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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:Pathological processes involving any part of the UTERUS.
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 ISO CTD Direct Evidence: therapeutic CTD PMID:20146381 NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640
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 treatment
severity
ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA, protein:increased expression:endometrium RGD PMID:31596310 RGD:126925216 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G CD8A CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G IL10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL12B interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,331,243...9,360,461
Ensembl chr  X:9,314,815...9,359,603
JBrowse link
G TLR8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,381,159...9,399,938 JBrowse link
G TLR9 toll like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
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 ISO RGD PMID:2258083 RGD:2300391 NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706
JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G API5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr18:26,326,387...26,355,580
Ensembl chr18:26,327,920...26,355,585
JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
JBrowse link
G BRCA1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Cancer of cervix ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 PMID:31214711 PMID:32566746 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G BSG basigin disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CCNB1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr 2:54,256,957...54,264,749 JBrowse link
G CD55 CD55 molecule ISO RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226
JBrowse link
G CDC25A cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608
JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744
JBrowse link
G CDH13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255
JBrowse link
G CDK1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197
JBrowse link
G DLA-64 MHC class I DLA-64 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7 RGD PMID:12543794 RGD:2314696 NCBI chr12:983,573...986,969 JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G FANCA FA complementation group A no_association ISO DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
DNA:SNP: :rs11649196 (human)
RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Cervical cancer
ClinVar Annotator: match by term: Cancer of cervix
ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G HOXB13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL1B interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G KDM3A lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr17:38,690,962...38,744,507
Ensembl chr17:38,690,979...38,743,739
JBrowse link
G KMT2A lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr18:15,240,631...15,332,850
Ensembl chr18:15,239,994...15,332,828
JBrowse link
G LOC475399 heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr15:18,239,810...18,299,065 JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026
JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr12:496,353...509,812
Ensembl chr12:496,878...507,442
JBrowse link
G MED4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:32256824 RGD:40925949 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase disease_progression ISO protein:decreased expression:uterine cervix (human) RGD PMID:28631565 RGD:13432557 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
JBrowse link
G RASSF1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
JBrowse link
G SMAD2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:25741868 PMID:28492532 PMID:30374176 PMID:30816478 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033
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 ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
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 ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G FGF7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G PDPN podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
JBrowse link
G SMAD3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
JBrowse link
G TNFSF4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018
JBrowse link
G CCND3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891
JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO 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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TK1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064
JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple
RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808
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 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 5:17,865,317...18,190,855
Ensembl chr 5:17,864,453...18,194,694
JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211
JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G CDH1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547
JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO associated with Papillomavirus Infections RGD PMID:10073700 PMID:15458897 PMID:18351579 RGD:2306230 RGD:2306232 RGD:2314703 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL1B interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G LOC100856382 matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673
JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G PDCD1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PHB prohibitin ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr22:31,992,657...31,997,066 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 disease_progression ISO associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus
RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283
JBrowse link
G TLR9 toll like receptor 9 disease_progression ISO protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496
JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582
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 ISO RGD PMID:22578261 RGD:6767308 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G B9D2 B9 domain containing 2 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :
RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G LOC479260 mannose-binding protein A susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G LTA lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G TNF tumor necrosis factor severity
no_association
ISO associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
RGD PMID:15128916 RGD:12904055 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ISO associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: RGD PMID:19591072 RGD:127229904 NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
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 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G INSR insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
endometrial adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT1 angiopoietin 1 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
JBrowse link
G ARID1A AT-rich interaction domain 1A treatment ISO human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G AXIN2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299
JBrowse link
G CD55 CD55 molecule ISO RGD PMID:11506079 RGD:2326173 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501
JBrowse link
G FOXO3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198
JBrowse link
G GPX3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G IRF1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit no_association ISO protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade RGD PMID:10684716 RGD:2290482 NCBI chr 5:50,966,698...50,968,939 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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO protein:decreased phosphorylation:endometrium (human)
human tumor in a mouse model
RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)
RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232
JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939
JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr 6:57,025,096...57,220,240
Ensembl chr 6:57,025,112...57,217,121
JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:missense mutations
protein:increased expression:endometrium
RGD PMID:1540970 RGD:2290541 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808
JBrowse link
endometrial cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 susceptibility ISO associated with Obesity;DNA:polymorphism: :p.W64R (human) RGD PMID:15743038 RGD:2313164 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521
JBrowse link
G AFP alpha fetoprotein severity ISO protein:increased expression:serum RGD PMID:17659325 RGD:2292039 NCBI chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G AKT2 AKT serine/threonine kinase 2 severity ISO DNA:snp:intron:c.287+993G>A (rs892119) (human) RGD PMID:22146979 RGD:13432140 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131
JBrowse link
G APC APC regulator of WNT signaling pathway treatment
severity
ISO human cells in a mouse model
protein:increased expression:endometrium (human)
DNA:mutations, haplotype:cds:multiple (human)
with Pten knockout
RGD PMID:15951972 PMID:22907428 PMID:23288720 PMID:29876005 RGD:13524585 RGD:13524624 RGD:13673916 RGD:13673917 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) RGD PMID:11465542 RGD:2315878 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G AR androgen receptor ISO RGD PMID:15721279 RGD:1578689 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912
JBrowse link
G ARID1A AT-rich interaction domain 1A onset ISO protein:decreased expression:endometrium (human) RGD PMID:23887303 RGD:126779522 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G BAD BCL2 associated agonist of cell death disease progression ISO protein:altered expression:endometrium (human) RGD PMID:24645842 RGD:13432164 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581
JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BST2 bone marrow stromal cell antigen 2 treatment ISO protein:increased expression:endometrium: RGD PMID:22729361 PMID:26498112 RGD:14398492 RGD:14398498 NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178
JBrowse link
G CD59 CD59 molecule ISO protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329
JBrowse link
G CD9 CD9 molecule ISO RGD PMID:11505398 RGD:2326208 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576
JBrowse link
G CDC25B cell division cycle 25B ISO RGD PMID:14559803 RGD:4105451 NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759
JBrowse link
G CDC25C cell division cycle 25C ISO DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744
JBrowse link
G CDH1 cadherin 1 ISO OMIM NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
JBrowse link
G COMT catechol-O-methyltransferase susceptibility
no_association
ISO DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter
RGD PMID:12810635 PMID:15285606 PMID:17442187 RGD:2289714 RGD:2289721 RGD:2289723 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) RGD PMID:18497059 RGD:2301045 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA) RGD PMID:18318428 RGD:2301040 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) RGD PMID:18497059 RGD:2301045 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates
ameliorates
ISO protein:decreased expression:endometrium (human)
human EFEMP2 knockdown cell line in a mouse model
RGD PMID:28177909 RGD:42722012 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
JBrowse link
G EGF epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619
JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G GHRH growth hormone releasing hormone ISO mRNA:increased expression:tumor:expression in 17/22 specimens RGD PMID:10022420 PMID:15784701 RGD:2289974 RGD:2301423 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712
JBrowse link
G HOXB13 homeobox B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial cancer ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:23014527 PMID:23182985 PMID:23406027 PMID:25044103 PMID:25157968 PMID:31666701 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC482182 sulfotransferase 1E1 ISO DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT) RGD PMID:18318428 RGD:2301040 NCBI chr13:59,323,430...59,343,745 JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MCPH1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr16:58,306,761...58,529,090
Ensembl chr16:58,295,280...58,529,433
JBrowse link
G MIR21 microRNA mir-21 ISO miRNA:increased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:8566964 PMID:8574961 PMID:8592341 PMID:9697702 PMID:9806477 PMID:10480359 PMID:10732761 PMID:11112663 PMID:11385712 PMID:11429708 PMID:11601928 PMID:11781295 PMID:11948175 PMID:12112654 PMID:12362047 PMID:12373605 PMID:12522551 PMID:12618391 PMID:12810663 PMID:12919140 PMID:15300854 PMID:15713769 PMID:16395668 PMID:16451135 PMID:16830052 PMID:17135187 PMID:17192056 PMID:17510385 PMID:18373977 PMID:18383312 PMID:18470917 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18726168 PMID:18772310 PMID:19224586 PMID:19267393 PMID:19698169 PMID:19863800 PMID:20233461 PMID:22322191 PMID:22949387 PMID:23403630 PMID:24033266 PMID:24362816 PMID:25741868 PMID:26467025 PMID:26845104 PMID:28135145 PMID:28449805 PMID:28492532 PMID:28874130 PMID:30521064 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MLH3 mutL homolog 3 ISO OMIM NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
JBrowse link
G MMP7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:deletions:intron:IVS4_delT (human) RGD PMID:15048091 RGD:2317737 NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
JBrowse link
G MSH3 mutS homolog 3 ISO OMIM NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521
JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: malignant endometrial neoplasm ClinVar PMID:11818965 PMID:12606733 PMID:15931596 PMID:15987719 PMID:16492921 PMID:16557584 PMID:17489848 PMID:17956577 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19394335 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20418187 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22926731 PMID:23035301 PMID:23108399 PMID:23361220 PMID:23561487 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24728327 PMID:24953332 PMID:25741868 PMID:25820570 PMID:26467025 PMID:26822237 PMID:26845104 PMID:27829682 PMID:28492532 PMID:28634180 NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539
JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
JBrowse link
G PGM1 phosphoglucomutase 1 ISO RGD PMID:508567 RGD:2299870 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622
JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta onset ISO mRNA:increased expression:endometrium (human) RGD PMID:28002804 RGD:13674181 NCBI chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:21478295 RGD:13441595 NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:10480359 PMID:15256438 PMID:16472587 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Endometrial cancer
ClinVar Annotator: match by term: Endometrial cancer, somatic
ClinVar PMID:9536098 PMID:10866302 PMID:10920277 PMID:11504908 PMID:16014636 PMID:17576681 PMID:18767981 PMID:20085938 PMID:21103832 PMID:21824802 PMID:21828076 PMID:25157968 PMID:26619011 PMID:26795104 PMID:27535533 PMID:28492532 PMID:28677221 PMID:29706350 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:decreased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G SHBG sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624
JBrowse link
G SMAD2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G SMAD7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749
JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr15:33,761,434...33,788,973
Ensembl chr15:33,785,545...33,877,869
JBrowse link
G SPAG9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr 9:26,820,381...26,966,315
Ensembl chr 9:26,820,002...26,966,300
JBrowse link
G STK11 serine/threonine kinase 11 ISO RGD PMID:18245476 RGD:2291944 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO RGD PMID:16985250 RGD:1581436 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489
JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
G WT1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link
endometrial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648
JBrowse link
G APC APC regulator of WNT signaling pathway onset ISO DNA:hypermethylation:promoter: (human)
ClinVar Annotator: match by term: Endometrial carcinoma
RGD
ClinVar
PMID:19900189 PMID:21363919 PMID:25741868 PMID:28492532 RGD:13524625 RGD:13525011 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:28492532 NCBI chr 8:47,798,946...47,819,364
Ensembl chr 8:47,801,895...47,819,318
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:24728327 PMID:25186627 PMID:25741868 PMID:27443514 PMID:28492532 PMID:30651582 PMID:31159747 PMID:31206626 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G AURKA aurora kinase A ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791
JBrowse link
G AURKB aurora kinase B disease_progression ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Endometrial carcinoma
RGD
ClinVar
PMID:16144912 PMID:28492532 RGD:13432166 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7581445 PMID:10667592 PMID:10667595 PMID:12566964 PMID:12955716 PMID:16014699 PMID:16168118 PMID:16267036 PMID:16284991 PMID:16685647 PMID:17924331 PMID:18489799 PMID:18936166 PMID:19147582 PMID:19340607 PMID:20104584 PMID:21520273 PMID:21702907 PMID:21990134 PMID:23161852 PMID:23867111 PMID:25452441 PMID:25637381 PMID:25741868 PMID:25777348 PMID:26467025 PMID:26681312 PMID:28324225 PMID:28492532 PMID:32295079 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20104584 PMID:22476429 PMID:22703879 PMID:24448499 PMID:24916970 PMID:25036526 PMID:25348012 PMID:25741868 PMID:26467025 PMID:26689913 PMID:27495310 PMID:27974047 PMID:28492532 PMID:29470806 PMID:30555256 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,760,164...38,761,718
Ensembl chr 6:38,758,254...38,761,735
JBrowse link
G BSG basigin disease_progression ISO protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061
JBrowse link
G C5H11orf65 chromosome 5 C11orf65 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25741868 PMID:28492532 PMID:30651582 PMID:31159747 NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,776,710...38,788,253
Ensembl chr 6:38,776,710...38,786,727
JBrowse link
G CCNB1 cyclin B1 ISO RGD PMID:17483252 RGD:2289230 NCBI chr 2:54,256,957...54,264,749 JBrowse link
G CD82 CD82 molecule disease_progression ISO RGD PMID:12684410 RGD:2289403 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768
JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8075649 PMID:11598162 PMID:12588804 PMID:14500541 PMID:20233471 PMID:20921021 PMID:22470475 PMID:22703879 PMID:24728327 PMID:25067988 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26182300 PMID:26467025 PMID:27616075 PMID:27720647 PMID:28125075 PMID:28135145 PMID:28352678 PMID:28492532 PMID:30311375 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDH13 cadherin 13 disease_progression ISO DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25186627 PMID:25741868 PMID:26094658 PMID:26467025 PMID:28492532 PMID:28779002 PMID:30303537 PMID:30374176 PMID:30851065 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,743,346...38,752,427
Ensembl chr 6:38,743,355...38,752,403
JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,729,729...38,738,357
Ensembl chr 6:38,730,219...38,738,219
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 disease_progression ISO RGD PMID:15741767 RGD:2315693 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7719344 PMID:8651276 PMID:8696350 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:15975938 PMID:16440883 PMID:16531735 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24489893 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G GRB2 growth factor receptor bound protein 2 severity ISO Shc-Grb2 complex;protein:increased expression:serum (human) RGD PMID:22459351 RGD:13441552 NCBI chr 9:5,108,128...5,182,091
Ensembl chr 9:5,117,164...5,180,296
JBrowse link
G GSK3B glycogen synthase kinase 3 beta severity ISO protein:increased expression:endometrium (human) RGD PMID:27050373 RGD:13524565 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
JBrowse link
G HDAC3 histone deacetylase 3 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G HRAS HRas proto-oncogene, GTPase disease_progression ISO protein:increased expression:endometrial stroma, cytoplasm (human)
DNA:snps:cds: (human)
RGD PMID:8960147 PMID:9641239 RGD:13441555 RGD:13781876 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027) RGD PMID:15800680 RGD:2290481 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KISS1 KiSS-1 metastasis suppressor disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:15949424 RGD:2302170 NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16474405 PMID:16618717 PMID:16987887 PMID:17056636 PMID:17384584 PMID:17704260 PMID:17875937 PMID:18316791 PMID:18794081 PMID:18958496 PMID:19018267 PMID:19020799 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:20949621 PMID:21228335 PMID:21686179 PMID:21784453 PMID:21975775 PMID:23014527 PMID:23182985 PMID:23406027 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25359213 PMID:25741868 PMID:28492532 PMID:29493581 PMID:31666701 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC119881520 phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G MAPK1 mitogen-activated protein kinase 1 severity ISO protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)
RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 severity ISO protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)
RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G MIR152 microRNA mir-152 ISO DNA:hypermethylation RGD PMID:21327300 RGD:21066329 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8566964 PMID:8574961 PMID:8592341 PMID:9526167 PMID:9697702 PMID:9806477 PMID:9833759 PMID:10480359 PMID:10732761 PMID:11112663 PMID:11385712 PMID:11429708 PMID:11601928 PMID:11781295 PMID:11948175 PMID:12112654 PMID:12115348 PMID:12362047 PMID:12373605 PMID:12522551 PMID:12618391 PMID:12810663 PMID:12919140 PMID:15133479 PMID:15300854 PMID:15713769 PMID:15849733 PMID:16341804 PMID:16395668 PMID:16451135 PMID:16830052 PMID:16995940 PMID:17135187 PMID:17192056 PMID:17510385 PMID:18373977 PMID:18383312 PMID:18470917 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18726168 PMID:18772310 PMID:19224586 PMID:19267393 PMID:19698169 PMID:19863800 PMID:20233461 PMID:21056691 PMID:21681552 PMID:22322191 PMID:22703879 PMID:22736432 PMID:22949387 PMID:23329266 PMID:23403630 PMID:24033266 PMID:24055113 PMID:24090359 PMID:24362816 PMID:24728327 PMID:24933000 PMID:25637381 PMID:25741868 PMID:26096739 PMID:26332594 PMID:26467025 PMID:26845104 PMID:27600092 PMID:28135145 PMID:28449805 PMID:28492532 PMID:28874130 PMID:30521064 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,759,713...38,765,556
Ensembl chr 6:38,762,103...38,765,488
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO RGD PMID:10502722 RGD:2306086 NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1586275 PMID:7585065 PMID:8640829 PMID:9222765 PMID:9718327 PMID:9774676 PMID:12115348 PMID:12362047 PMID:14504054 PMID:15235034 PMID:15655560 PMID:15713769 PMID:15849733 PMID:15862756 PMID:15872200 PMID:16451135 PMID:17192056 PMID:17312306 PMID:17440950 PMID:17531815 PMID:18383312 PMID:18772310 PMID:18822302 PMID:20305446 PMID:21879275 PMID:23047549 PMID:23729658 PMID:24033266 PMID:24278394 PMID:24362816 PMID:25081409 PMID:25479140 PMID:25525159 PMID:25741868 PMID:25964535 PMID:26467025 PMID:26951660 PMID:27449771 PMID:27601186 PMID:28492532 PMID:29212164 PMID:29967336 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma RGD
ClinVar
PMID:8782829 PMID:25741868 PMID:27476653 PMID:28492532 RGD:1600456 NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8063241 PMID:9536098 PMID:9774676 PMID:10471527 PMID:10508506 PMID:10521294 PMID:10537275 PMID:10612827 PMID:10938287 PMID:11470537 PMID:11641390 PMID:11709755 PMID:11807791 PMID:11900875 PMID:12019211 PMID:12732731 PMID:14520694 PMID:15098177 PMID:15236168 PMID:15354210 PMID:15483016 PMID:15782118 PMID:15872200 PMID:15952900 PMID:16000562 PMID:16199547 PMID:16203774 PMID:16270383 PMID:16408224 PMID:16464007 PMID:16813607 PMID:16885385 PMID:17453009 PMID:17531815 PMID:17576681 PMID:17594722 PMID:18033691 PMID:18269114 PMID:18301448 PMID:18409202 PMID:18415027 PMID:18566915 PMID:18625694 PMID:18790734 PMID:18809606 PMID:19250818 PMID:19324997 PMID:19389263 PMID:19851887 PMID:19924528 PMID:20028993 PMID:20176959 PMID:20379851 PMID:20487569 PMID:20531397 PMID:20937110 PMID:21081928 PMID:21120944 PMID:21155762 PMID:21836479 PMID:22006311 PMID:22102614 PMID:22290698 PMID:22495361 PMID:22703879 PMID:22851212 PMID:22949379 PMID:23047549 PMID:23263490 PMID:23359684 PMID:23523604 PMID:23554159 PMID:23621914 PMID:23733757 PMID:24033266 PMID:24040339 PMID:24100870 PMID:24323032 PMID:24362816 PMID:24440087 PMID:24728189 PMID:24728327 PMID:24896128 PMID:24933100 PMID:25006859 PMID:25117503 PMID:25203624 PMID:25231023 PMID:25318681 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25637381 PMID:25642631 PMID:25741868 PMID:25801821 PMID:25862369 PMID:25892863 PMID:25980754 PMID:26099011 PMID:26206375 PMID:26333163 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26530882 PMID:26552419 PMID:26681312 PMID:26689913 PMID:26720728 PMID:26805314 PMID:26845104 PMID:26888055 PMID:26898890 PMID:26901136 PMID:26976419 PMID:27064304 PMID:27273229 PMID:27329137 PMID:27487738 PMID:27601186 PMID:27920101 PMID:28125075 PMID:28135145 PMID:28152038 PMID:28176205 PMID:28323777 PMID:28369758 PMID:28466842 PMID:28492532 PMID:28514183 PMID:28528518 PMID:28531214 PMID:28640387 PMID:28765196 PMID:28767289 PMID:28873162 PMID:28912153 PMID:28944238 PMID:29212164 PMID:29360161 PMID:29368341 PMID:29684080 PMID:29887214 PMID:30093976 PMID:30267214 PMID:30612635 PMID:30982232 PMID:31100584 PMID:31391288 PMID:31658756 PMID:31965077 PMID:32615015 PMID:32773772 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:11818965 PMID:12606733 PMID:16140997 PMID:16338133 PMID:16492921 PMID:16557584 PMID:16616356 PMID:17489848 PMID:17956577 PMID:18414213 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19394335 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:20725929 PMID:20848659 PMID:21063410 PMID:21171015 PMID:22266422 PMID:22703879 PMID:22926731 PMID:23035301 PMID:23361220 PMID:23605219 PMID:24033266 PMID:24444654 PMID:24728327 PMID:25741868 PMID:25820570 PMID:26467025 PMID:26845104 PMID:27829682 PMID:28492532 NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539
JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr17:18,880,676...19,124,300
Ensembl chr17:18,880,383...19,122,258
JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr26:5,352,670...5,493,741
Ensembl chr26:5,331,459...5,493,830
JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:9276029 RGD:2292090 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:17200668 PMID:20091115 PMID:21285249 PMID:21365267 PMID:22241545 PMID:22692731 PMID:25186627 PMID:25356972 PMID:25741868 PMID:26283626 PMID:26315354 PMID:26467025 PMID:26689913 PMID:26692951 PMID:26898890 PMID:28440294 PMID:28492532 PMID:28767289 PMID:30287823 PMID:32566746 NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:23636398 RGD:13628733 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 PMID:10479499 PMID:10480359 PMID:12208142 PMID:14756672 PMID:15256438 PMID:15304120 PMID:15521988 PMID:15872200 PMID:16144131 PMID:16472587 PMID:16619239 PMID:17139668 PMID:17557300 PMID:18178629 PMID:18268114 PMID:18273873 PMID:18602922 PMID:18768816 PMID:19132747 PMID:19156169 PMID:19479271 PMID:19526325 PMID:20176959 PMID:20186688 PMID:20186689 PMID:20205264 PMID:20487569 PMID:20531397 PMID:20698049 PMID:21204794 PMID:21239990 PMID:21376568 PMID:22577899 PMID:22703879 PMID:22875147 PMID:22941189 PMID:22949387 PMID:23012243 PMID:23017166 PMID:23435383 PMID:23709753 PMID:23981578 PMID:24027009 PMID:24033266 PMID:24055113 PMID:24130102 PMID:24326041 PMID:24362816 PMID:24434690 PMID:24556621 PMID:24689082 PMID:24728327 PMID:24897087 PMID:25006859 PMID:25117502 PMID:25186627 PMID:25194673 PMID:25345868 PMID:25503501 PMID:25559809 PMID:25567908 PMID:25637381 PMID:25741868 PMID:25856668 PMID:25871621 PMID:25938944 PMID:25980754 PMID:26110232 PMID:26116798 PMID:26272126 PMID:26318770 PMID:26467025 PMID:26483394 PMID:26681312 PMID:26689913 PMID:26811195 PMID:26845104 PMID:26866578 PMID:26898890 PMID:27001570 PMID:27050224 PMID:27203213 PMID:27379089 PMID:27433846 PMID:27435373 PMID:27476653 PMID:27863258 PMID:27878467 PMID:27930734 PMID:28135145 PMID:28492532 PMID:28528518 PMID:28596308 PMID:28873162 PMID:28975465 PMID:29345684 PMID:29785153 PMID:29887214 PMID:30322717 PMID:30608896 PMID:30651582 PMID:30653781 PMID:30680046 PMID:30702970 PMID:31159747 PMID:31300551 PMID:31327751 PMID:31391288 PMID:31433215 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12376507 PMID:17145065 PMID:25529843 PMID:25741868 PMID:26467025 PMID:26748215 PMID:26811195 PMID:28492532 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:11371124 RGD:2292462 NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7728760 PMID:8980400 PMID:9326929 PMID:9536098 PMID:9740666 PMID:10555148 PMID:10866302 PMID:10920277 PMID:11504908 PMID:12372056 PMID:16014636 PMID:17576681 PMID:18767981 PMID:20085938 PMID:21103832 PMID:21194675 PMID:21659347 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22703879 PMID:23161105 PMID:23442912 PMID:23555315 PMID:24033266 PMID:24055113 PMID:24728327 PMID:24763289 PMID:25157968 PMID:25186627 PMID:25669429 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26580448 PMID:26619011 PMID:26795104 PMID:26800850 PMID:27428751 PMID:27477328 PMID:27535533 PMID:28135145 PMID:28492532 PMID:28677221 PMID:29706350 PMID:29785012 PMID:32350270 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
JBrowse link
G PTK2 protein tyrosine kinase 2 severity ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,806,750...38,812,541
Ensembl chr 6:38,807,487...38,812,379
JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405
JBrowse link
G RASSF1 Ras association domain family member 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,719,713...38,729,437
Ensembl chr 6:38,719,792...38,728,773
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:promoter:hypermethylated RGD PMID:18572225 RGD:2302555
G SFN stratifin ISO RGD PMID:16271083 RGD:2299931 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537
JBrowse link
G SMAD4 SMAD family member 4 severity ISO DNA:substitutions:promoter
mRNA:decreased expression:endometrium
RGD PMID:10331746 PMID:15385128 RGD:2299966 RGD:2300009 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024
JBrowse link
G TFF1 trefoil factor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
JBrowse link
G TP53 tumor protein p53 severity ISO DNA:mutations: :
ClinVar Annotator: match by term: Endometrial carcinoma
protein:increased expression:epithelial cell, endometrium
RGD
ClinVar
PMID:18431720 PMID:25741868 PMID:26353976 RGD:11075084 RGD:2298525 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
JBrowse link
G WNT2 Wnt family member 2 ISO mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr14:56,123,735...56,172,113
Ensembl chr14:56,129,248...56,172,069
JBrowse link
G WNT4 Wnt family member 4 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111
JBrowse link
G WNT5A Wnt family member 5A ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr20:34,756,430...34,790,937
Ensembl chr20:34,769,930...34,786,673
JBrowse link
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267
JBrowse link
G CDC25B cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759
JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr18:46,860,636...46,861,697 JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 6:42,547,638...42,573,407
Ensembl chr 6:42,548,983...42,573,962
JBrowse link
G CSRP1 cysteine and glycine rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 7:1,400,650...1,421,918
Ensembl chr 7:1,397,912...1,421,007
JBrowse link
G DDX1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr17:11,432,060...11,467,000
Ensembl chr17:11,432,136...11,466,990
JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307
JBrowse link
G TFF1 trefoil factor 1 ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
Endometrial Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146748 NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940
JBrowse link
G AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16338060 NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043
JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:endometrium RGD PMID:17988723 RGD:2315651 NCBI chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533
JBrowse link
G APC APC regulator of WNT signaling pathway ISO RGD PMID:24474556 RGD:13524584 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial neoplasm ClinVar PMID:19470935 PMID:21228398 PMID:23144622 PMID:28492532 NCBI chr23:38,131,956...38,223,888
Ensembl chr23:38,132,788...38,224,016
JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO RGD PMID:18386458 RGD:2298890 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19363521 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G CALB2 calbindin 2 ISO protein:decreased expression:endometrium RGD PMID:18604736 RGD:2315881 NCBI chr 5:77,178,158...77,205,663
Ensembl chr 5:77,177,951...77,205,671
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:endometrium
CTD
RGD
PMID:18306533 PMID:29232554 RGD:2296034 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CD44 CD44 molecule disease_progression ISO protein:decreased expression:endometrium
mRNA, protein:splice variant, increased expression:endometrium
RGD PMID:14658589 PMID:16308159 RGD:2289358 RGD:2296044 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8075649 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDK2 cyclin dependent kinase 2 disease_progression ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:14648178 RGD:2299055 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:cds:p.S31R
protein:increased expression:endometrium
RGD PMID:15099969 PMID:16837908 RGD:2289683 RGD:2296047 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:endometrium RGD PMID:15188025 RGD:2299090 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr18:46,860,636...46,861,697 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr27:38,411,009...38,440,367
Ensembl chr27:38,411,075...38,439,958
JBrowse link
G CHFR checkpoint with forkhead and ring finger domains ISO CTD Direct Evidence: marker/mechanism CTD PMID:17143476 NCBI chr26:251,369...324,699
Ensembl chr26:294,909...324,696
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29805589 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
JBrowse link
G CNR2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29805589 NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO RGD PMID:16803534 RGD:2298485 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G CTNNB1 catenin beta 1 disease_progression ISO protein:increased expression:nucleus
ClinVar Annotator: match by term: Endometrial neoplasm
RGD
ClinVar
PMID:9065402 PMID:9294210 PMID:10192393 PMID:16803534 PMID:17349568 PMID:25157968 PMID:26619011 RGD:2289828 RGD:2298485 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507
JBrowse link
G DCN decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr15:31,833,492...31,887,699
Ensembl chr15:31,833,746...31,877,417
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:decreased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:decreased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G EGF epidermal growth factor severity ISO protein:increased expression:plasma (human) RGD PMID:25416211 RGD:13432197 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 severity
disease_progression
ISO DNA:amplification RGD PMID:17945336 PMID:18202752 RGD:2298490 RGD:2298491 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression:endometrium RGD PMID:10537356 RGD:2298505 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression:endometrium RGD PMID:10537356 RGD:2298505 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.R156R(human) RGD PMID:26349749 RGD:12880439 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185510 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25437045 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21903722 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Endometrial neoplasm
DNA:mutations
DNA:SNP
CTD
ClinVar
RGD
PMID:7719344 PMID:8651276 PMID:8696350 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:15975938 PMID:16440883 PMID:16531735 PMID:17525745 PMID:18247426 PMID:18552176 PMID:18785201 PMID:20301628 PMID:20856019 PMID:21367659 PMID:21397175 PMID:21936542 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 RGD:2301188 RGD:2301189 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators RGD PMID:10873085 RGD:2289899 NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity
disease_progression
ISO mRNA, protein:increased expression:endometrium RGD PMID:10831352 PMID:12485477 RGD:2301252 RGD:2301256 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO human cells in a mouse xenograft model RGD PMID:23941783 RGD:13441554 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
JBrowse link
G HDAC1 histone deacetylase 1 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HOXA10 homeobox A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21670700 NCBI chr14:40,346,462...40,348,900
Ensembl chr14:40,346,462...40,354,396
JBrowse link
G HOXA11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr14:40,355,907...40,360,120
Ensembl chr14:40,357,478...40,359,919
JBrowse link
G HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr 5:69,927,888...70,009,306
Ensembl chr 5:69,927,984...70,009,179
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21442237 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:plasma:significantly lower circulating levels in 80 cases vs 80 controls (p<0.001), significantly decreased risk in the highest quartile of expression RGD PMID:15159305 RGD:2290018 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G INHA inhibin subunit alpha ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO RGD PMID:18691378 RGD:2299152 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G JAZF1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264096 NCBI chr14:40,939,680...41,275,981
Ensembl chr14:40,941,677...41,234,384
JBrowse link
G KDR kinase insert domain receptor disease_progression ISO mRNA:increased expression:endometrium RGD PMID:11745191 PMID:12485477 RGD:2301252 RGD:2301760 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19960433 RGD:2314907 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LASP1 LIM and SH3 protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28232485 NCBI chr 9:23,345,226...23,397,058
Ensembl chr 9:23,347,881...23,396,945
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO RGD PMID:15491750 RGD:2314921 NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183
JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO protein:increased expression:tumor:versus benign endometrium (p<0.0001) RGD PMID:10637067 RGD:2293548 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr 1:49,590,615...49,702,289
Ensembl chr 1:49,548,274...49,702,289
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO DNA:amplification RGD PMID:11719459 RGD:70557 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MIR200C microRNA mir-200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:22569286 NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169
JBrowse link
G MLH3 mutL homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:mutation, decreased expression:endometrium RGD PMID:11920468 PMID:17925543 RGD:2293523 RGD:2298951 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MSH3 mutS homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521
JBrowse link
G MSH6 mutS homolog 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10508506 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17301261 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26656844 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20530669 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27348297 NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase no_association ISO DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:22271435 PMID:22544315 RGD:8657377 RGD:8657379 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15877079 NCBI chr15:22,114,014...22,159,287 JBrowse link
G PGR progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr21:447,197...552,511
Ensembl chr21:447,319...552,511
JBrowse link
G PHB prohibitin ISO protein:increased expression:endometrium RGD PMID:10421803 RGD:2292406 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722
JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta ISO mRNA:increased expression:endometrium (human) RGD PMID:17427168 RGD:13441594 NCBI chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939
JBrowse link
G PLXNA3 plexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr  X:122,165,460...122,180,727
Ensembl chr  X:122,167,144...122,180,951
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23263490 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
JBrowse link
G PTEN phosphatase and tensin homolog severity ISO DNA:loss of heterozygosity:cds: (human)
protein:decreased expression:endometrium
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9326929 PMID:9354433 PMID:9765621 PMID:12888921 PMID:16402032 PMID:16804899 PMID:17317031 RGD:12832746 RGD:12832753 RGD:2292506 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO RGD PMID:14648178 RGD:2299055 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RNF144B ring finger protein 144B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29724995 NCBI chr35:17,056,189...17,226,254
Ensembl chr35:17,150,835...17,238,566
JBrowse link
G RNF43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344691 NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313
JBrowse link
G SEMA3B semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr20:39,058,708...39,067,277
Ensembl chr20:39,059,245...39,065,661
JBrowse link
G SEMA3F semaphorin 3F ISO CTD Direct Evidence: marker/mechanism CTD PMID:21933904 NCBI chr20:39,135,580...39,165,381
Ensembl chr20:39,136,523...39,161,325
JBrowse link
G SIX1 SIX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27259717 NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO RGD PMID:15220466 RGD:2315045 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16804899 NCBI chr 9:2,859,267...2,859,944 JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 ISO RGD PMID:9891532 RGD:2300389 NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706
JBrowse link
G SPOP speckle type BTB/POZ protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr 9:25,685,723...25,752,953
Ensembl chr 9:25,686,439...25,752,900
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr17:25,017,113...25,056,156
Ensembl chr17:25,017,113...25,056,544
JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072693 NCBI chr 2:75,587,561...75,601,099
Ensembl chr 2:75,587,584...75,598,925
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase disease_progression ISO protein:increased expression:endometrium RGD PMID:19443387 RGD:2315087 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
JBrowse link
G STAR steroidogenic acute regulatory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23200943 NCBI chr16:27,326,355...27,331,025
Ensembl chr16:27,326,355...27,331,025
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 no_association ISO 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)
DNA:SNP::no difference in allele distribution or genotype between patients and controls
RGD PMID:18318428 PMID:18497059 RGD:2301040 RGD:2301045 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25437045 NCBI chr 1:107,705,568...107,721,160
Ensembl chr 1:107,705,576...107,720,876
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264096 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645
JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:endometrium RGD PMID:11078809 RGD:2298562 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:20071162 NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7955072 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TP73 tumor protein p73 susceptibility ISO DNA:polymorphism:exon
DNA:hypermethylation
RGD PMID:15723718 PMID:16928264 RGD:2290585 RGD:2298528 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G TSPYL2 TSPY like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104009 NCBI chr  X:45,001,112...45,008,023
Ensembl chr  X:45,001,100...45,007,869
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17380299 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18622689 NCBI chr 2:15,300,401...15,481,535
Ensembl chr 2:15,299,723...15,481,495
JBrowse link
endometrial serous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
endometrial stromal sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:tumor:increased in 6/8 (75%) of tumors RGD PMID:17367465 RGD:2292170 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
Endometrioid Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G APC APC regulator of WNT signaling pathway ISO DNA:hypermethylation: (human) RGD PMID:18570730 RGD:13432144 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G AREG amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738
JBrowse link
G ATP7B ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267
JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
JBrowse link
G CDH1 cadherin 1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDK2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G DAXX death domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:decreased expression:endometrium
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
RGD
ClinVar
PMID:16962163 PMID:22885469 RGD:2289950 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENO2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G ESR1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO DNA:mutations:exons,intron, splice site:varied mutations in different patients, mutations are somatic but identical germline mutations are associated with craniosynostosis and skeletal dysplasia syndromes
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
RGD
ClinVar
PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:23908597 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 RGD:2289862 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G INHA inhibin subunit alpha ISO protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue RGD PMID:17143484 RGD:2290368 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391
JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794
JBrowse link
G KDR kinase insert domain receptor severity ISO protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) RGD PMID:16557278 RGD:2291929 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183
JBrowse link
G LOC611363 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 6:39,827,985...39,834,945 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G NKX2-1 NK2 homeobox 1 ISO DNA:hypermethylation RGD PMID:17504987 RGD:2290483
G PDGFRA platelet derived growth factor receptor alpha ISO protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:21984976 NCBI chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558
JBrowse link
G PTEN phosphatase and tensin homolog ISO DNA:loss of heterozygosity, mutations:multiple (human)
DNA:mutations: :multiple
RGD PMID:11156411 PMID:17418409 RGD:12802357 RGD:2289817 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO associated with Ovarian Neoplasms;protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859
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:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO protein:decreased expression:endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
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 chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CASP6 caspase 6 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr32:29,897,706...29,910,522
Ensembl chr32:29,897,823...29,911,469
JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:endometrium RGD PMID:25330821 RGD:11059518 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:31365951 RGD:126928127 NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
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 ISO OMIM NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC8 transmembrane channel like 8 ISO OMIM NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
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 ISO OMIM NCBI chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224
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 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM
ClinVar
PMID:22850876 NCBI chr 3:72,272,446...72,277,015
Ensembl chr 3:72,276,418...72,276,993
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 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737
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 CHRM3 cholinergic receptor muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 4:504,663...999,550
Ensembl chr 4:506,990...520,613
JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:33,237,124...33,268,835
Ensembl chr 7:33,237,593...33,268,254
JBrowse link
G FH fumarate hydratase ISO OMIM NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412
JBrowse link
G FMN2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:31,657,371...32,024,777
Ensembl chr 7:31,697,245...32,023,472
JBrowse link
G GREM2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:32,048,151...32,157,698
Ensembl chr 7:32,048,183...32,157,146
JBrowse link
G KMO kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:32,941,487...32,994,541
Ensembl chr 7:32,941,487...32,994,541
JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:33,364,569...33,369,080
Ensembl chr 7:33,365,045...33,368,969
JBrowse link
G OPN3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:32,995,047...33,040,873
Ensembl chr 7:32,996,938...33,040,876
JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:33,422,964...33,836,252
Ensembl chr 7:33,429,409...33,836,258
JBrowse link
G RGS7 regulator of G protein signaling 7 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:32,296,337...32,792,085
Ensembl chr 7:32,296,695...32,792,036
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
JBrowse link
G WDR64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 7:33,048,315...33,185,363 JBrowse link
G ZP4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 4:2,324,657...2,332,357
Ensembl chr 4:2,324,226...2,331,470
JBrowse link
Hydatidiform Mole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CGA glycoprotein hormones, alpha polypeptide ISO protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640
JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole
CTD
ClinVar
PMID:25741868 NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943
JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
Hydatidiform Mole, Invasive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH2 mutS homolog 2 ISO protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25097207 PMID:25741868 PMID:26956250 PMID:28166811 PMID:28492532 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
Hydatidiform Mole, Recurrent, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEI1 meiotic double-stranded break formation protein 1 ISO OMIM NCBI chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816
JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C18H11orf80 chromosome 18 C11orf80 homolog ISO OMIM NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29901129 NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724
JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126
JBrowse link
McKusick-Kaufman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKKS MKKS centrosomal shuttling protein ISO OMIM NCBI chr24:11,887,504...11,914,055
Ensembl chr24:11,898,236...11,913,740
JBrowse link
oligohydramnios term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:25741868 NCBI chr 8:72,275,209...72,284,991 JBrowse link
G PDGFA platelet derived growth factor subunit A ISO mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PDPN podoplanin ISO mRNA, protein:decreased expression:lung RGD PMID:11839536 RGD:2292243 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:28375157 PMID:28492532 PMID:33532864 NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
JBrowse link
papillomavirus infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific exacerbates ISO associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) RGD PMID:31882741 RGD:125097510 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CCNA1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr25:4,189,457...4,198,170
Ensembl chr25:4,189,457...4,198,373
JBrowse link
G CD274 CD274 molecule ISO associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO associated with squamous cell carcinoma RGD PMID:31430224 RGD:38599177 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO RGD PMID:12918070 PMID:12941545 PMID:19272325 RGD:2306228 RGD:2314693 RGD:2314694 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:30935248 RGD:39938848 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
JBrowse link
G MIR20A microRNA mir-20a ISO associated with oral squamous cell carcinoma RGD PMID:26781875 RGD:26884343 NCBI chr22:42,478,462...42,478,520
Ensembl chr22:42,478,462...42,478,520
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:23444906 RGD:38501058 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MX1 MX dynamin like GTPase 1 exacerbates ISO protein:increased expression:body��wart��(human) RGD PMID:28736973 RGD:126777683 NCBI chr31:35,898,206...35,929,802
Ensembl chr31:35,860,590...35,951,350
JBrowse link
G TLR3 toll like receptor 3 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR9 toll like receptor 9 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr  X:123,717,524...123,783,781
Ensembl chr  X:123,717,446...123,783,014
JBrowse link
placenta disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12087403 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G PRSS8 serine protease 8 ISO CTD Direct Evidence: therapeutic CTD PMID:24722141 NCBI chr 6:17,110,251...17,114,564
Ensembl chr 6:17,110,300...17,114,816
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722141 NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16007645 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
placental abruption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHMT betain