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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 disease
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Accession:DOID:1005 term browser browse the term
Definition:A uterine disease that is located_in the endometrium. (DO)
Synonyms:exact_synonym: endometrial diseases
 xref: NCI:C3504
For additional species annotation, visit the Alliance of Genome Resources.

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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 8:102,020,346...102,268,443 JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729 		JBrowse link
G ARID1A AT-rich interaction domain 1A treatment ISO human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G AXIN2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chr 1:14,423...18,444
Ensembl chr 1:15,562...17,569 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO RGD PMID:11506079 RGD:2326173 NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173 		JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr 8:104,240,197...104,266,768
Ensembl chr 8:104,251,418...104,264,703 		JBrowse link
G FOXO3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr23:53,576,950...53,585,321 JBrowse link
G IRF1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr23:35,309,058...35,317,765
Ensembl chr23:35,307,772...35,316,763 		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 chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546 		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 chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		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 chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325 		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 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461 		JBrowse link
G PDCD10 programmed cell death 10 disease_progression ISO protein:increased expression:endometrium (human) RGD PMID:32186778 RGD:401827111 NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519 		JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr12:8,393,462...8,408,441
Ensembl chr12:8,393,550...8,408,435 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr14:97,512,690...97,519,734
Ensembl chr14:97,512,832...97,521,932 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr20:41,353,182...41,565,357
Ensembl chr20:41,353,325...41,565,343 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:missense mutations
protein:increased expression:endometrium		 RGD PMID:1540970 RGD:2290541 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr 1:46,401,889...46,451,122
Ensembl chr 1:46,402,024...46,450,916 		JBrowse link
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 8:35,993,553...35,998,200
Ensembl chr 8:35,994,775...35,997,060 		JBrowse link
G AFP alpha fetoprotein severity ISO protein:increased expression:serum RGD PMID:17659325 RGD:2292039 NCBI chr 7:21,904,225...21,924,105
Ensembl chr 7:21,905,154...21,924,092 		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 6:34,688,585...34,740,458
Ensembl chr 6:34,690,462...34,720,781 		JBrowse link
G ANG angiogenin ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr29:21,215,985...21,226,927 JBrowse link
G APC APC regulator of WNT signaling pathway severity
treatment		 ISO DNA:mutations, haplotype:cds:multiple (human)
protein:increased expression:endometrium (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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		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 chr29:20,978,878...20,981,393 JBrowse link
G AR androgen receptor ISO RGD PMID:15721279 RGD:1578689 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776 		JBrowse link
G ARID1A AT-rich interaction domain 1A onset ISO protein:decreased expression:endometrium (human) RGD PMID:23887303 RGD:126779522 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G BAD BCL2 associated agonist of cell death disease progression ISO protein:altered expression:endometrium (human) RGD PMID:24645842 RGD:13432164 NCBI chr 1:9,949,717...9,964,433
Ensembl chr 1:9,949,762...9,964,432 		JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chr12:47,006,177...47,016,177 JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		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 chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) ISO protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chr 1:31,547,876...31,571,720
Ensembl chr 1:31,547,937...31,570,835 		JBrowse link
G CD9 CD9 molecule ISO RGD PMID:11505398 RGD:2326208 NCBI chr11:6,236,449...6,275,904
Ensembl chr11:6,236,494...6,275,909 		JBrowse link
G CDC25B cell division cycle 25B ISO RGD PMID:14559803 RGD:4105451 NCBI chr 2:34,482,709...34,493,737
Ensembl chr 2:34,483,771...34,494,071 		JBrowse link
G CDC25C cell division cycle 25C ISO DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chr23:40,960,154...41,013,016
Ensembl chr23:40,960,572...41,006,984 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566 		JBrowse link
G COMT catechol-O-methyltransferase no_association
susceptibility		 ISO DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter		 RGD PMID:12810635 PMID:15285606 PMID:17442187 RGD:2289714 RGD:2289721 RGD:2289723 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		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 chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		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 chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		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 chr26:8,727,996...8,733,254 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 4:74,787,292...74,811,196
Ensembl chr 4:74,787,629...74,810,960 		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 chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889 		JBrowse link
G EGF epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO OMIM:608089 MouseDO NCBI chr20:123,738,971...123,753,575
Ensembl chr20:123,738,973...123,755,809 		JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr23:45,220,827...45,328,387
Ensembl chr23:45,220,800...45,328,328 		JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 7:70,089,394...70,157,423 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 chr 2:26,482,734...26,493,761
Ensembl chr 2:26,487,973...26,493,499 		JBrowse link
G HOXB13 homeobox B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chr16:69,137,561...69,141,615
Ensembl chr16:69,137,585...69,139,382 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr14:32,745,436...32,749,176
Ensembl chr14:32,743,708...32,748,577 		JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G JAK1 Janus kinase 1 severity ISO DNA:frameshift mutations RGD PMID:29121062 RGD:150524355 NCBI chr20:68,122,134...68,253,361
Ensembl chr20:68,122,173...68,252,042 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322 		JBrowse link
G LOC103233229 cadherin-1 ISO OMIM NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259
G MCPH1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr 8:6,190,272...6,425,683
Ensembl chr 8:6,190,047...6,425,131 		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 chr24:52,231,468...52,266,179 JBrowse link
G MMP7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:deletions:intron:IVS4_delT (human) RGD PMID:15048091 RGD:2317737 NCBI chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269 		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 4:74,811,181...75,032,067
Ensembl chr 4:74,811,198...75,032,005 		JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:2914711 PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 More... NCBI chr20:87,449,480...87,462,329
Ensembl chr20:87,448,986...87,462,265 		JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO RGD PMID:508567 RGD:2299870 NCBI chr20:69,391,487...69,495,156
Ensembl chr20:69,428,996...69,466,191 		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 chr15:51,705,585...51,885,848
Ensembl chr15:51,775,733...51,889,238 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:21478295 RGD:13441595 NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ameliorates
onset
disease_progression		 ISO DNA:missense mutations:multiple (human)
DNA:polymorphisms: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 chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292 		JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:608089 MouseDO NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G RAD21 RAD21 cohesin complex component onset ISO DNA:CNV: (human) RGD PMID:25546926 RGD:329322876 NCBI chr 8:111,486,356...111,515,641
Ensembl chr 8:111,486,048...111,507,729 		JBrowse link
G RNF43 ring finger protein 43 ISO DNA:mutations:multiple: (human) RGD PMID:25344691 RGD:151361224 NCBI chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107 		JBrowse link
G SHBG sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr16:7,002,380...7,012,170
Ensembl chr16:7,008,682...7,012,764 		JBrowse link
G SMAD2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606 		JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527 		JBrowse link
G SMAD7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr18:31,993,543...32,024,088
Ensembl chr18:31,993,681...32,024,850 		JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr11:88,964,805...88,971,147
Ensembl chr11:88,966,940...88,971,515 		JBrowse link
G SPAG9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr16:42,224,565...42,384,160
Ensembl chr16:42,224,697...42,384,749 		JBrowse link
G STK11 serine/threonine kinase 11 ISO OMIM:608089 RGD
MouseDO		 PMID:18245476 RGD:2291944 NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136 		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 7:18,313,510...18,330,768
Ensembl chr 7:18,313,238...18,330,741 		JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
G TP53 tumor protein p53 ISO OMIM:608089 MouseDO NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TYMP thymidine phosphorylase ISO RGD PMID:18348659 RGD:2293715 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		JBrowse link
G WT1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chr 1:32,750,300...32,801,832 JBrowse link
endometrial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		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 chr24:51,877,074...51,928,042 JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		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 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G AURKA aurora kinase A ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr 2:7,730,060...7,753,167
Ensembl chr 2:7,734,128...7,752,395 		JBrowse link
G AURKB aurora kinase B disease_progression ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr16:7,571,255...7,583,034
Ensembl chr16:7,570,538...7,582,959 		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 chr10:100,539,827...100,627,718
Ensembl chr10:100,539,527...100,627,675 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr21:109,495,525...109,690,261 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 chr16:63,162,827...63,243,928 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 chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,105,125...2,107,353
Ensembl chr 5:2,105,235...2,106,695 		JBrowse link
G BSG basigin (Ok blood group) disease_progression ISO protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 NCBI chr 6:309,579...320,209
Ensembl chr 6:309,506...321,785 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,071,884...2,091,539
Ensembl chr 5:2,073,253...2,091,346 		JBrowse link
G CCNB1 cyclin B1 ISO RGD PMID:17483252 RGD:2289230 NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085 		JBrowse link
G CD82 CD82 molecule disease_progression ISO RGD PMID:12684410 RGD:2289403 NCBI chr 1:20,736,216...20,793,943
Ensembl chr 1:20,735,287...20,763,160 		JBrowse link
G CDH13 cadherin 13 disease_progression ISO DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chr 5:68,048,655...69,213,102
Ensembl chr 5:68,451,894...69,211,534 		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 chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25085752 More... NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182 		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 4:74,787,292...74,811,196
Ensembl chr 4:74,787,629...74,810,960 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,130,879...2,133,817
Ensembl chr 5:2,131,854...2,133,524 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,117,936...2,130,787
Ensembl chr 5:2,117,479...2,130,623 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,135,042...2,147,246
Ensembl chr 5:2,135,129...2,147,109 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 disease_progression ISO RGD PMID:15741767 RGD:2315693 NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333 		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 chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392 		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 chr16:46,264,818...46,346,426
Ensembl chr16:46,264,825...46,347,156 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta severity ISO protein:increased expression:endometrium (human) RGD PMID:27050373 RGD:13524565 NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239 		JBrowse link
G HDAC3 histone deacetylase 3 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr23:44,246,296...44,263,127 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 chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637 		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 chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:15949424 RGD:2302170 NCBI chr25:25,151,642...25,159,723 JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:16474405 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LOC103226816 ATP-binding cassette sub-family A member 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,171,487...2,218,851 JBrowse link
G LOC103233229 cadherin-1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:2449335 PMID:3028782 PMID:8075649 PMID:9537325 PMID:9744472 More... NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		JBrowse link
G LOC103246803 mismatch repair endonuclease PMS2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 More... NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852 		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 chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325 		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 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461 		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 chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393 		JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:16199547 PMID:17656264 PMID:22290698 PMID:25741868 More... NCBI chr24:52,231,468...52,266,179 JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,101,044...2,105,272
Ensembl chr 5:2,101,891...2,105,739 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO RGD PMID:10502722 RGD:2306086 NCBI chr 1:94,097,620...94,110,114
Ensembl chr 1:94,097,896...94,109,432 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		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 chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		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 4:74,811,181...75,032,067
Ensembl chr 4:74,811,198...75,032,005 		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 chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		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 chr20:87,449,480...87,462,329
Ensembl chr20:87,448,986...87,462,265 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr14:82,898,368...83,028,137
Ensembl chr14:82,897,348...83,013,589 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr11:119,675,363...119,917,059
Ensembl chr11:119,676,345...119,917,000 		JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:9276029 RGD:2292090 NCBI chr21:119,174,829...119,196,840 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 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,107,850...2,110,657
Ensembl chr 5:2,106,451...2,110,657 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:23636398 RGD:13628733 NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551 		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 chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:11371124 RGD:2292462 NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256 		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 chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315 		JBrowse link
G PTK2 protein tyrosine kinase 2 severity ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 8:134,897,511...135,246,300 JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,041,871...2,049,623
Ensembl chr 5:2,043,829...2,049,836 		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 chr16:34,666,934...34,708,479
Ensembl chr16:34,666,162...34,708,457 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr22:11,716,969...11,728,646
Ensembl chr22:11,716,918...11,725,027 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,148,929...2,163,810 JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:promoter:hypermethylated RGD PMID:18572225 RGD:2302555 NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307 		JBrowse link
G SFN stratifin ISO RGD PMID:16271083 RGD:2299931 NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720 		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 chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr27:47,021,970...47,045,571
Ensembl chr27:47,021,965...47,045,223 		JBrowse link
G TES testin LIM domain protein severity
exacerbates		 ISO RGD PMID:24929083 RGD:597621666 NCBI chr21:84,913,067...84,963,290
Ensembl chr21:84,913,093...84,963,303 		JBrowse link
G TFF1 trefoil factor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600 		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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:2,051,247...2,072,763
Ensembl chr 5:2,059,349...2,071,297 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682 		JBrowse link
G WNT2 Wnt family member 2 ISO mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr21:85,955,517...86,005,664
Ensembl chr21:85,955,145...86,001,730 		JBrowse link
G WNT3 Wnt family member 3 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr16:60,472,723...60,527,664 JBrowse link
G WNT4 Wnt family member 4 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr20:110,517,391...110,543,802
Ensembl chr20:110,517,564...110,541,203 		JBrowse link
G WNT5A Wnt family member 5A ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr22:16,809,454...16,836,815
Ensembl chr22:16,809,451...16,825,048 		JBrowse link
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr16:70,226,824...70,237,000 JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831 		JBrowse link
G CDC25B cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr 2:34,482,709...34,493,737
Ensembl chr 2:34,483,771...34,494,071 		JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chr23:40,960,154...41,013,016
Ensembl chr23:40,960,572...41,006,984 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr 1:2,696,382...2,699,054
Ensembl chr 1:2,696,233...2,699,028 		JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr20:24,270,963...24,296,263
Ensembl chr20:24,270,952...24,296,647 		JBrowse link
G CSRP1 cysteine and glycine rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr25:27,908,426...27,932,107
Ensembl chr25:27,908,554...27,933,275 		JBrowse link
G DDX1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr14:92,007,446...92,045,414
Ensembl chr14:92,007,036...92,045,190 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 8:134,897,511...135,246,300 JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632 		JBrowse link
G TFF1 trefoil factor 1 ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795 		JBrowse link
Endometrial Hyperplasia without Atypia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial hyperplasia without atypia ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
Endometrial Intraepithelial Neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
Endometrial Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263 		JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:endometrium RGD PMID:17988723 RGD:2315651 NCBI chr11:49,524,864...49,534,774
Ensembl chr11:49,525,641...49,534,712 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO RGD PMID:24474556 RGD:13524584 NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO RGD PMID:18386458 RGD:2298890 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19363521 NCBI chr16:70,226,824...70,237,000 JBrowse link
G CALB2 calbindin 2 ISO protein:decreased expression:endometrium RGD PMID:18604736 RGD:2315881 NCBI chr 5:54,503,635...54,538,304
Ensembl chr 5:54,504,082...54,538,441 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:endometrium
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18306533 PMID:29232554 RGD:2296034 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357 		JBrowse link
G CD44 CD44 molecule (IN blood group) disease_progression ISO protein:decreased expression:endometrium
mRNA, protein:splice variant, increased expression:endometrium		 RGD PMID:14658589 PMID:16308159 RGD:2289358 RGD:2296044 NCBI chr 1:30,039,854...30,132,646
Ensembl chr 1:30,039,749...30,132,416 		JBrowse link
G CD46 CD46 molecule ISO protein:increased expression:tumor:versus benign endometrium (p<0.0001) RGD PMID:10637067 RGD:2293548 NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878 		JBrowse link
G CDK2 cyclin dependent kinase 2 disease_progression ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr11:51,905,085...51,910,209
Ensembl chr11:51,905,115...51,909,907 		JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:14648178 RGD:2299055 NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:cds:p.S31R
protein:increased expression:endometrium		 RGD PMID:15099969 PMID:16837908 RGD:2289683 RGD:2296047 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:endometrium RGD PMID:15188025 RGD:2299090 NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr 1:2,696,382...2,699,054
Ensembl chr 1:2,696,233...2,699,028 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr11:6,603,820...6,641,278
Ensembl chr11:6,602,694...6,640,351 		JBrowse link
G CHFR checkpoint with forkhead and ring finger domains ISO CTD Direct Evidence: marker/mechanism CTD PMID:17143476 NCBI chr11:128,175,768...128,207,710
Ensembl chr11:128,175,515...128,207,443 		JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29805589 PMID:32751388 NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29805589 NCBI chr20:108,777,793...108,815,738
Ensembl chr20:108,813,579...108,814,661 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO RGD PMID:16803534 RGD:2298485 NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190 		JBrowse link
G CTNNB1 catenin beta 1 disease_progression ISO protein:increased expression:nucleus RGD PMID:16803534 PMID:17349568 RGD:2289828 RGD:2298485 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr26:9,122,008...9,151,844 JBrowse link
G DCN decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr11:86,552,392...86,590,229
Ensembl chr11:86,551,072...86,586,891 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:decreased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:decreased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570 		JBrowse link
G EGF epidermal growth factor severity ISO protein:increased expression:plasma (human) RGD PMID:25416211 RGD:13432197 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 severity
disease_progression		 ISO DNA:amplification RGD PMID:17945336 PMID:18202752 RGD:2298490 RGD:2298491 NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression:endometrium RGD PMID:10537356 RGD:2298505 NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression:endometrium RGD PMID:10537356 RGD:2298505 NCBI chr10:97,099,090...98,281,697 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.R156R(human) RGD PMID:26349749 RGD:12880439 NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185510 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25437045 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21903722 NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 susceptibility ISO DNA:SNP
CTD Direct Evidence: marker/mechanism
DNA:mutations		 RGD
CTD		 PMID:18552176 PMID:18785201 PMID:21936542 RGD:2301188 RGD:2301189 NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators RGD PMID:10873085 RGD:2289899 NCBI chr22:21,006,010...22,474,056 JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity
disease_progression		 ISO mRNA, protein:increased expression:endometrium RGD PMID:10831352 PMID:12485477 RGD:2301252 RGD:2301256 NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO human cells in a mouse xenograft model RGD PMID:23941783 RGD:13441554 NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239 		JBrowse link
G HDAC1 histone deacetylase 1 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556 		JBrowse link
G HDAC2 histone deacetylase 2 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742 		JBrowse link
G HOXA10 homeobox A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21670700 NCBI chr21:31,189,240...31,198,244 JBrowse link
G HOXA11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr21:31,180,232...31,187,709
Ensembl chr21:31,183,682...31,186,010 		JBrowse link
G HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr 5:67,464,986...67,529,079
Ensembl chr 5:67,464,334...67,529,182 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21442237 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:plasma:significantly lower circulating levels in 80 cases vs 80 controls (p<0.001), significantly decreased risk in the highest quartile of expression RGD PMID:15159305 RGD:2290018 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		JBrowse link
G INHA inhibin subunit alpha ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr10:105,467,575...105,471,388
Ensembl chr10:105,467,963...105,471,688 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO RGD PMID:18691378 RGD:2299152 NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504 		JBrowse link
G JAZF1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264096 NCBI chr21:30,190,380...30,539,062 JBrowse link
G KDR kinase insert domain receptor disease_progression ISO mRNA:increased expression:endometrium RGD PMID:11745191 PMID:12485477 RGD:2301252 RGD:2301760 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19960433 RGD:2314907 NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LASP1 LIM and SH3 protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28232485 NCBI chr16:67,268,442...67,320,473
Ensembl chr16:67,267,940...67,320,373 		JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO RGD PMID:15491750 RGD:2314921 NCBI chr 4:90,769,988...90,872,205
Ensembl chr 4:90,770,272...90,863,268 		JBrowse link
G LOC103226928 aldo-keto reductase family 1 member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146748 NCBI chr21:103,060,018...103,076,844
Ensembl chr21:103,059,991...103,077,341 		JBrowse link
G LOC103233229 cadherin-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8075649 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr13:88,489,835...88,621,504
Ensembl chr13:88,490,200...88,620,992 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO DNA:amplification RGD PMID:11719459 RGD:70557 NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093 		JBrowse link
G MLH3 mutL homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:52,231,468...52,266,179 JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:mutation, decreased expression:endometrium RGD PMID:11920468 PMID:17925543 RGD:2293523 RGD:2298951 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		JBrowse link
G MSH3 mutS homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:74,811,181...75,032,067
Ensembl chr 4:74,811,198...75,032,005 		JBrowse link
G MSH6 mutS homolog 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10508506 NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17301261 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26656844 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G NCAPG non-SMC condensin I complex subunit G ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480403 NCBI chr27:32,380,722...32,413,659
Ensembl chr27:32,377,575...32,413,494 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20530669 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27348297 NCBI chr 2:77,480,398...77,583,985
Ensembl chr 2:77,577,029...77,580,496 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase no_association ISO DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:22271435 PMID:22544315 RGD:8657377 RGD:8657379 NCBI chr22:45,757,414...45,763,690 JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15877079 NCBI chr11:75,132,547...75,219,633
Ensembl chr11:75,133,186...75,219,072 		JBrowse link
G PGR progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr 1:92,420,970...92,519,128
Ensembl chr 1:92,430,453...92,517,296 		JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:endometrium RGD PMID:10421803 RGD:2292406 NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754 		JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO mRNA:increased expression:endometrium (human) RGD PMID:17427168 RGD:13441594 NCBI chr15:51,705,585...51,885,848
Ensembl chr15:51,775,733...51,889,238 		JBrowse link
G PLXNA3 plexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr  X:128,706,354...128,721,971
Ensembl chr  X:128,708,424...128,721,971 		JBrowse link
G PTEN phosphatase and tensin homolog severity ISO DNA:loss of heterozygosity:cds: (human)
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:endometrium		 RGD
CTD		 PMID:9326929 PMID:9354433 PMID:9765621 PMID:12888921 PMID:16402032 More... RGD:12832746 RGD:12832753 RGD:2292506 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO RGD PMID:14648178 RGD:2299055 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546 		JBrowse link
G RNF144B ring finger protein 144B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29724995 NCBI chr17:53,683,645...53,866,961
Ensembl chr17:53,683,576...53,764,106 		JBrowse link
G RNF43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344691 NCBI chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107 		JBrowse link
G SEMA3B semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr22:11,652,766...11,664,902
Ensembl chr22:11,656,918...11,665,418 		JBrowse link
G SEMA3F semaphorin 3F ISO CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr22:11,540,958...11,574,888
Ensembl chr22:11,545,455...11,575,006 		JBrowse link
G SIX1 SIX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27259717 NCBI chr24:37,840,399...37,855,801
Ensembl chr24:37,840,309...37,845,192 		JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO RGD PMID:15220466 RGD:2315045 NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423 		JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 ISO RGD PMID:9891532 RGD:2300389 NCBI chr23:50,365,686...50,373,300
Ensembl chr23:50,365,269...50,372,814 		JBrowse link
G SPOP speckle type BTB/POZ protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr16:69,990,554...70,073,241 JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr14:75,915,495...75,971,280
Ensembl chr14:75,917,260...75,970,365 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072693 NCBI chr20:108,713,392...108,728,908
Ensembl chr20:108,721,666...108,722,522 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase disease_progression ISO protein:increased expression:endometrium RGD PMID:19443387 RGD:2315087 NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007 		JBrowse link
G STAR steroidogenic acute regulatory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr 8:36,164,891...36,174,424
Ensembl chr 8:36,167,694...36,174,583 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25437045 NCBI chr 6:41,809,654...41,852,685
Ensembl chr 6:41,810,049...41,852,681 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264096 NCBI chr16:25,413,928...25,474,311
Ensembl chr16:25,413,954...25,476,479 		JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:endometrium RGD PMID:11078809 RGD:2298562 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449 		JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:20071162 NCBI chr15:16,934,982...16,953,155
Ensembl chr15:16,934,962...16,954,860 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7955072 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TP73 tumor protein p73 susceptibility ISO DNA:hypermethylation
DNA:polymorphism:exon		 RGD PMID:15723718 PMID:16928264 RGD:2290585 RGD:2298528 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691 		JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32751388 NCBI chr16:3,071,158...3,091,068
Ensembl chr16:3,071,526...3,090,330 		JBrowse link
G TRPV2 transient receptor potential cation channel subfamily V member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32751388 NCBI chr16:15,226,276...15,246,488
Ensembl chr16:15,225,554...15,244,364 		JBrowse link
G TSPYL2 TSPY like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr  X:49,218,055...49,225,619
Ensembl chr  X:49,219,525...49,225,401 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr17:28,377,959...28,394,508 JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18622689 NCBI chr 9:30,674,893...30,862,682
Ensembl chr 9:30,674,578...30,863,250 		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 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		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 chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		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 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976 		JBrowse link
Endometrioid Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO DNA:hypermethylation: (human) RGD PMID:18570730 RGD:13432144 NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G AREG amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr 7:22,979,574...22,990,179
Ensembl chr 7:22,980,249...22,990,162 		JBrowse link
G ATP7B ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr16:70,226,824...70,237,000 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr 6:24,879,923...24,888,985 JBrowse link
G CDK2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr11:51,905,085...51,910,209
Ensembl chr11:51,905,115...51,909,907 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531 		JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792 		JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G DAXX death domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr17:38,754,227...38,758,714
Ensembl chr17:38,754,280...38,759,071 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570 		JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:decreased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G ENO2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr11:6,945,243...6,954,959
Ensembl chr11:6,945,413...6,957,304 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr10:97,099,090...98,281,697 JBrowse link
G ESR1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO DNA:mutations:exons,intron, splice site:varied mutations in different patients, mutations are somatic but identical germline mutations are associated with craniosynostosis and skeletal dysplasia syndromes RGD PMID:17525745 RGD:2289862 NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		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 chr10:105,467,575...105,471,388
Ensembl chr10:105,467,963...105,471,688 		JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr21:16,936,054...16,951,430
Ensembl chr21:16,936,175...16,946,880 		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 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 4:90,769,988...90,872,205
Ensembl chr 4:90,770,272...90,863,268 		JBrowse link
G LOC103233229 cadherin-1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461 		JBrowse link
G MSLN mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO DNA:hypermethylation RGD PMID:17504987 RGD:2290483 NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234 		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 chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292 		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 chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407 		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 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr11:60,728,316...60,800,181
Ensembl chr11:60,727,948...60,799,960 		JBrowse link
endometriosis of uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase disease_progression ISO RGD PMID:31247078 RGD:124715471 NCBI chr  X:89,690,569...89,727,420 JBrowse link
G DNMT1 DNA methyltransferase 1 ISO protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO protein:decreased expression:endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570 		JBrowse link
endometritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP3 caspase 3 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		JBrowse link
G CASP6 caspase 6 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 7:57,592,632...57,616,094
Ensembl chr 7:57,593,342...57,607,489 		JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 9:106,558,291...106,607,662
Ensembl chr 9:106,559,445...106,607,663 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930 		JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:endometrium RGD PMID:25330821 RGD:11059518 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:31365951 RGD:126928127 NCBI chr17:30,873,647...30,885,292
Ensembl chr17:30,873,666...30,886,967 		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 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961 		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 chr 6:47,534,730...47,560,380
Ensembl chr 6:47,539,594...47,552,265 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr17:41,306,523...41,313,065 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 chr13:11,560,543...11,578,070
Ensembl chr13:11,560,222...11,578,093 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr16:61,505,796...61,549,720
Ensembl chr16:61,505,825...61,551,890 		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 chr17:1,781,156...1,783,344
Ensembl chr17:1,781,026...1,783,111 		JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:19246479 PMID:24033266 PMID:25741868 NCBI chr 6:47,534,730...47,560,380
Ensembl chr 6:47,539,594...47,552,265 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234 		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 chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		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 Annotator: match by term: NLRP7-related condition ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 | ClinVar Annotator: match by term: NLRP7-related condition OMIM
ClinVar		 PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More... NCBI chr 6:47,534,730...47,560,380
Ensembl chr 6:47,539,594...47,552,265 		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 | ClinVar Annotator: match by term: KHDC3L-related condition OMIM
ClinVar		 PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr17:1,781,156...1,783,344
Ensembl chr17:1,781,026...1,783,111 		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 | ClinVar Annotator: match by term: MEI1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30388401 NCBI chr19:24,233,516...24,331,176
Ensembl chr19:24,231,807...24,331,022 		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 | ClinVar Annotator: match by term: TOP6BL-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30388401
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      reproductive system disease 3070
        female reproductive system disease 2095
          uterine disease 473
            endometrial disease 272
              Endometrial Neoplasms + 261
              Metrorrhagia 0
              endometrial hyperplasia + 18
              endometriosis of uterus 4
              endometritis + 6
              mixed endometrial stromal and smooth muscle tumor 0
              polyp of corpus uteri 0
              tamoxifen-related endometrial lesion 0
Path 2
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      Urogenital Diseases 4832
        Female Urogenital Diseases and Pregnancy Complications 2535
          Female Urogenital Diseases 2098
            female reproductive system disease 2095
              uterine disease 473
                endometrial disease 272
                  Endometrial Neoplasms + 261
                  Metrorrhagia 0
                  endometrial hyperplasia + 18
                  endometriosis of uterus 4
                  endometritis + 6
                  mixed endometrial stromal and smooth muscle tumor 0
                  polyp of corpus uteri 0
                  tamoxifen-related endometrial lesion 0
paths to the root