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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 the Endometrium;   Endometrial Cancers;   cancer of endometrium;   endometrial Ca;   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
 primary_id: OMIM:608089
 alt_id: RDO:9002559
 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 chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Afp alpha-fetoprotein severity ISO protein:increased expression:serum RGD PMID:17659325 RGD:2292039 NCBI chr14:19,141,755...19,159,919
Ensembl chr14:19,141,755...19,159,923
JBrowse link
G Akt2 AKT serine/threonine kinase 2 severity ISO DNA:snp:intron:c.287+993G>A (rs892119) (human) RGD PMID:22146979 RGD:13432140 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Ang angiogenin ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Apc APC regulator of WNT signaling pathway severity
treatment
ISO with Pten knockout
protein:increased expression:endometrium (human)
DNA:mutations, haplotype:cds:multiple (human)
human cells in a mouse model
RGD PMID:23288720, PMID:15951972, PMID:29876005, PMID:22907428 RGD:13524585, RGD:13673917, RGD:13673916, RGD:13524624 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) RGD PMID:11465542 RGD:2315878 NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
JBrowse link
G Ar androgen receptor ISO RGD PMID:15721279 RGD:1578689 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bag1 BAG cochaperone 1 ISO protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chr 5:57,254,421...57,267,002
Ensembl chr 5:57,254,421...57,267,002
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 treatment ISO protein:increased expression:endometrium: RGD PMID:26498112, PMID:22729361, PMID:22729361 RGD:14398492, RGD:14398498, RGD:14398498 NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G Cd59 CD59 molecule ISO protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Cd9 CD9 molecule ISO RGD PMID:11505398 RGD:2326208 NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
JBrowse link
G Cdc25b cell division cycle 25B ISO RGD PMID:14559803 RGD:4105451 NCBI chr 3:123,731,539...123,741,696
Ensembl chr 3:123,731,539...123,741,339
JBrowse link
G Cdc25c cell division cycle 25C ISO DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chr18:27,528,768...27,550,316
Ensembl chr18:27,528,354...27,550,224
JBrowse link
G Cdh1 cadherin 1 ISO OMIM NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IAGP DNA:deletions:exon (rat) RGD PMID:18558284 RGD:2316081 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B IAGP DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Comt catechol-O-methyltransferase susceptibility
no_association
ISO DNA:hypermethylation:promoter
DNA:polymorphism: :p.V158M
RGD PMID:12810635, PMID:17442187, PMID:15285606 RGD:2289723, RGD:2289714, RGD:2289721 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) RGD PMID:18497059 RGD:2301045 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:18318428 RGD:2301040 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO RGD PMID:18497059 RGD:2301045 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Egf epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISS OMIM:608089 MouseDO NCBI chr 5:167,951,564...167,966,011
Ensembl chr 5:167,952,728...167,966,009
JBrowse link
G Fgf1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
JBrowse link
G Fgf2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Hoxb13 homeo box B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chr10:84,031,955...84,034,228
Ensembl chr10:84,031,955...84,034,228
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Jup junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial cancer ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:23014527 PMID:23182985 PMID:23406027 PMID:25044103 PMID:25157968 PMID:31666701 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mcph1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: endometrial cancer OMIM
ClinVar
PMID:12702580 NCBI chr 6:109,059,386...109,095,876
Ensembl chr 6:109,059,341...109,095,557
JBrowse link
G Mmp7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
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 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Msh3 mutS homolog 3 ISO OMIM NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Endometrial cancer OMIM
ClinVar
PMID:11807791 PMID:15483016 PMID:18301448 PMID:20028993 PMID:20379851 PMID:20487569 PMID:20937110 PMID:23733757 PMID:24323032 PMID:24362816 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26689913 PMID:28492532 PMID:28528518 PMID:29360161 PMID:31658756 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: endometrial cancer ClinVar PMID:11818965 PMID:12606733 PMID:15635083 PMID:15931596 PMID:15987719 PMID:16492921 PMID:16557584 PMID:17489848 PMID:17956577 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19394335 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20418187 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22926731 PMID:23035301 PMID:23108399 PMID:23361220 PMID:23561487 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24728327 PMID:24953332 PMID:25741868 PMID:25820570 PMID:26467025 PMID:26822237 PMID:26845104 PMID:27829682 PMID:28492532 PMID:28634180 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
JBrowse link
G Notch1 notch receptor 1 ISO mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Notch4 notch receptor 4 ISO mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO RGD PMID:508567 RGD:2299870 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
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 8:107,275,849...107,381,088
Ensembl chr 8:107,275,725...107,380,933
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO RGD PMID:21478295 RGD:13441595 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Pten phosphatase and tensin homolog ISS
ISO
OMIM:608089
ClinVar Annotator: match by term: Endometrial cancer
MouseDO
ClinVar
PMID:10866302 PMID:11504908 PMID:18767981 PMID:20085938 PMID:21824802 PMID:21828076 PMID:25157968 PMID:26619011 PMID:27535533 PMID:29706350 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Shbg sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
JBrowse link
G Smad2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
JBrowse link
G Smad3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Smad7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr 7:36,495,496...36,500,878
Ensembl chr 7:36,495,480...36,499,784
JBrowse link
G Spag9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr10:81,693,736...81,827,562
Ensembl chr10:81,693,770...81,827,562
JBrowse link
G Stk11 serine/threonine kinase 11 ISO
ISS
OMIM:608089 MouseDO PMID:18245476, PMID:18245476 RGD:2291944, RGD:2291944 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO RGD PMID:16985250 RGD:1581436 NCBI chr 1:198,100,586...198,104,106
Ensembl chr 1:198,100,586...198,104,109
JBrowse link
G Sult1e1 sulfotransferase family 1E member 1 ISO RGD PMID:18318428 RGD:2301040 NCBI chr14:22,070,861...22,089,264
Ensembl chr14:22,072,024...22,089,248
JBrowse link
G Tff1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr20:9,892,124...9,895,984
Ensembl chr20:9,892,124...9,895,984
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tp53 tumor protein p53 ISS OMIM:608089 MouseDO NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tymp thymidine phosphorylase ISO RGD PMID:18348659 RGD:2293715 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO DNA:SNP: :rs2070959 (human) RGD PMID:18349273 RGD:2315450 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Wt1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Axin2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chr10:97,212,483...97,238,824
Ensembl chr10:97,212,432...97,239,642
JBrowse link
G Bet1l Bet1 golgi vesicular membrane trafficking protein-like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chr 1:213,602,836...213,606,507
Ensembl chr 1:213,602,850...213,605,643
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO RGD PMID:11506079 RGD:2326173 NCBI chr13:47,125,156...47,153,557
Ensembl chr13:47,126,741...47,154,292
JBrowse link
G Ebag9 estrogen receptor binding site associated, antigen, 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr 7:83,564,563...83,582,516
Ensembl chr 7:83,564,563...83,582,508
JBrowse link
G Foxo3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Gpx3 glutathione peroxidase 3 IEP mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Irf1 interferon regulatory factor 1 IAGP DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit no_association ISO RGD PMID:10684716 RGD:2290482 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Kras KRAS proto-oncogene, GTPase IAGP DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) RGD PMID:10775052 RGD:1600499 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)
RGD PMID:23402905, PMID:14760076 RGD:13703125, RGD:13703137 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)
RGD PMID:23402905, PMID:14760076 RGD:13703125, RGD:13703137 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 IAGP DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Tgfbr3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr14:3,506,416...3,680,508
Ensembl chr14:3,506,339...3,682,545
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:missense mutations
protein:increased expression:endometrium
RGD PMID:1540970, PMID:1540970 RGD:2290541, RGD:2290541 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tsg101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr 1:102,941,151...102,971,017
Ensembl chr 1:102,941,231...102,970,950
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 chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Apc APC regulator of WNT signaling pathway onset ISO DNA:hypermethylation:promoter: (human) RGD PMID:19900189, PMID:21363919 RGD:13524625, RGD:13525011 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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:28492532 NCBI chr 6:108,630,790...108,796,096
Ensembl chr 6:108,635,220...108,796,124
JBrowse link
G Aurka aurora kinase A ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
JBrowse link
G Aurkb aurora kinase B disease_progression ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr10:55,625,860...55,632,399
Ensembl chr10:55,626,741...55,634,991
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar PMID:16144912 RGD:13432166 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,839,599...13,841,132
Ensembl chr10:13,839,956...13,841,018
JBrowse link
G Bsg basigin (Ok blood group) disease_progression ISO protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 NCBI chr 7:12,875,536...12,882,753
Ensembl chr 7:12,875,537...12,882,753
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,853,107...13,874,254
Ensembl chr10:13,854,339...13,874,254
JBrowse link
G Ccnb1 cyclin B1 ISO RGD PMID:17483252 RGD:2289230 NCBI chr 2:30,782,133...30,791,106
Ensembl chr 2:30,783,915...30,791,221
JBrowse link
G Cd82 Cd82 molecule disease_progression ISO RGD PMID:12684410 RGD:2289403 NCBI chr 3:82,324,344...82,368,846
Ensembl chr 3:82,324,354...82,368,357
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8075649 PMID:11598162 PMID:12588804 PMID:14500541 PMID:20233471 PMID:20921021 PMID:22470475 PMID:22703879 PMID:24728327 PMID:25067988 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26182300 PMID:26467025 PMID:27616075 PMID:27720647 PMID:28125075 PMID:28135145 PMID:28352678 PMID:28492532 PMID:30311375 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdh13 cadherin 13 disease_progression ISO DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chr19:50,848,793...51,971,618
Ensembl chr19:50,848,736...51,972,103
JBrowse link
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,812,335...13,814,514
Ensembl chr10:13,812,707...13,814,304
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,812,335...13,835,847
Ensembl chr10:13,815,293...13,826,945
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,797,573...13,810,918
Ensembl chr10:13,797,562...13,810,913
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 disease_progression ISO RGD PMID:15741767 RGD:2315693 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
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:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:15975938 PMID:16440883 PMID:16531735 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24489893 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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 chr10:104,193,953...104,263,071
Ensembl chr10:104,193,955...104,263,071
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta severity ISO protein:increased expression:endometrium (human) RGD PMID:27050373 RGD:13524565 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Hdac3 histone deacetylase 3 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hras HRas proto-oncogene, GTPase disease_progression ISO protein:increased expression:endometrial stroma, cytoplasm (human)
DNA:snps:cds: (human)
RGD PMID:9641239, PMID:8960147 RGD:13441555, RGD:13781876 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit disease_progression ISO RGD PMID:15800680 RGD:2290481 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:15949424 RGD:2302170 NCBI chr13:50,529,506...50,537,603
Ensembl chr13:50,529,510...50,535,389
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16474405 PMID:16618717 PMID:16987887 PMID:17056636 PMID:17384584 PMID:17704260 PMID:17875937 PMID:18316791 PMID:18794081 PMID:18958496 PMID:19018267 PMID:19020799 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:20949621 PMID:21228335 PMID:21686179 PMID:21784453 PMID:21975775 PMID:23014527 PMID:23182985 PMID:23406027 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25359213 PMID:25741868 PMID:28492532 PMID:29493581 PMID:31666701 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Mapk1 mitogen activated protein kinase 1 severity ISO protein:increased expression:endometrium (human)
protein:increased phosphorylation:endometrium (human)
RGD PMID:29081408, PMID:22459351 RGD:13702082, RGD:13441552 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 severity ISO protein:increased expression:endometrium (human)
protein:increased phosphorylation:endometrium (human)
RGD PMID:29081408, PMID:22459351 RGD:13702082, RGD:13441552 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mir152 microRNA 152 ISO DNA:hypermethylation RGD PMID:21327300 RGD:21066329 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12115348 PMID:15133479 PMID:16341804 PMID:16995940 PMID:17510385 PMID:18383312 PMID:18561205 PMID:21056691 PMID:21681552 PMID:22703879 PMID:22736432 PMID:22949387 PMID:24055113 PMID:24728327 PMID:24933000 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27600092 PMID:28492532 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
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 NCBI chr 6:109,059,386...109,095,876
Ensembl chr 6:109,059,341...109,095,557
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,839,250...13,845,001
Ensembl chr10:13,839,250...13,845,001
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO RGD PMID:10502722 RGD:2306086 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8782829 PMID:27476653 PMID:28492532, PMID:8782829 RGD:1600456 NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:10471527 PMID:10508506 PMID:10521294 PMID:10537275 PMID:10612827 PMID:11470537 PMID:11709755 PMID:11807791 PMID:12019211 PMID:12732731 PMID:14520694 PMID:15098177 PMID:15236168 PMID:15354210 PMID:15483016 PMID:15782118 PMID:15872200 PMID:16203774 PMID:16408224 PMID:16636019 PMID:16813607 PMID:16885385 PMID:17594722 PMID:18033691 PMID:18269114 PMID:18301448 PMID:18566915 PMID:18790734 PMID:19250818 PMID:19389263 PMID:19924528 PMID:20028993 PMID:20176959 PMID:20379851 PMID:20487569 PMID:20937110 PMID:21120944 PMID:22006311 PMID:22102614 PMID:22290698 PMID:22495361 PMID:22703879 PMID:22851212 PMID:23047549 PMID:23263490 PMID:23359684 PMID:23523604 PMID:23621914 PMID:23733757 PMID:24033266 PMID:24040339 PMID:24100870 PMID:24323032 PMID:24362816 PMID:24728327 PMID:25006859 PMID:25117503 PMID:25203624 PMID:25231023 PMID:25318681 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25637381 PMID:25741868 PMID:25801821 PMID:25892863 PMID:25980754 PMID:26206375 PMID:26333163 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26530882 PMID:26681312 PMID:26689913 PMID:26720728 PMID:26845104 PMID:26898890 PMID:26901136 PMID:26976419 PMID:27487738 PMID:28125075 PMID:28135145 PMID:28176205 PMID:28323777 PMID:28466842 PMID:28492532 PMID:28528518 PMID:28531214 PMID:28640387 PMID:28767289 PMID:28873162 PMID:29212164 PMID:29360161 PMID:29368341 PMID:29684080 PMID:29887214 PMID:30093976 PMID:30267214 PMID:30982232 PMID:31100584 PMID:31658756 PMID:32615015 PMID:32773772 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
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 PMID:16557584 PMID:16616356 PMID:17489848 PMID:17956577 PMID:18414213 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19394335 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:20418187 PMID:20725929 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:22266422 PMID:22703879 PMID:22926731 PMID:23035301 PMID:23361220 PMID:23605219 PMID:24033266 PMID:24444654 PMID:24728327 PMID:25741868 PMID:25820570 PMID:26467025 PMID:26845104 PMID:27829682 PMID:28492532 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
JBrowse link
G Ncoa1 nuclear receptor coactivator 1 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr 6:28,677,563...28,931,844
Ensembl chr 6:28,677,540...28,931,843
JBrowse link
G Ncor2 nuclear receptor co-repressor 2 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr12:36,871,917...37,033,701
Ensembl chr12:36,871,999...37,033,701
JBrowse link
G Nos3 nitric oxide synthase 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:9276029 RGD:2292090 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26689913 PMID:26692951 PMID:28492532 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,836,105...13,838,731
Ensembl chr10:13,836,128...13,838,765
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:23636398 RGD:13628733 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Prkca protein kinase C, alpha ISO RGD PMID:11371124 RGD:2292462 NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7728760 PMID:8980400 PMID:9326929 PMID:9740666 PMID:10555148 PMID:10866302 PMID:11504908 PMID:12372056 PMID:18767981 PMID:20085938 PMID:21194675 PMID:21659347 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22703879 PMID:23161105 PMID:23442912 PMID:23555315 PMID:24033266 PMID:24055113 PMID:24728327 PMID:24763289 PMID:25157968 PMID:25186627 PMID:25669429 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26580448 PMID:26619011 PMID:26800850 PMID:27428751 PMID:27477328 PMID:27535533 PMID:28135145 PMID:28492532 PMID:28677221 PMID:29706350 PMID:29785012 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptk2 protein tyrosine kinase 2 severity ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,894,271...13,898,578
Ensembl chr10:13,893,290...13,898,855
JBrowse link
G Rassf1 Ras association domain family member 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,786,339...13,796,720
Ensembl chr10:13,786,459...13,796,717
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:18572225 RGD:2302555 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Sfn stratifin ISO RGD PMID:16271083 RGD:2299931 NCBI chr 5:151,823,422...151,824,937
Ensembl chr 5:151,823,887...151,824,633
JBrowse link
G Smad4 SMAD family member 4 severity ISO DNA:substitutions:promoter
mRNA:decreased expression:endometrium
RGD PMID:10331746, PMID:15385128 RGD:2300009, RGD:2299966 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Tacc3 transforming, acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr14:82,336,283...82,350,069
Ensembl chr14:82,336,324...82,347,679
JBrowse link
G Tff1 trefoil factor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr20:9,892,124...9,895,984
Ensembl chr20:9,892,124...9,895,984
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Tp53 tumor protein p53 severity ISO
IMP
protein:increased expression:epithelial cell, endometrium
DNA:mutations: :
RGD PMID:18431720, PMID:26353976 RGD:2298525, RGD:11075084 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,874,444...13,893,090
Ensembl chr10:13,874,456...13,892,997
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Wnt2 Wnt family member 2 ISO mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 4:45,286,845...45,332,899
Ensembl chr 4:45,292,437...45,332,420
JBrowse link
G Wnt3 Wnt family member 3 ISO RGD PMID:9099960 RGD:2291875 NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
G Wnt4 Wnt family member 4 ISO RGD PMID:9099960 RGD:2291875 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
G Wnt5a Wnt family member 5A ISO RGD PMID:9099960 RGD:2291875 NCBI chr16:4,469,451...4,490,271
Ensembl chr16:4,469,468...4,489,860
JBrowse link
endometrial serous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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 RGD PMID:17367465 RGD:2292170 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:hypermethylation: (human) RGD PMID:18570730 RGD:13432144 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Areg amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
JBrowse link
G Atp7b ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Ca9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
JBrowse link
G Cdh1 cadherin 1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdk2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr 7:3,124,953...3,132,533
Ensembl chr 7:3,124,954...3,132,457
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Chek2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Ctnnb1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Daxx death-domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Egfr epidermal growth factor receptor ISO mRNA:decreased expression:endometrium
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar PMID:22885469, PMID:16962163 RGD:2289950 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eno2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Esr1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:23908597 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570, PMID:17525745 RGD:2289862 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Inha inhibin subunit alpha ISO RGD PMID:17143484 RGD:2290368 NCBI chr 9:82,700,482...82,703,383
Ensembl chr 9:82,700,468...82,703,400
JBrowse link
G Inhba inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr17:51,894,869...51,919,998
Ensembl chr17:51,898,217...51,912,496
JBrowse link
G Kdr kinase insert domain receptor severity ISO RGD PMID:16557278 RGD:2291929 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 1:59,289,392...59,384,540
Ensembl chr 1:59,297,294...59,347,472
Ensembl chr 1:59,297,294...59,347,472
JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO DNA:hypermethylation RGD PMID:17504987 RGD:2290483 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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 NCBI chr16:20,415,109...20,424,982
Ensembl chr16:20,416,432...20,424,980
JBrowse link
G Pten phosphatase and tensin homolog ISO DNA:mutations: :multiple
DNA:loss of heterozygosity, mutations:multiple (human)
RGD PMID:17418409, PMID:11156411 RGD:2289817, RGD:12802357 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr 7:63,094,955...63,165,158
Ensembl chr 7:63,094,911...63,165,159
JBrowse link
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou5f1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr20:3,747,231...3,751,994
Ensembl chr20:3,747,221...3,751,994
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 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367
JBrowse link
G Khdc3 KH domain containing 3, subcortical maternal complex member ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:79,781,941...79,783,845
Ensembl chr 8:79,781,983...79,783,592
JBrowse link
G Mlh1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Msh2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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 chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:19066229 PMID:21507883 PMID:24105752 NCBI chr 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25097207 PMID:25741868 PMID:26956250 PMID:28492532 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Khdc3 KH domain containing 3, subcortical maternal complex member ISO ClinVar Annotator: match by OMIM:614293
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 PMID:23232697 PMID:24033266 NCBI chr 8:79,781,941...79,783,845
Ensembl chr 8:79,781,983...79,783,592
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 chr 7:123,308,041...123,361,391
Ensembl chr 7:123,308,041...123,361,391
JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1563323 similar to hypothetical protein FLJ22531 ISO ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 4 OMIM
ClinVar
PMID:25741868 PMID:30388401 NCBI chr 1:219,864,108...219,952,143 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      reproductive system disease 2589
        female reproductive system disease 1628
          endometriosis 361
            endometrial cancer 186
              endometrial carcinoma + 122
              endometrial stromal tumor + 1
              gestational trophoblastic neoplasm + 11
              vaginal endometrial stromal sarcoma 0
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Urogenital Diseases 4159
        Female Urogenital Diseases and Pregnancy Complications 1926
          Female Urogenital Diseases 1632
            female reproductive system disease 1628
              uterine disease 462
                Uterine Neoplasms 424
                  Endometrial Neoplasms 263
                    endometrial cancer 186
                      endometrial carcinoma + 122
                      endometrial stromal tumor + 1
                      gestational trophoblastic neoplasm + 11
                      vaginal endometrial stromal sarcoma 0
paths to the root