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: Endometrioid Carcinomas
Accession: DOID:9004265
browse the term
Definition: An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.
Synonyms: exact_synonym: endometrioid adenocarcinoma; endometrioid adenocarcinomas; endometrioid carcinoma
narrow_synonym: ENDOMETRIAL ENDOMETRIOID ADENOCARCINOMA, VARIANT WITH SQUAMOUS DIFFERENTIATION; stage I endometrioid carcinoma; stage II endometrioid carcinoma
primary_id: MESH:D018269
xref: EFO:0000205 ; EFO:0000206 ; EFO:0000466
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 chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
Areg
amphiregulin
ISO
mRNA, protein:increased expression:endometrium
RGD
PMID:16962163
RGD:2289950
NCBI chr14:17,256,384...17,265,641
Ensembl chr14:16,972,187...16,981,535
G
Atp7b
ATPase copper transporting beta
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:15790435
RGD:2298864
NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636
G
Birc5
baculoviral IAP repeat-containing 5
ISO
protein:increased expression:endometrium
RGD
PMID:16803539
RGD:2298940
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
G
Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:12782598
RGD:2296026
NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
G
Car9
carbonic anhydrase 9
ISO
protein:altered localization:membrane, endometrium
RGD
PMID:17452774
RGD:2298945
NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838
G
Ccne1
cyclin E1
ISO
protein:increased expression:endometrium
RGD
PMID:17483252
RGD:2289230
NCBI chr 1:99,918,672...99,927,986
Ensembl chr 1:90,781,949...90,791,101
G
Cdh1
cadherin 1
ISO
protein:decreased expression:endometrium
RGD
PMID:18295959
RGD:2296045
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
G
Cdk2
cyclin dependent kinase 2
severity
ISO
RGD
PMID:9673386
RGD:2298990
NCBI chr 7:1,714,392...1,721,964
Ensembl chr 7:1,129,811...1,137,403
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
RGD
PMID:17985331
RGD:2299091
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
G
Chek2
checkpoint kinase 2
susceptibility
ISO
RGD
PMID:17164260
RGD:2293868
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
G
Ctnnb1
catenin beta 1
ISO
DNA:mutations
RGD
PMID:17418409
RGD:2289817
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
Daxx
death-domain associated protein
ISO
protein:increased expression:ovary:
RGD
PMID:23539629
RGD:9587820
NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843
G
Dnmt1
DNA methyltransferase 1
ISO
mRNA,protein:increased expression:uterus:
RGD
PMID:15721400
RGD:9588596
NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659
G
Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA,protein:increased expression:uterus:
RGD
PMID:15721400
RGD:9588596
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
G
Egfr
epidermal growth factor receptor
ISO
mRNA:decreased expression:endometrium
RGD
PMID:16962163
RGD:2289950
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
G
Eno2
enolase 2
ISO
RGD
PMID:18156975
RGD:2293737
NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980
G
Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
G
Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525
G
Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
G
Esr1
estrogen receptor 1
severity
ISO
protein:increased phosphorylation
RGD
PMID:14559803
RGD:4105451
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
G
Fgfr2
fibroblast growth factor receptor 2
ISO
RGD
PMID:17525745
RGD:2289862
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
G
Igfbp3
insulin-like growth factor binding protein 3
disease_progression
ISO
RGD
PMID:17952116
RGD:2301465
NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083
G
Inha
inhibin subunit alpha
ISO
RGD
PMID:17143484
RGD:2290368
NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:76,993,589...76,997,248
G
Inhba
inhibin subunit beta A
ISO
protein:decreased expression:endometrium
RGD
PMID:16423381
RGD:2301688
NCBI chr17:53,787,159...53,810,942
Ensembl chr17:49,095,920...49,108,982
G
Kdr
kinase insert domain receptor
severity
ISO
RGD
PMID:16557278
RGD:2291929
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
G
Kras
KRAS proto-oncogene, GTPase
ISO
associated with Ovarian Neoplasms
RGD
PMID:19542870
RGD:2314910
NCBI chr 4:179,916,255...179,949,613
G
Lnpep
leucyl and cystinyl aminopeptidase
ISO
associated with Endometrial Neoplasms
RGD
PMID:15218296
RGD:2314922
NCBI chr 1:66,931,712...67,027,610
Ensembl chr 1:58,258,642...58,354,544
G
Mapk1
mitogen activated protein kinase 1
treatment
ISO
RGD
PMID:24917306
RGD:13441559
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
G
Mapk3
mitogen activated protein kinase 3
treatment
ISO
RGD
PMID:24917306
RGD:13441559
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
G
Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643
G
Nkx2-1
NK2 homeobox 1
ISO
DNA:hypermethylation
RGD
PMID:17504987
RGD:2290483
NCBI chr 6:79,731,677...79,735,952
Ensembl chr 6:73,996,601...73,999,791
G
Pdgfra
platelet derived growth factor receptor alpha
ISO
protein:decreased expression:ovary
RGD
PMID:15791568
RGD:2298578
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
G
Pdgfrb
platelet derived growth factor receptor beta
ISO
protein:increased expression:ovary
RGD
PMID:15791568
RGD:2298578
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
G
Pole
DNA polymerase epsilon, catalytic subunit
ameliorates
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Endometrioid adenocarcinoma
ClinVar RGD
PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 PMID:25228659 PMID:28492532 PMID:29505428 More...
RGD:151347648
NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939
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 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
G
Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16633066
RGD:1581360
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162
G
St14
ST14 transmembrane serine protease matriptase
ISO
associated with Ovarian Neoplasms;protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:29,540,811...29,581,517
G
Wif1
Wnt inhibitory factor 1
ISO
mRNA:increased expression:ovary
RGD
PMID:16436637
RGD:2298535
NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:56,548,053...56,618,360
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 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067
G
Angpt2
angiopoietin 2
ISO
protein:increased expression:endometrium epithelium
RGD
PMID:17295646
RGD:2293852
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
G
Arid1a
AT-rich interaction domain 1A
treatment
ISO
human cell in mouse model
RGD
PMID:21900401
RGD:126725086
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
G
Axin2
axin 2
ISO
RGD
PMID:11940574
RGD:13432156
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
G
Bet1l
Bet1 golgi vesicular membrane trafficking protein-like
disease_progression
ISO
RGD
PMID:28654152
RGD:14394612
NCBI chr 1:205,361,041...205,365,036
Ensembl chr 1:195,931,411...195,935,040
G
Cd55
CD55 molecule (Cromer blood group)
ISO
RGD
PMID:11506079
RGD:2326173
NCBI chr13:44,409,574...44,438,913
Ensembl chr13:41,857,395...41,885,831
G
Ebag9
estrogen receptor binding site associated antigen 9
ISO
protein:increased expression:endometrium
RGD
PMID:16112719
RGD:2289850
NCBI chr 7:77,695,213...77,713,565
Ensembl chr 7:75,810,594...75,861,248
G
Foxo3
forkhead box O3
severity
ISO
associated with Obesity;protein:decreased expression:endometrium (human)
RGD
PMID:26045339
RGD:11530998
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
G
Gpx3
glutathione peroxidase 3
IEP
mRNA:decreased expression:endometrium (rat)
RGD
PMID:19426485
RGD:2312621
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
G
Irf1
interferon regulatory factor 1
IAGP
DNA:deletions (rat)
RGD
PMID:19075038
RGD:5128782
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:37,916,670...37,924,166
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
no_association
ISO
RGD
PMID:10684716
RGD:2290482
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
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 4:179,916,255...179,949,613
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 chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
G
Pdcd10
programmed cell death 10
disease_progression
ISO
protein:increased expression:endometrium (human)
RGD
PMID:32186778
RGD:401827111
NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:21478295
RGD:13441595
NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631
G
Pten
phosphatase and tensin homolog
ameliorates
ISO
RGD
PMID:32843721
RGD:127285600
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
G
Ptges
prostaglandin E synthase
ISO
protein:increased expression:endometrium
RGD
PMID:11592775
RGD:2300089
NCBI chr 3:34,575,643...34,586,987
G
Rrm2
ribonucleotide reductase regulatory subunit M2
IAGP
DNA:amplification (rat)
RGD
PMID:15942940
RGD:2324953
NCBI chr 6:47,044,755...47,075,370
Ensembl chr 6:41,340,557...41,346,773
G
Tgfbr3
transforming growth factor beta receptor 3
ISO
mRNA:decreased expression:endometrium
RGD
PMID:15745937
RGD:1579943
NCBI chr14:2,634,294...2,810,269
Ensembl chr14:2,489,397...2,663,341
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 chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Tsg101
tumor susceptibility 101
ISO
mRNA:alternative forms
RGD
PMID:10027311
RGD:2291854
NCBI chr 1:106,549,035...106,578,859
Ensembl chr 1:97,410,848...97,442,554
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 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
G
Brca2
BRCA2, DNA repair associated
susceptibility
ISO
DNA:deletion: :6174delT
RGD
PMID:16650962
RGD:2289045
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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 PMID:29922827 More...
NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all