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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:uterine disease
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Accession:DOID:345 term browser browse the term
Definition:A female reproductive system disease that is located_in the uterus. (DO)
Synonyms:exact_synonym: uterine diseases
 primary_id: MESH:D014591
 alt_id: RDO:0004098
 xref: ICD10CM:N85.9;   ICD9CM:621.9;   NCI:C26907
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
uterine disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CGA glycoprotein hormones, alpha polypeptide EXP CTD Direct Evidence: therapeutic CTD PMID:20146381 NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106
JBrowse link
adhesions of uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDR kinase insert domain receptor severity
treatment
IEP
ISO
mRNA, protein:increased expression:endometrium RGD PMID:31596310 PMID:31596310 RGD:126925216, RGD:126925216 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 IEP protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CD8A CD8a molecule HEP mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G FOXP3 forkhead box P3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G IFNA6 interferon alpha 6 treatment IEP RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,349,835...21,351,378
JBrowse link
G IL10 interleukin 10 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12B interleukin 12B treatment IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL2 interleukin 2 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 IEP protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL4 interleukin 4 treatment IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KLRK1 killer cell lectin like receptor K1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment HEP mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,022
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G PDCD1 programmed cell death 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression IEP mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR3 toll like receptor 3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,069,155...186,088,073
JBrowse link
G TLR4 toll like receptor 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR7 toll like receptor 7 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TLR8 toll like receptor 8 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169
JBrowse link
G TLR9 toll like receptor 9 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
JBrowse link
cervical adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPINK1 serine peptidase inhibitor Kazal type 1 IEP RGD PMID:2258083 RGD:2300391 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
JBrowse link
G TFF1 trefoil factor 1 IEP mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
G TFRC transferrin receptor IEP protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
G TP53 tumor protein p53 disease_progression IEP RGD PMID:17354237 RGD:2298527 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IEP protein:increased expression:serum RGD PMID:11299848 RGD:2325708 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP
IAGP
DNA:polymorphism: :p.D148E (human) RGD PMID:19292061 PMID:18503157 RGD:2315657, RGD:2315662 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
JBrowse link
G API5 apoptosis inhibitor 5 disease_progression IEP mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr11:43,311,996...43,344,529
Ensembl chr11:43,311,963...43,344,529
JBrowse link
G BCL2L1 BCL2 like 1 IEP protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 IEP mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BRCA1 BRCA1 DNA repair associated disease_progression IDA DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ClinVar Annotator: match by term: Cancer of cervix ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G BSG basigin (Ok blood group) disease_progression IEP RGD PMID:18223224 RGD:2296028 NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494
JBrowse link
G CASP3 caspase 3 IEP RGD PMID:18177927 RGD:2298948 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CCNB1 cyclin B1 IEP mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245
JBrowse link
G CD55 CD55 molecule (Cromer blood group) IEP RGD PMID:9358772 RGD:2293549 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
JBrowse link
G CDC25A cell division cycle 25A IDA RGD PMID:18299147 RGD:2296067 NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417
JBrowse link
G CDC25C cell division cycle 25C IEP RGD PMID:15289842 RGD:4105450 NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
JBrowse link
G CDH13 cadherin 13 IDA DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr16:82,626,969...83,800,640
Ensembl chr16:82,626,965...83,800,640
JBrowse link
G CDK1 cyclin dependent kinase 1 IDA RGD PMID:18299147 RGD:2296067 NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 disease_progression IEP protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chr 8:109,539,702...109,565,996
Ensembl chr 8:109,539,711...109,565,996
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IEP protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G FANCA FA complementation group A no_association IAGP DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
DNA:SNP: :rs11649196 (human)
RGD PMID:19012493 PMID:21543111 RGD:11344886, RGD:11344901 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IEA
IAGP
OMIM:603956
ClinVar Annotator: match by term: Cancer of cervix
ClinVar Annotator: match by term: Cervical cancer
MouseDO
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP RGD PMID:18177825 RGD:2293825 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP RGD PMID:18177825 RGD:2293825
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7 RGD PMID:12543794 RGD:2314696 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphism: :HLA-DPB1*1301 (human) RGD PMID:17349874 RGD:150429811 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)
DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)
RGD PMID:25893807 PMID:16425277 RGD:36174015, RGD:36174023 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C IEP protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
JBrowse link
G HOXB13 homeobox B13 IEP mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr17:48,724,763...48,728,750
Ensembl chr17:48,724,763...48,728,750
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 IEP Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230
JBrowse link
G IL10 interleukin 10 disease_progression IEP protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL1B interleukin 1 beta susceptibility IAGP associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G KDM3A lysine demethylase 3A severity IMP human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr 2:86,437,044...86,492,716
Ensembl chr 2:86,440,647...86,492,716
JBrowse link
G KMT2A lysine methyltransferase 2A IMP human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) IMP human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019
JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 treatment IMP RGD PMID:20980434 RGD:7495806 NCBI chr17:21,284,711...21,315,240
Ensembl chr17:21,284,672...21,315,232
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 IMP RGD PMID:20980434 RGD:7495806 NCBI chr17:69,414,697...69,553,865
Ensembl chr17:69,414,697...69,553,865
JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 IEP mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr 6:30,699,807...30,717,281
Ensembl chr 6:30,699,807...30,717,447
JBrowse link
G MED4 mediator complex subunit 4 severity IEP mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131
JBrowse link
G MIR152 microRNA 152 IEP miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
JBrowse link
G MIR21 microRNA 21 severity IEP RGD PMID:32256824 RGD:40925949 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression IAGP DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP13 matrix metallopeptidase 13 IEP mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression IAGP DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IEP mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PGM3 phosphoglucomutase 3 IEP RGD PMID:508567 RGD:2299870 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,161,150...83,193,936
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase disease_progression IEP protein:decreased expression:uterine cervix (human) RGD PMID:28631565 RGD:13432557 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression IEP RGD PMID:16638855 RGD:2292556 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G RASSF1 Ras association domain family member 1 IDA associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
JBrowse link
G SMAD2 SMAD family member 2 IAGP DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMAD4 SMAD family member 4 IEP mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IEP mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility IAGP DNA:SNPs: : RGD PMID:18248301 PMID:12648582 RGD:6482260, RGD:6482272 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility IAGP DNA:SNPs: : RGD PMID:18248301 PMID:12648582 RGD:6482260, RGD:6482272 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression IEP mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G TNF tumor necrosis factor susceptibility IAGP DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a IMP RGD PMID:16271751 RGD:2290493 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:9407971 PMID:15982667 PMID:16754663 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TP73 tumor protein p73 susceptibility IAGP DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) RGD PMID:30420492 RGD:151347580 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G XRCC1 X-ray repair cross complementing 1 IAGP DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
JBrowse link
G ZFHX3 zinc finger homeobox 3 IEP mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871
JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STK11 serine/threonine kinase 11 disease_progression IAGP DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific disease_progression IEP protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G BAX BCL2 associated X, apoptosis regulator IEP protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression IEP DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity IEP mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,956,349
JBrowse link
G CD82 CD82 molecule IEP protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr11:44,564,409...44,620,358
Ensembl chr11:44,564,427...44,620,358
JBrowse link
G CSF1R colony stimulating factor 1 receptor IEP protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G FGF7 fibroblast growth factor 7 IEP cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association IAGP DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression IEP protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit IEP protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
JBrowse link
G FOXP3 forkhead box P3 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G PDPN podoplanin disease_progression IEP RGD PMID:16528371 RGD:2292237 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G SMAD3 SMAD family member 3 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IEP protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression IEP mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr12:49,741,557...49,764,934
Ensembl chr12:49,707,725...49,764,934
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,340...1,214,153
JBrowse link
G TNFSF4 TNF superfamily member 4 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G TP53 tumor protein p53 disease_progression IEP RGD PMID:17969407 RGD:2298526 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:16803522 RGD:2293719 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR21 microRNA 21 IEP RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 IAGP DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
JBrowse link
G BAG1 BAG cochaperone 1 IEP protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr 9:33,252,471...33,264,708
Ensembl chr 9:33,247,820...33,264,720
JBrowse link
G BAK1 BCL2 antagonist/killer 1 IAGP DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
JBrowse link
G CCND3 cyclin D3 IEP RGD PMID:14751136 RGD:2316013 NCBI chr 6:41,934,933...42,048,894
Ensembl chr 6:41,934,934...42,050,357
JBrowse link
G CD9 CD9 molecule disease_progression IEP RGD PMID:14695144 RGD:2326206 NCBI chr12:6,199,946...6,238,266
Ensembl chr12:6,199,715...6,238,271
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates IEP mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia
DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported
RGD PMID:10471491 PMID:11114733 RGD:2289864, RGD:2289865 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GSTM1 glutathione S-transferase mu 1 onset IAGP associated with Papillomavirus Infections;DNA:deletion:cds (human) RGD PMID:10813720 RGD:7495819 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion:cds (human) RGD PMID:10813720 RGD:7495819
G H19 H19 imprinted maternally expressed transcript IEP mRNA:decreased expression:uterine cervix RGD PMID:11997082 RGD:2306179 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,171...2,001,470
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression IEP RGD PMID:16803521 RGD:2300207 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
JBrowse link
G PTK2 protein tyrosine kinase 2 IEP protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
JBrowse link
G SPARC secreted protein acidic and cysteine rich IDA DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility IAGP DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TK1 thymidine kinase 1 IEP protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr17:78,174,079...78,187,204
Ensembl chr17:78,174,091...78,187,233
JBrowse link
G TSG101 tumor susceptibility 101 IDA mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple
RGD PMID:10600297 PMID:10505033 RGD:2291851, RGD:2291852 NCBI chr11:18,480,311...18,526,942
Ensembl chr11:18,468,336...18,526,951
JBrowse link
cervix uteri carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 IEP protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression IEP protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BRCA1 BRCA1 DNA repair associated IDA DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G CADM1 cell adhesion molecule 1 severity IEP RGD PMID:17009984 RGD:2289089 NCBI chr11:115,169,236...115,504,415
Ensembl chr11:115,169,218...115,504,957
JBrowse link
G CCND1 cyclin D1 IEP protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCNE1 cyclin E1 IEP protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
JBrowse link
G CCNG1 cyclin G1 IEP protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 5:163,437,571...163,457,640
Ensembl chr 5:163,437,569...163,446,151
JBrowse link
G CD274 CD274 molecule severity IEP associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G CD46 CD46 molecule IEP protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CDH1 cadherin 1 IDA DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression IEP associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression IEP associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression IDA
IEP
DNA:hypermethylation
protein:increased expression:uterine cervix
RGD PMID:16778587 PMID:17415114 PMID:17910346 PMID:16406113 RGD:2296054, RGD:2289676, RGD:2289675, RGD:2296058 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IEP protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression IEP protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression IEP protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IEP protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G FASLG Fas ligand IEP associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G HDAC1 histone deacetylase 1 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G HDAC2 histone deacetylase 2 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HDAC6 histone deacetylase 6 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP associated with Papillomavirus Infections RGD PMID:15458897 PMID:10073700 PMID:18351579 RGD:2306232, RGD:2314703, RGD:2306230 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
RGD PMID:14675666 PMID:17709267 RGD:2290021, RGD:2290004 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IL1B interleukin 1 beta susceptibility IAGP associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MGP matrix Gla protein IEP RGD PMID:17960611 RGD:2293584 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MLH1 mutL homolog 1 IEP protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression IEP protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MSH2 mutS homolog 2 IEP protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PDCD1 programmed cell death 1 severity IEP associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PHB1 prohibitin 1 IEP protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,049...49,414,905
JBrowse link
G POU4F1 POU class 4 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552
JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression IEP protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RB1 RB transcriptional corepressor 1 IEP associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression IEP protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr11:65,653,601...65,662,916
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G SKP2 S-phase kinase associated protein 2 severity IEP associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 disease_progression IEP associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression IEP protein:increased expression:nucleus
protein:increased serine phosphorylation:cervix epithelium
RGD PMID:17110342 PMID:16005944 RGD:2291916, RGD:2298536 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TERC telomerase RNA component disease_progression IAGP DNA:amplification:uterine cervix, epithelial cell RGD PMID:15793301 RGD:2291968 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase disease_progression IEP protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G THRB thyroid hormone receptor beta IAGP DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
G TLR9 toll like receptor 9 disease_progression IEP protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TOP2A DNA topoisomerase II alpha IEP RGD PMID:19051821 RGD:2315126 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896
JBrowse link
G TP63 tumor protein p63 disease_progression IEP RGD PMID:16804722 RGD:2315435 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TP73 tumor protein p73 disease_progression IEP mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G XIAP X-linked inhibitor of apoptosis IEP protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,724...123,913,976
JBrowse link
chorioamnionitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor IEP RGD PMID:22578261 RGD:6767308 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
RGD PMID:15547537 PMID:25687566 PMID:25011638 RGD:5128667, RGD:12792243, RGD:12791291 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G LTA lymphotoxin alpha severity IAGP associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MMP9 matrix metallopeptidase 9 severity IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G TGFB1 transforming growth factor beta 1 severity IEP protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNF tumor necrosis factor no_association
severity
IAGP associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
RGD PMID:15128916 PMID:15128916 RGD:12904055, RGD:12904055 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 IEP associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: RGD PMID:19591072 RGD:127229904 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 IEP protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G IGF2 insulin like growth factor 2 disease_progression IDA protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G INSR insulin receptor disease_progression IDA protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G PDGFB platelet derived growth factor subunit B IEP mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IEP DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
chronic cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL32 interleukin 32 treatment IDA associated with papillomavirus infectious disease RGD PMID:29362599 RGD:150340753 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
endometrial adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT1 angiopoietin 1 IEP protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055
JBrowse link
G ANGPT2 angiopoietin 2 IEP protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
JBrowse link
G ARID1A AT-rich interaction domain 1A treatment IMP human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G AXIN2 axin 2 IGI RGD PMID:11940574 RGD:13432156 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like disease_progression IEP RGD PMID:28654152 RGD:14394612 NCBI chr11:202,924...207,399
Ensembl chr11:167,784...207,399
JBrowse link
G CD55 CD55 molecule (Cromer blood group) IEP RGD PMID:11506079 RGD:2326173 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 IEP protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr 8:109,539,702...109,565,996
Ensembl chr 8:109,539,711...109,565,996
JBrowse link
G FOXO3 forkhead box O3 severity IEP associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
JBrowse link
G GPX3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
JBrowse link
G IRF1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit no_association IEP protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade RGD PMID:10684716 RGD:2290482 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) RGD PMID:10775052 RGD:1600499 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment IDA
IEP
human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)
RGD PMID:23402905 PMID:14760076 RGD:13703125, RGD:13703137 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment IDA
IEP
human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)
RGD PMID:23402905 PMID:14760076 RGD:13703125, RGD:13703137 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTGES prostaglandin E synthase IEP protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IEP mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335
JBrowse link
G TP53 tumor protein p53 disease_progression IEP
IAGP
protein:increased expression:endometrium
DNA:missense mutations
RGD PMID:1540970 PMID:1540970 RGD:2290541, RGD:2290541 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TSG101 tumor susceptibility 101 IDA mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr11:18,480,311...18,526,942
Ensembl chr11:18,468,336...18,526,951
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 IAGP associated with Obesity;DNA:polymorphism: :p.W64R (human) RGD PMID:15743038 RGD:2313164 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G AFP alpha fetoprotein severity IEP protein:increased expression:serum RGD PMID:17659325 RGD:2292039 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174
JBrowse link
G AKT2 AKT serine/threonine kinase 2 severity IAGP DNA:snp:intron:c.287+993G>A (rs892119) (human) RGD PMID:22146979 RGD:13432140 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
JBrowse link
G ANG angiogenin IEP protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
JBrowse link
G APC APC regulator of WNT signaling pathway severity
treatment
ISO
IEP
IAGP
IDA
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 chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 IAGP DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) RGD PMID:11465542 RGD:2315878 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
JBrowse link
G AR androgen receptor IAGP RGD PMID:15721279 RGD:1578689 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G ARID1A AT-rich interaction domain 1A onset HEP protein:decreased expression:endometrium (human) RGD PMID:23887303 RGD:126779522 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ATM ATM serine/threonine kinase susceptibility IAGP RGD PMID:17164260 RGD:2293868 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G BAD BCL2 associated agonist of cell death disease progression IAGP protein:altered expression:endometrium (human) RGD PMID:24645842 RGD:13432164 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G BAG1 BAG cochaperone 1 IEP protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chr 9:33,252,471...33,264,708
Ensembl chr 9:33,247,820...33,264,720
JBrowse link
G BCL2L1 BCL2 like 1 IEP protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BST2 bone marrow stromal cell antigen 2 treatment IMP
IEP
protein:increased expression:endometrium: RGD PMID:26498112 PMID:22729361 PMID:22729361 RGD:14398492, RGD:14398498, RGD:14398498 NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
JBrowse link
G CD59 CD59 molecule (CD59 blood group) IEP protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479
JBrowse link
G CD9 CD9 molecule IEP RGD PMID:11505398 RGD:2326208 NCBI chr12:6,199,946...6,238,266
Ensembl chr12:6,199,715...6,238,271
JBrowse link
G CDC25B cell division cycle 25B IEP RGD PMID:14559803 RGD:4105451 NCBI chr20:3,786,951...3,806,115
Ensembl chr20:3,786,772...3,806,121
JBrowse link
G CDC25C cell division cycle 25C IAGP DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
JBrowse link
G CDH1 cadherin 1 IAGP OMIM NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:deletions:exon (rat) RGD PMID:18558284 RGD:2316081 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CHI3L1 chitinase 3 like 1 severity IEP protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G COMT catechol-O-methyltransferase susceptibility
no_association
IAGP
IDA
DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter
RGD PMID:17442187 PMID:12810635 PMID:15285606 RGD:2289714, RGD:2289723, RGD:2289721 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) RGD PMID:18497059 RGD:2301045 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA) RGD PMID:18318428 RGD:2301040 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 IAGP DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) RGD PMID:18497059 RGD:2301045 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates
ameliorates
IEP
IMP
protein:decreased expression:endometrium (human)
human EFEMP2 knockdown cell line in a mouse model
RGD PMID:28177909 PMID:28177909 RGD:42722012, RGD:42722012 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
JBrowse link
G EGF epidermal growth factor severity IAGP DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISS OMIM:608089 MouseDO NCBI chr 1:8,011,727...8,026,309
Ensembl chr 1:8,004,404...8,026,309
JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression IEP mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression IEP mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G GHRH growth hormone releasing hormone IEP
IMP
mRNA:increased expression:tumor:expression in 17/22 specimens RGD PMID:10022420 PMID:15784701 RGD:2289974, RGD:2301423 NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819
JBrowse link
G HOXB13 homeobox B13 IEP RGD PMID:15756448 RGD:2314730 NCBI chr17:48,724,763...48,728,750
Ensembl chr17:48,724,763...48,728,750
JBrowse link
G HTRA2 HtrA serine peptidase 2 IEP protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350
JBrowse link
G IL10 interleukin 10 IEP protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G JAK1 Janus kinase 1 severity IAGP DNA:frameshift mutations RGD PMID:29121062 RGD:150524355 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,229...65,067,754
JBrowse link
G JUP junction plakoglobin IEP protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G LTA lymphotoxin alpha susceptibility IAGP DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MCPH1 microcephalin 1 IAGP DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508
JBrowse link
G MIR21 microRNA 21 IEP miRNA:increased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MLH3 mutL homolog 3 IAGP ClinVar Annotator: match by term: endometrial cancer OMIM
ClinVar
PMID:12702580 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532
JBrowse link
G MMP7 matrix metallopeptidase 7 disease_progression IEP protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP DNA:deletions:intron:IVS4_delT (human) RGD PMID:15048091 RGD:2317737 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
JBrowse link
G MSH3 mutS homolog 3 IAGP OMIM NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815
JBrowse link
G MSH6 mutS homolog 6 IAGP OMIM NCBI chr 2:47,783,145...47,806,953
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:11818965 PMID:12606733 PMID:15931596 PMID:15987719 PMID:16492921 More... NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G NOTCH1 notch receptor 1 IEP mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NOTCH4 notch receptor 4 IEP mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G PGM1 phosphoglucomutase 1 IAGP RGD PMID:508567 RGD:2299870 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta onset IEP mRNA:increased expression:endometrium (human) RGD PMID:28002804 RGD:13674181 NCBI chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,698...138,834,928
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IGI RGD PMID:21478295 RGD:13441595 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,651,731...9,729,114
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit disease_progression
ameliorates
onset
HEP
IAGP
protein:increased expression:endometrium (human)
DNA:missense mutations:CDS:p.P286R, p.V411L (human)
DNA:missense mutations:multiple (human)
DNA:polymorphisms:multiple (human)
RGD PMID:31866764 PMID:29659608 PMID:29559562 PMID:25224212 RGD:151347644, RGD:151347857, RGD:151347650, RGD:151347645 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G PTEN phosphatase and tensin homolog ISS OMIM:608089 MouseDO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RNF43 ring finger protein 43 IAGP DNA:mutations:multiple: (human) RGD PMID:25344691 RGD:151361224 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G RUNX1 RUNX family transcription factor 1 IEP mRNA:decreased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SHBG sex hormone binding globulin IAGP DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382
JBrowse link
G SMAD2 SMAD family member 2 IEP protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMAD3 SMAD family member 3 IEP protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G SMAD7 SMAD family member 7 disease_progression IEP mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965
JBrowse link
G SOCS2 suppressor of cytokine signaling 2 IDA DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr12:93,569,969...93,626,236
Ensembl chr12:93,569,814...93,583,487
JBrowse link
G SPAG9 sperm associated antigen 9 IEP protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr17:50,962,174...51,120,868
Ensembl chr17:50,962,174...51,120,868
JBrowse link
G STK11 serine/threonine kinase 11 ISO
ISS
IEP
OMIM:608089 MouseDO
RGD
PMID:18245476 PMID:18245476 RGD:2291944, RGD:2291944 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G SULT1A1 sulfotransferase family 1A member 1 IAGP RGD PMID:16985250 RGD:1581436 NCBI chr16:28,605,258...28,623,375
Ensembl chr16:28,603,944...28,623,625
JBrowse link
G SULT1E1 sulfotransferase family 1E member 1 IAGP DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT) RGD PMID:18318428 RGD:2301040 NCBI chr 4:69,821,122...69,860,145
Ensembl chr 4:69,841,212...69,860,145
JBrowse link
G TFF1 trefoil factor 1 IEP mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 IEP mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TP53 tumor protein p53 ISS OMIM:608089 MouseDO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TYMP thymidine phosphorylase IEP RGD PMID:18348659 RGD:2293715 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 IAGP DNA:SNP: :rs2070959 (human) RGD PMID:18349273 RGD:2315450 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link
G WT1 WT1 transcription factor disease_progression IEP RGD PMID:19443388 RGD:2315542 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G APC APC regulator of WNT signaling pathway onset IAGP
ISO
DNA:hypermethylation:promoter: (human)
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:19900189 PMID:21363919 RGD:13524625, RGD:13525011 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:28492532 NCBI chr14:74,661,256...74,713,080
Ensembl chr14:74,653,437...74,713,117
JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:24728327 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G AURKA aurora kinase A IEP mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337
JBrowse link
G AURKB aurora kinase B disease_progression IEP mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr17:8,204,731...8,210,575
Ensembl chr17:8,204,733...8,210,600
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Endometrial carcinoma
ClinVar
RGD
PMID:28492532 PMID:16144912 RGD:13432166 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7581445 PMID:10667592 PMID:10667595 PMID:12566964 PMID:12955716 More... NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20104584 PMID:22476429 PMID:22703879 PMID:24448499 PMID:24916970 More... NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRICD5 BRICHOS domain containing 5 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,209,253...2,210,863
Ensembl chr16:2,209,253...2,210,905
JBrowse link
G BSG basigin (Ok blood group) disease_progression IEP protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25741868 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
JBrowse link
G CASKIN1 CASK interacting protein 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605
JBrowse link
G CCNB1 cyclin B1 IEP RGD PMID:17483252 RGD:2289230 NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245
JBrowse link
G CD82 CD82 molecule disease_progression IEP RGD PMID:12684410 RGD:2289403 NCBI chr11:44,564,409...44,620,358
Ensembl chr11:44,564,427...44,620,358
JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8075649 PMID:11598162 PMID:11747475 PMID:12588804 PMID:14500541 More... NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDH13 cadherin 13 disease_progression IDA DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chr16:82,626,969...83,800,640
Ensembl chr16:82,626,965...83,800,640
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25186627 PMID:25741868 PMID:26094658 PMID:26467025 PMID:28492532 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G DHFR dihydrofolate reductase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711
JBrowse link
G E4F1 E4F transcription factor 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,223,591...2,235,742
Ensembl chr16:2,223,580...2,235,742
JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,239,402...2,251,587
Ensembl chr16:2,239,402...2,252,300
JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 disease_progression IEP RGD PMID:15741767 RGD:2315693 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FGF7 fibroblast growth factor 7 IEP mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7719344 PMID:8651276 PMID:8696350 PMID:9462761 PMID:9719378 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GRB2 growth factor receptor bound protein 2 severity IEP Shc-Grb2 complex;protein:increased expression:serum (human) RGD PMID:22459351 RGD:13441552 NCBI chr17:75,318,076...75,405,678
Ensembl chr17:75,318,076...75,405,709
JBrowse link
G GSK3B glycogen synthase kinase 3 beta severity IEP protein:increased expression:endometrium (human) RGD PMID:27050373 RGD:13524565 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G H19 H19 imprinted maternally expressed transcript severity IEP mRNA:increased expression:endometrium RGD PMID:15228427 RGD:2306178 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,171...2,001,470
JBrowse link
G HDAC3 histone deacetylase 3 disease_progression IEP RGD PMID:18714364 RGD:2306205 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
JBrowse link
G HRAS HRas proto-oncogene, GTPase disease_progression IEP
IAGP
protein:increased expression:endometrial stroma, cytoplasm (human)
DNA:snps:cds: (human)
RGD PMID:9641239 PMID:8960147 RGD:13441555, RGD:13781876 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit disease_progression IEP protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027) RGD PMID:15800680 RGD:2290481 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
JBrowse link
G KISS1 KiSS-1 metastasis suppressor disease_progression IEP mRNA:decreased expression:endometrium RGD PMID:15949424 RGD:2302170 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LOC112340386 Sharpr-MPRA regulatory region 11897 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,212,448...2,212,742 JBrowse link
G LOC112340387 Sharpr-MPRA regulatory region 5944 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,214,948...2,215,242 JBrowse link
G LOC116158483 CRISPRi-validated cis-regulatory element chr4.260 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,784,888...1,786,262 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 severity IEP protein:increased expression:endometrium (human)
protein:increased phosphorylation:endometrium (human)
RGD PMID:29081408 PMID:22459351 RGD:13702082, RGD:13441552 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 severity IEP protein:increased expression:endometrium (human)
protein:increased phosphorylation:endometrium (human)
RGD PMID:29081408 PMID:22459351 RGD:13702082, RGD:13441552 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284
JBrowse link
G MIR152 microRNA 152 IDA DNA:hypermethylation RGD PMID:21327300 RGD:21066329 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
JBrowse link
G MIR3180-5 microRNA 3180-5 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,135,977...2,136,129
Ensembl chr16:2,135,977...2,136,129
JBrowse link
G MIR3677 microRNA 3677 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,270,713...2,270,772
Ensembl chr16:2,270,713...2,270,772
JBrowse link
G MIR3677HG MIR3677 and MIR940 host gene IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,268,663...2,273,072
Ensembl chr16:2,268,155...2,273,418
JBrowse link
G MIR4516 microRNA 4516 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,133,119...2,133,204
Ensembl chr16:2,133,119...2,133,204
JBrowse link
G MIR4717 microRNA 4717 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,274,620...2,274,691
Ensembl chr16:2,274,620...2,274,691
JBrowse link
G MIR6511B1 microRNA 6511b-1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,106,669...2,106,753
Ensembl chr16:2,106,669...2,106,753
JBrowse link
G MIR940 microRNA 940 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,271,747...2,271,840
Ensembl chr16:2,271,747...2,271,840
JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8566964 PMID:8574961 PMID:8592341 PMID:9526167 PMID:9697702 More... NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MLH3 mutL homolog 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,205,454...2,209,453
Ensembl chr16:2,204,248...2,209,453
JBrowse link
G MMP8 matrix metallopeptidase 8 IEP RGD PMID:10502722 RGD:2306086 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression IEP protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1586275 PMID:7585065 PMID:9536098 PMID:9718327 PMID:12115348 More... NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH3 mutS homolog 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
RGD
PMID:8782829 PMID:9536098 PMID:11470537 PMID:17576681 PMID:25741868 More... RGD:1600456 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815
JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:3195077 PMID:8063241 PMID:9536098 PMID:9774676 PMID:10471527 More... NCBI chr 2:47,783,145...47,806,953
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:11818965 PMID:12606733 PMID:16140997 PMID:16338133 PMID:16492921 More... NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G NCOA1 nuclear receptor coactivator 1 IEP mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr 2:24,491,254...24,770,702
Ensembl chr 2:24,491,254...24,770,702
JBrowse link
G NCOR2 nuclear receptor corepressor 2 IEP mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr12:124,324,415...124,567,612
Ensembl chr12:124,324,415...124,567,589
JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression IEP protein:increased expression:endometrium RGD PMID:9276029 RGD:2292090 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:17200668 PMID:20091115 PMID:21285249 PMID:21365267 PMID:22241545 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G PGP phosphoglycolate phosphatase IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP DNA:mutations:multiple (human) RGD PMID:23636398 RGD:13628733 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD1-AS1 PKD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,091,436...2,095,017
Ensembl chr16:2,091,436...2,095,433
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 More... NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,106
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12376507 PMID:17145065 PMID:25529843 PMID:25741868 PMID:26467025 More... NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Endometrial carcinoma
DNA:mutations:multiple (human)
ClinVar
RGD
PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532 PMID:23528559 RGD:151347856 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G PRKCA protein kinase C alpha IEP RGD PMID:11371124 RGD:2292462 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1945792 PMID:7728760 PMID:8980400 PMID:9326929 PMID:9536098 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression IEP RGD PMID:18416056 RGD:2300125 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
JBrowse link
G PTK2 protein tyrosine kinase 2 severity IEP protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
JBrowse link
G RAB26 RAB26, member RAS oncogene family IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165
JBrowse link
G RAD51C RAD51 paralog C IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RASSF1 Ras association domain family member 1 IDA DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,253,116...2,268,126
Ensembl chr16:2,253,116...2,268,397
JBrowse link
G RUNX3 RUNX family transcription factor 3 IAGP DNA:promoter:hypermethylated RGD PMID:18572225 RGD:2302555 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SFN stratifin IEP RGD PMID:16271083 RGD:2299931 NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
JBrowse link
G SMAD4 SMAD family member 4 severity IAGP
IEP
DNA:substitutions:promoter
mRNA:decreased expression:endometrium
RGD PMID:10331746 PMID:15385128 RGD:2300009, RGD:2299966 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SNHG19 small nucleolar RNA host gene 19 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,154,782...2,155,358
Ensembl chr16:2,154,792...2,155,405
JBrowse link
G SNORD60 small nucleolar RNA, C/D box 60 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,155,023...2,155,105
Ensembl chr16:2,155,023...2,155,105
JBrowse link
G SPARC secreted protein acidic and cysteine rich IDA DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 4:1,721,521...1,745,171
Ensembl chr 4:1,712,858...1,745,171
JBrowse link
G TFF1 trefoil factor 1 disease_progression IEP protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 disease_progression IEP protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression IEP mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression IEP protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G TP53 tumor protein p53 severity IEP
IAGP
ISO
protein:increased expression:epithelial cell, endometrium
ClinVar Annotator: match by term: Endometrial carcinoma
DNA:mutations: :
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:18431720 PMID:26353976 RGD:2298525, RGD:11075084 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G WNT2 Wnt family member 2 IEP mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 7:117,275,451...117,323,058
Ensembl chr 7:117,275,451...117,323,152
JBrowse link
G WNT3 Wnt family member 3 IEP mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr17:46,830,790...46,833,102
Ensembl chr17:46,762,506...46,833,154
JBrowse link
G WNT4 Wnt family member 4 IEP mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
JBrowse link
G WNT5A Wnt family member 5A IEP mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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 IEP protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G CA9 carbonic anhydrase 9 IEP protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159
JBrowse link
G CDC25B cell division cycle 25B IEP protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr20:3,786,951...3,806,115
Ensembl chr20:3,786,772...3,806,121
JBrowse link
G CDC25C cell division cycle 25C IEP RGD PMID:12931023 RGD:4105452 NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 1:109,249,539...109,275,751
Ensembl chr 1:109,249,539...109,275,751
JBrowse link
G CSRP1 cysteine and glycine rich protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 1:201,483,530...201,507,123
Ensembl chr 1:201,483,530...201,509,456
JBrowse link
G DDX1 DEAD-box helicase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 2:15,591,868...15,631,101
Ensembl chr 2:15,591,178...15,634,346
JBrowse link
G H19 H19 imprinted maternally expressed transcript IEP mRNA:altered localization:endometrium RGD PMID:15228427 RGD:2306178 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,171...2,001,470
JBrowse link
G JUP junction plakoglobin IEP protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP RGD PMID:19419940 RGD:2314912 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MMP7 matrix metallopeptidase 7 IEP protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTK2 protein tyrosine kinase 2 IEP protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
JBrowse link
G SKP2 S-phase kinase associated protein 2 IEP associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G TFF1 trefoil factor 1 IEP protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23146748 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
JBrowse link
G AKR1B10 aldo-keto reductase family 1 member B10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23146748 NCBI chr 7:134,527,567...134,541,412
Ensembl chr 7:134,527,567...134,541,412
JBrowse link
G AKR1C1 aldo-keto reductase family 1 member C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16338060 NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283
JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16338060 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686
JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 IEP protein:increased expression:endometrium RGD PMID:17988723 RGD:2315651 NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672
JBrowse link
G APC APC regulator of WNT signaling pathway ISO RGD PMID:24474556 RGD:13524584 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ATR ATR serine/threonine kinase IAGP ClinVar Annotator: match by term: Endometrial neoplasm ClinVar PMID:19470935 PMID:21228398 PMID:23144622 PMID:28492532 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G BCL2 BCL2 apoptosis regulator severity IEP RGD PMID:18386458 RGD:2298890 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19363521 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G CALB2 calbindin 2 IEP protein:decreased expression:endometrium RGD PMID:18604736 RGD:2315881 NCBI chr16:71,358,723...71,390,433
Ensembl chr16:71,358,713...71,390,436
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCND1 cyclin D1 IEP
EXP
protein:increased expression:endometrium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29232554 PMID:18306533 RGD:2296034 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CD44 CD44 molecule (Indian blood group) disease_progression IEP
IDA
protein:decreased expression:endometrium
mRNA, protein:splice variant, increased expression:endometrium
RGD PMID:14658589 PMID:16308159 RGD:2296044, RGD:2289358 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G CD46 CD46 molecule IEP protein:increased expression:tumor:versus benign endometrium (p<0.0001) RGD PMID:10637067 RGD:2293548 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CDH1 cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8075649 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDK2 cyclin dependent kinase 2 disease_progression IEP protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression IEP protein:increased expression:endometrium RGD PMID:14648178 RGD:2299055 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A susceptibility IAGP
IEP
DNA:polymorphism:cds:p.S31R
protein:increased expression:endometrium
RGD PMID:15099969 PMID:16837908 RGD:2296047, RGD:2289683 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IEP protein:decreased expression:endometrium RGD PMID:15188025 RGD:2299090 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A severity IEP protein:increased expression:endometrium RGD PMID:16837908 RGD:2289683 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
JBrowse link
G CHFR checkpoint with forkhead and ring finger domains EXP CTD Direct Evidence: marker/mechanism CTD PMID:17143476 NCBI chr12:132,832,356...132,887,618
Ensembl chr12:132,822,187...132,956,304
JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29805589 PMID:32751388 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
JBrowse link
G CNR2 cannabinoid receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29805589 NCBI chr 1:23,870,515...23,913,362
Ensembl chr 1:23,870,515...23,913,362
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression IEP RGD PMID:16803534 RGD:2298485 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
JBrowse link
G CTNNB1 catenin beta 1 disease_progression TAS
IAGP
IEP
ClinVar Annotator: match by term: Endometrial neoplasm
protein:increased expression:nucleus
ClinVar
RGD
PMID:9065402 PMID:9294210 PMID:10192393 PMID:25157968 PMID:25741868 More... RGD:4143515, RGD:2289828, RGD:2298485 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
JBrowse link
G DCN decorin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr12:91,140,484...91,182,817
Ensembl chr12:91,140,484...91,183,217
JBrowse link
G DNMT1 DNA methyltransferase 1 IEP mRNA,protein:decreased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IEP mRNA,protein:decreased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G EGF epidermal growth factor severity IEP protein:increased expression:plasma (human) RGD PMID:25416211 RGD:13432197 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 severity
disease_progression
IAGP
TAS
IEP
DNA:amplification RGD PMID:17945336 PMID:19078924 PMID:18202752 RGD:2298491, RGD:4143515, RGD:2298490 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IEP protein:increased expression:endometrium RGD PMID:10537356 RGD:2298505 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IEP protein:increased expression:endometrium RGD PMID:10537356 RGD:2298505 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:polymorphism:exon:p.R156R(human) RGD PMID:26349749 RGD:12880439 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ESR1 estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185510 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25437045 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:21903722 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 susceptibility IAGP
EXP
DNA:mutations
ClinVar Annotator: match by term: Endometrial neoplasm
CTD Direct Evidence: marker/mechanism
DNA:SNP
ClinVar
CTD
RGD
PMID:7719344 PMID:8651276 PMID:8696350 PMID:9462761 PMID:9719378 More... RGD:2301189, RGD:2301188 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase IEP 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 chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity
disease_progression
IEP mRNA, protein:increased expression:endometrium RGD PMID:12485477 PMID:10831352 RGD:2301252, RGD:2301256 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment IMP human cells in a mouse xenograft model RGD PMID:23941783 RGD:13441554 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G HDAC1 histone deacetylase 1 disease_progression IEP RGD PMID:18714364 RGD:2306205 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G HDAC2 histone deacetylase 2 disease_progression IEP RGD PMID:18714364 RGD:2306205 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HOXA10 homeobox A10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21670700 NCBI chr 7:27,170,605...27,179,861
Ensembl chr 7:27,170,605...27,180,261
JBrowse link
G HOXA11 homeobox A11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232
JBrowse link
G HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr16:82,035,253...82,098,534
Ensembl chr16:82,035,004...82,098,534
JBrowse link
G IGF1R insulin like growth factor 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21442237 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP 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 chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G INHA inhibin subunit alpha IEP mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IEP RGD PMID:18691378 RGD:2299152 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G JAZF1 JAZF zinc finger 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18264096 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
JBrowse link
G KDR kinase insert domain receptor disease_progression IEP mRNA:increased expression:endometrium RGD PMID:12485477 PMID:11745191 RGD:2301252, RGD:2301760 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRAS KRAS proto-oncogene, GTPase TAS
IAGP
RGD PMID:19078924 PMID:19960433 RGD:4143515, RGD:2314907 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LASP1 LIM and SH3 protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28232485 NCBI chr17:38,870,058...38,921,770
Ensembl chr17:38,869,859...38,921,770
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase IEP RGD PMID:15491750 RGD:2314921 NCBI chr 5:96,936,080...97,037,513
Ensembl chr 5:96,935,394...97,037,513
JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr 6:160,991,769...161,117,380
Ensembl chr 6:160,991,727...161,117,385
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment IDA RGD PMID:24917306 RGD:13441559 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO DNA:amplification RGD PMID:11719459 RGD:70557 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MIR200C microRNA 200c EXP CTD Direct Evidence: marker/mechanism CTD PMID:22569286 NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766
JBrowse link
G MLH1 mutL homolog 1 TAS RGD PMID:19078924 RGD:4143515 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MLH3 mutL homolog 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression IEP protein:increased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MSH2 mutS homolog 2 IAGP
IEP
DNA, protein:mutation, decreased expression:endometrium RGD PMID:17925543 PMID:11920468 RGD:2298951, RGD:2293523 NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH3 mutS homolog 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815
JBrowse link
G MSH6 mutS homolog 6 TAS
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10508506 PMID:19078924 RGD:4143515 NCBI chr 2:47,783,145...47,806,953
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17301261 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26656844 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NCAPG non-SMC condensin I complex subunit G EXP CTD Direct Evidence: marker/mechanism CTD PMID:34480403 NCBI chr 4:17,810,979...17,844,865
Ensembl chr 4:17,810,979...17,844,865
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20530669 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27348297 NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase no_association IAGP DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:22271435 PMID:22544315 RGD:8657377, RGD:8657379 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PAWR pro-apoptotic WT1 regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:15877079 NCBI chr12:79,584,879...79,690,964
Ensembl chr12:79,574,979...79,690,964
JBrowse link
G PGR progesterone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr11:101,029,624...101,129,813
Ensembl chr11:101,029,624...101,129,813
JBrowse link
G PHB1 prohibitin 1 IEP protein:increased expression:endometrium RGD PMID:10421803 RGD:2292406 NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,049...49,414,905
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha TAS RGD PMID:19078924 RGD:4143515 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta IEP mRNA:increased expression:endometrium (human) RGD PMID:17427168 RGD:13441594 NCBI chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,698...138,834,928
JBrowse link
G PLXNA3 plexin A3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:23263490 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G PTEN phosphatase and tensin homolog severity IEP
TAS
IAGP
EXP
protein:decreased expression:endometrium
DNA:loss of heterozygosity:cds: (human)
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9326929 PMID:12888921 PMID:16402032 PMID:16804899 PMID:17317031 More... RGD:2292506, RGD:4143515, RGD:12832746, RGD:12832753 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression IEP RGD PMID:18416056 RGD:2300125 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RB1 RB transcriptional corepressor 1 IEP RGD PMID:14648178 RGD:2299055 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RNF144B ring finger protein 144B EXP CTD Direct Evidence: marker/mechanism CTD PMID:29724995 NCBI chr 6:18,387,350...18,468,870
Ensembl chr 6:18,387,350...18,468,870
JBrowse link
G RNF43 ring finger protein 43 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25344691 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G SEMA3B semaphorin 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr 3:50,267,652...50,277,546
Ensembl chr 3:50,267,558...50,277,546
JBrowse link
G SEMA3F semaphorin 3F EXP CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075
JBrowse link
G SIX1 SIX homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27259717 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
JBrowse link
G SKP2 S-phase kinase associated protein 2 IEP RGD PMID:15220466 RGD:2315045 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IEP RGD PMID:9891532 RGD:2300389 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
JBrowse link
G SPOP speckle type BTB/POZ protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21072693 NCBI chr 1:23,964,347...23,980,327
Ensembl chr 1:23,964,347...23,980,927
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase disease_progression IEP protein:increased expression:endometrium RGD PMID:19443387 RGD:2315087 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362
JBrowse link
G STAR steroidogenic acute regulatory protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP protein:increased tyrosine phosphorylation:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G SULT1A1 sulfotransferase family 1A member 1 no_association IAGP DNA:SNP::no difference in allele distribution or genotype between patients and controls
DNA:SNP:CDS, 3'-UTR:rs9282861, rs6839 and rs1042157, alone or in combination with each other, also rs9282861 (GA + AA) combined with CYP1A1 SNP rs4646903 (TT) or with SULT1E1 SNP rs3736599 (GA+AA)
RGD PMID:18497059 PMID:18318428 RGD:2301045, RGD:2301040 NCBI chr16:28,605,258...28,623,375
Ensembl chr16:28,603,944...28,623,625
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25437045 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:18264096 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G TERT telomerase reverse transcriptase IEP mRNA:increased expression:endometrium RGD PMID:11078809 RGD:2298562 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 disease_progression IEP protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G TNFSF10 TNF superfamily member 10 EXP CTD Direct Evidence: therapeutic CTD PMID:20071162 NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475
JBrowse link
G TP53 tumor protein p53 TAS
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7955072 PMID:19078924 RGD:4143515 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TP73 tumor protein p73 susceptibility IAGP DNA:hypermethylation
DNA:polymorphism:exon
RGD PMID:16928264 PMID:15723718 RGD:2290585, RGD:2298528 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32751388 NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411
JBrowse link
G TRPV2 transient receptor potential cation channel subfamily V member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32751388 NCBI chr17:16,415,571...16,437,003
Ensembl chr17:16,415,571...16,437,003
JBrowse link
G TSPYL2 TSPY like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr  X:53,082,367...53,088,540
Ensembl chr  X:53,082,367...53,088,540
JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18622689 NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814
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 IAGP ClinVar Annotator: match by term: Endometrial serous adenocarcinoma ClinVar NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility IAGP DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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 IEP protein:increased expression:tumor:increased in 6/8 (75%) of tumors RGD PMID:17367465 RGD:2292170 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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 IAGP ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G APC APC regulator of WNT signaling pathway IEP
IAGP
mRNA, protein:decreased expression:endometrium (human)
DNA:hypermethylation: (human)
RGD PMID:18570730 PMID:18570730 RGD:13432144, RGD:13432144 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G AREG amphiregulin IEP mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
JBrowse link
G ATP7B ATPase copper transporting beta disease_progression IEP protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 IEP protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G BMP4 bone morphogenetic protein 4 IEP RGD PMID:12782598 RGD:2296026 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CA9 carbonic anhydrase 9 IEP protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159
JBrowse link
G CCNE1 cyclin E1 IEP protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
JBrowse link
G CDH1 cadherin 1 IEP protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDK2 cyclin dependent kinase 2 severity IEP RGD PMID:9673386 RGD:2298990 NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IEP RGD PMID:17985331 RGD:2299091 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility IAGP RGD PMID:17164260 RGD:2293868 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CTNNB1 catenin beta 1 IAGP DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DAXX death domain associated protein IEP protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
JBrowse link
G DNMT1 DNA methyltransferase 1 IEP mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IEP mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G EGFR epidermal growth factor receptor IEP
IAGP
mRNA:decreased expression:endometrium
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar
RGD
PMID:22885469 PMID:16962163 RGD:2289950 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ENO2 enolase 2 IEP RGD PMID:18156975 RGD:2293737 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IEP RGD PMID:16962163 RGD:2289950 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IEP RGD PMID:16962163 RGD:2289950 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IEP RGD PMID:16962163 RGD:2289950 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G ESR1 estrogen receptor 1 severity IEP protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP 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
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar
RGD
PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 More... RGD:2289862 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression IEP RGD PMID:17952116 RGD:2301465 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G INHA inhibin subunit alpha IEP protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue RGD PMID:17143484 RGD:2290368 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711
JBrowse link
G INHBA inhibin subunit beta A IEP protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
JBrowse link
G KDR kinase insert domain receptor severity IEP protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) RGD PMID:16557278 RGD:2291929 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase IEP associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 5:96,936,080...97,037,513
Ensembl chr 5:96,935,394...97,037,513
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment IDA RGD PMID:24917306 RGD:13441559 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment IDA RGD PMID:24917306 RGD:13441559 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MSLN mesothelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G NKX2-1 NK2 homeobox 1 IDA DNA:hypermethylation RGD PMID:17504987 RGD:2290483 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IEP protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:21984976 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ameliorates IAGP DNA:mutations:multiple (human) RGD PMID:29505428 RGD:151347648 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G PTEN phosphatase and tensin homolog IAGP DNA:mutations: :multiple
DNA:loss of heterozygosity, mutations:multiple (human)
RGD PMID:17418409 PMID:11156411 RGD:2289817, RGD:12802357 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SPP1 secreted phosphoprotein 1 IDA RGD PMID:16633066 RGD:1581360 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IEP associated with Ovarian Neoplasms;protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362
JBrowse link
G WIF1 WNT inhibitory factor 1 IEP mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr12:65,050,626...65,121,305
Ensembl chr12:65,050,626...65,121,305
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:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G DNMT1 DNA methyltransferase 1 IEP protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IEP protein:decreased expression:endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IEP protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
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 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CASP6 caspase 6 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 4:109,664,388...109,709,767
Ensembl chr 4:109,688,622...109,703,583
JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:endometrium RGD PMID:25330821 RGD:11059518 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:31365951 RGD:126928127 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
JBrowse link
G TNRC6C trinucleotide repeat containing adaptor 6C IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr17:77,957,557...78,108,835
Ensembl chr17:77,958,703...78,108,822
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 More... NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:22158547 PMID:24033266 PMID:25741868 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB1 calcium and integrin binding 1 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 More... NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOH ras homolog family member H susceptibility IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM
PMID:22850876 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,053...40,246,967
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL7 interleukin 7 susceptibility IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
JBrowse link
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP7 NLR family pyrin domain containing 7 IEA OMIM:231090 MouseDO NCBI chr19:54,923,509...54,947,505
Ensembl chr19:54,923,509...54,966,312
JBrowse link
G POU5F1 POU class 5 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731
JBrowse link
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHML CHM like Rab escort protein IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,628,851...241,640,369
Ensembl chr 1:241,628,851...241,640,369
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
JBrowse link
G EXO1 exonuclease 1 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,847,986...241,889,939
Ensembl chr 1:241,847,967...241,895,148
JBrowse link
G FH fumarate hydratase IAGP
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
ClinVar
CTD
OMIM
RGD
PMID:2314594 PMID:9300800 PMID:9635293 PMID:10896297 PMID:11865300 More... RGD:1598939 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
JBrowse link
G FMN2 formin 2 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,091,883...240,475,187
Ensembl chr 1:240,014,348...240,475,187
JBrowse link
G GREM2 gremlin 2, DAN family BMP antagonist IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,489,573...240,612,155
Ensembl chr 1:240,489,573...240,612,155
JBrowse link
G KMO kynurenine 3-monooxygenase IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,532,378...241,595,642
Ensembl chr 1:241,532,134...241,595,642
JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,995,490...242,001,393
Ensembl chr 1:241,995,490...241,999,098
JBrowse link
G OPN3 opsin 3 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,593,124...241,640,369
Ensembl chr 1:241,590,102...241,677,376
Ensembl chr 1:241,590,102...241,677,376
JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697
JBrowse link
G RGS7 regulator of G protein signaling 7 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,774,742...241,357,230
Ensembl chr 1:240,767,636...241,357,374
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G WDR64 WD repeat domain 64 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,652,281...241,802,777
Ensembl chr 1:241,652,278...241,802,777