD PMID:32186778 RGD:401827111 NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr 1:94,337,275...94,539,229
Ensembl chr 1:93,080,452...93,285,587 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:missense mutations
protein:increased expression:endometrium		 RGD PMID:1540970 RGD:2290541 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr11:18,518,110...18,564,814
Ensembl chr11:18,189,868...18,248,149 		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 chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427 		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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		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 chr14:55,213,600...55,265,198
Ensembl chr14:74,060,653...74,112,165 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G AURKA aurora kinase A ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339 		JBrowse link
G AURKB aurora kinase B disease_progression ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129 		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 chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		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 chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815 		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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995 		JBrowse link
G BSG basigin (Ok blood group) disease_progression ISO protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 Ensembl chr19:539,815...551,456 JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25741868 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,035,826...1,055,005 JBrowse link
G CCNB1 cyclin B1 ISO RGD PMID:17483252 RGD:2289230 NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332 		JBrowse link
G CD82 CD82 molecule disease_progression ISO RGD PMID:12684410 RGD:2289403 NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876 		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 chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CDH13 cadherin 13 disease_progression ISO DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996 		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 chr22:9,757,038...9,811,171 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 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,097,165...1,108,726
Ensembl chr16:2,339,864...2,351,385 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 disease_progression ISO RGD PMID:15741767 RGD:2315693 NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163 		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 chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		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 chr17:69,265,307...69,352,835
Ensembl chr17:74,817,471...74,903,796 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta severity ISO protein:increased expression:endometrium (human) RGD PMID:27050373 RGD:13524565 NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771 		JBrowse link
G HDAC3 histone deacetylase 3 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322 		JBrowse link
G HRAS HRas proto-oncogene, GTPase disease_progression ISO DNA:snps:cds: (human)
protein:increased expression:endometrial stroma, cytoplasm (human)		 RGD PMID:8960147 PMID:9641239 RGD:13441555 RGD:13781876 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		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 1:58,042,794...58,045,536 JBrowse link
G KISS1 KiSS-1 metastasis suppressor disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:15949424 RGD:2302170
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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LOC100977490 ras-related protein Rab-26 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,006,847...1,012,263 JBrowse link
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 chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335 		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 Ensembl chr16:30,489,362...30,498,017 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 chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801 		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 chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO RGD PMID:10502722 RGD:2306086 NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		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 chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		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 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469 		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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:11818965 PMID:12606733 PMID:16140997 PMID:16338133 PMID:16492921 More... NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr2A:24,485,068...24,764,135
Ensembl chr2A:24,733,117...24,859,488 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr12:121,913,368...122,155,031
Ensembl chr12:126,201,779...126,372,745 		JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:9276029 RGD:2292090 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,070,291...1,073,123 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:23636398 RGD:13628733 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:604,366...605,560 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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984 		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 chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611 		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 chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:11371124 RGD:2292462 NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903 		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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283 		JBrowse link
G PTK2 protein tyrosine kinase 2 severity ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898 		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 chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,110,249...1,124,975 JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:promoter:hypermethylated RGD PMID:18572225 RGD:2302555 NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335 		JBrowse link
G SFN stratifin ISO RGD PMID:16271083 RGD:2299931 NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580 		JBrowse link
G SMAD4 SMAD family member 4 severity ISO mRNA:decreased expression:endometrium
DNA:substitutions:promoter		 RGD PMID:10331746 PMID:15385128 RGD:2299966 RGD:2300009 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019 		JBrowse link
G TFF1 trefoil factor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192 		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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G WNT2 Wnt family member 2 ISO mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862 		JBrowse link
G WNT3 Wnt family member 3 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr17:10,685,160...10,741,402
Ensembl chr17:10,862,310...10,918,865 		JBrowse link
G WNT4 Wnt family member 4 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801 		JBrowse link
G WNT5A Wnt family member 5A ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 3:55,396,279...55,418,579
Ensembl chr 3:56,621,380...56,638,051 		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: Endometrial serous adenocarcinoma ClinVar NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332 		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 chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473 		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 chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO mRNA, protein:decreased expression:endometrium (human) RGD PMID:18570730 RGD:13432144 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G AREG amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142 		JBrowse link
G ATP7B ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295 		JBrowse link
G CDH1 cadherin 1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CDK2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541 		JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr22:9,757,038...9,811,171 JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G DAXX death domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487 		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 chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G ENO2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006 		JBrowse link
G ESR1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		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 chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr 7:46,564,234...46,573,145 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 chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386 		JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097 		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 chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MSLN mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 Ensembl chr16:777,146...783,449 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 chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		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 chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177 		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 chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650 		JBrowse link
G PTEN phosphatase and tensin homolog ISO DNA:mutations: :multiple
DNA:loss of heterozygosity, mutations:multiple (human)		 RGD PMID:11156411 PMID:17418409 RGD:12802357 RGD:2289817 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO associated with Ovarian Neoplasms;protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807 		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 PMID:25741868 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 PMID:25741868 NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426 		JBrowse link
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 chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147 		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 chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826 		JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr19:51,966,886...51,990,971
Ensembl chr19:60,662,184...60,677,844 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		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 chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		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 chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 OMIM
ClinVar		 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 		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 chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826 		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 chr22:22,592,508...22,692,370
Ensembl chr22:40,678,001...40,777,076 		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 Ensembl chr11:65,427,937...65,522,087 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      reproductive system disease 2916
        female reproductive system disease 1914
          endometriosis 378
            endometrial cancer 193
              endometrial carcinoma + 128
              endometrial stromal tumor + 1
              gestational trophoblastic neoplasm + 12
              vaginal endometrial stromal sarcoma 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4727
        Female Urogenital Diseases and Pregnancy Complications 2329
          Female Urogenital Diseases 1917
            female reproductive system disease 1914
              Female Genital Neoplasms 815
                female reproductive organ cancer 612
                  uterine cancer 305
                    endometrial cancer 193
                      endometrial carcinoma + 128
                      endometrial stromal tumor + 1
                      gestational trophoblastic neoplasm + 12
                      vaginal endometrial stromal sarcoma 0
paths to the root