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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:endometriosis
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Accession:DOID:289 term browser browse the term
Definition:A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. (DO)
Synonyms:exact_synonym: ENDO1;   endometrioma;   endometriomas;   endometrioses
 related_synonym: ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1
 primary_id: MESH:D004715
 alt_id: MIM:131200
 xref: EFO:0001065;   ICD10CM:N80;   ICD10CM:N80.9;   ICD9CM:617;   NCI:C3014
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
endometriosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC4 ATP binding cassette subfamily C member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25446850 NCBI chr22:45,767,033...46,013,577
Ensembl chr22:45,765,835...46,013,505
JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477
JBrowse link
G ABI3BP ABI family member 3 binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr33:7,265,804...7,498,973
Ensembl chr33:7,266,685...7,418,106
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25446850 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:21232532 PMID:25446850 NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043
JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956
JBrowse link
G ANO4 anoctamin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr15:39,740,496...40,149,039
Ensembl chr15:39,740,337...40,149,024
JBrowse link
G AR androgen receptor no_association ISO RGD PMID:15120698 RGD:1578684 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 AREG amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738
JBrowse link
G ARHGAP28 Rho GTPase activating protein 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 7:73,023,681...73,260,093
Ensembl chr 7:73,055,118...73,257,375
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23406865 RGD:7257718 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO protein:increased expression:endometrium RGD PMID:17693084 PMID:23406865 PMID:25937801 RGD:11353846 RGD:2293018 RGD:7257718 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BCL2L1 BCL2 like 1 treatment ISO RGD PMID:25937801 RGD:11353846 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO RGD PMID:18386577 RGD:2293122 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMP7 bone morphogenetic protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653
JBrowse link
G BRD8 bromodomain containing 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr11:25,793,375...25,825,868
Ensembl chr11:25,793,668...25,825,726
JBrowse link
G C1R complement C1r ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557
JBrowse link
G CCL1 C-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30579999 NCBI chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:peritoneal fluid (human) RGD PMID:15005786 RGD:11528566 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30579999 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:endometrium (human) RGD PMID:18595729 RGD:2307108 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CCNE2 cyclin E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr29:39,534,872...39,551,141
Ensembl chr29:39,534,968...39,546,566
JBrowse link
G CD226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 1:8,348,628...8,437,520
Ensembl chr 1:8,351,207...8,435,145
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO mRNA, protein:decreased expression:macrophage RGD PMID:19606481 RGD:6893501 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD55 CD55 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226
JBrowse link
G CFD complement factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
JBrowse link
G CLDN1 claudin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033
JBrowse link
G CNIH3 cornichon family AMPA receptor auxiliary protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 7:39,754,148...39,846,436
Ensembl chr 7:39,755,782...39,847,158
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
JBrowse link
G COPS2 COP9 signalosome subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr30:15,332,411...15,365,528
Ensembl chr30:15,334,096...15,365,443
JBrowse link
G CPM carboxypeptidase M ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr10:10,968,830...10,999,887 JBrowse link
G CSF1 colony stimulating factor 1 ISO protein:increased expression:peritoneal fluid (human) RGD PMID:22365076 RGD:38500240 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:endometrium, epithelium, stroma (human) RGD PMID:29462326 RGD:150429593 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CXCL13 C-X-C motif chemokine ligand 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30579999 NCBI chr32:2,047,277...2,053,277
Ensembl chr32:2,047,315...2,052,833
JBrowse link
G CXCL14 C-X-C motif chemokine ligand 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr11:23,598,640...23,606,850
Ensembl chr11:23,599,645...23,606,823
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:peritoneal fluid (human) RGD PMID:25704572 PMID:29962266 RGD:150520017 RGD:150521547 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8550748 PMID:18815356 PMID:21958689 PMID:23406865 RGD:7257715 RGD:7257718 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 RGD PMID:18849443 RGD:5147674 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370
JBrowse link
G DCSTAMP dendrocyte expressed seven transmembrane protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr13:5,542,474...5,559,433
Ensembl chr13:5,542,425...5,571,968
JBrowse link
G DDX5 DEAD-box helicase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 9:12,300,706...12,307,931
Ensembl chr 9:12,300,708...12,307,663
JBrowse link
G DEPP1 DEPP autophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr28:2,463,770...2,465,240
Ensembl chr28:2,464,584...2,465,210
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 8:52,686,211...52,695,226
Ensembl chr 8:52,686,211...52,695,226
JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr26:35,697,428...35,701,596
Ensembl chr26:35,697,618...35,701,496
JBrowse link
G DLA-DRB1 MHC class II DLA DRB1 beta chain severity ISO DNA:SNP: :rs660895 (human) RGD PMID:20797713 RGD:5147572 NCBI chr12:2,151,409...2,164,564 JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:decreased expression:endometrium: RGD PMID:21316665 RGD:9588653 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 mRNA:increased expression:endometrium: RGD PMID:17081533 RGD:9588669 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 mRNA:increased expression:endometrium: RGD PMID:17081533 RGD:9588669 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:decreased 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 EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EGR1 early growth response 1 ISO mRNA, protein:increased expression:ovary RGD PMID:23427178 RGD:10395305 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G ELAVL1 ELAV like RNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20889954 NCBI chr20:52,648,878...52,677,578 JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 5:61,621,964...61,636,152
Ensembl chr 5:61,622,550...61,636,148
JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:16500359 RGD:1580337 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 RGD
CTD
PMID:15618247 PMID:17625110 RGD:5509040 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 treatment ISO RGD PMID:32651901 RGD:126781723 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G FAM180A family with sequence similarity 180 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr16:12,523,407...12,535,510
Ensembl chr16:12,523,467...12,535,885
JBrowse link
G FBLN1 fibulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr10:20,498,097...20,564,776
Ensembl chr10:20,498,567...20,627,836
JBrowse link
G FBN1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 no_association ISO mRNA:increased expression:ovary, epithelial cell
DNA:SNPs
RGD PMID:17482184 PMID:18285324 RGD:2301190 RGD:2301191 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G FKBP5 FKBP prolyl isomerase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr12:4,724,668...4,833,691
Ensembl chr12:4,727,497...4,833,323
JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 7:27,634,624...27,659,111
Ensembl chr 7:27,634,900...27,659,037
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23284138 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:22541024 RGD:38501099 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G GC GC vitamin D binding protein severity ISO RGD PMID:18334925 RGD:5509874 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
JBrowse link
G GHRH growth hormone releasing hormone ISO mRNA:decreased expression:ovary RGD PMID:11163834 RGD:2301425 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712
JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 ISO protein:decreased expression:endometrium (mouse)
protein:increased expression:endometrium, cytoplasm (human)
RGD PMID:22520060 PMID:32152908 RGD:39938861 RGD:39939083 NCBI chr 6:15,792,072...15,796,922
Ensembl chr 6:15,792,897...15,794,051
JBrowse link
G GPX3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 PMID:21063030 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G GREB1 growth regulating estrogen receptor binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104006 NCBI chr17:8,250,941...8,327,398
Ensembl chr17:8,252,134...8,325,886
JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043
JBrowse link
G HDAC1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 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 treatment ISO protein:decreased expression:ectopic endometrium, dorsal root ganglion:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20884991 PMID:22138541 RGD:9590244 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC3 histone deacetylase 3 ISO OMIM:131200 MouseDO NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr32:11,756,487...11,800,695 JBrowse link
G HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18815356 NCBI chr 9:20,402,124...20,407,143
Ensembl chr 9:20,405,019...20,406,792
JBrowse link
G HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18815356 PMID:21232532 NCBI chr 5:69,927,888...70,009,306
Ensembl chr 5:69,927,984...70,009,179
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048
JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:colon RGD PMID:29477012 RGD:14974258 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 1:29,646,776...29,669,669
Ensembl chr 1:29,647,552...29,669,578
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr16:1,037,169...1,040,996
Ensembl chr16:1,037,162...1,167,094
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr27:2,063,548...2,067,366
Ensembl chr27:1,989,772...2,067,298
JBrowse link
G IHH Indian hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr37:25,616,942...25,622,989 JBrowse link
G IL10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21665488 PMID:30579999 RGD:11049494 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL15 interleukin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762
JBrowse link
G IL1B interleukin 1 beta ISO ClinVar Annotator: match by term: Endometriosis ClinVar PMID:18550579 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1F10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr17:37,192,357...37,202,519
Ensembl chr17:37,192,175...37,202,044
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 PMID:21063030 NCBI chr10:40,825,986...40,897,898
Ensembl chr10:40,827,377...40,897,596
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL32 interleukin 32 exacerbates ISO protein:increased expression:plasma (human) RGD PMID:30099220 RGD:150340750 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G IL36B interleukin 36 beta ISO ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr17:37,159,276...37,165,841
Ensembl chr17:37,159,434...37,165,423
JBrowse link
G IL36G interleukin 36 gamma ISO ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr17:37,100,557...37,148,402
Ensembl chr17:37,144,309...37,149,400
JBrowse link
G IL36RN interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Endometriosis ClinVar NCBI chr17:37,184,527...37,190,094
Ensembl chr17:37,184,801...37,189,018
JBrowse link
G IL7R interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300
JBrowse link
G IMPA2 inositol monophosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 7:77,604,620...77,648,416
Ensembl chr 7:77,597,888...77,648,218
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983
JBrowse link
G ITGB1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961
JBrowse link
G ITGB3BP integrin subunit beta 3 binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 5:46,645,858...46,716,170
Ensembl chr 5:46,681,412...46,701,509
JBrowse link
G ITGB8 integrin subunit beta 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr14:34,370,957...34,449,091
Ensembl chr14:34,349,232...34,444,235
JBrowse link
G KDR kinase insert domain receptor ISO mRNA:increased expression:endometrium RGD PMID:20056215 RGD:5135061 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KLF13 KLF transcription factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030
G KLF9 KLF transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 1:87,109,310...87,164,636
Ensembl chr 1:87,109,450...87,111,525
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
OMIM:131200
CTD
MouseDO
PMID:23284138 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308
JBrowse link
G LMOD1 leiomodin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 7:1,025,022...1,059,254 JBrowse link
G LOC476167 cytochrome b5 pseudogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932
JBrowse link
G LOC488947 interferon-induced protein with tetratricopeptide repeats 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 4:125,675...133,304
Ensembl chr 4:84,720...132,981
JBrowse link
G LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 5:38,023,858...38,066,548
Ensembl chr 5:38,023,684...38,065,487
JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase ISO mRNA:increased expression:uterus RGD PMID:17845203 RGD:2303708 NCBI chr29:7,367,617...7,448,862
Ensembl chr29:7,332,684...7,448,507
JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr  X:37,765,810...37,883,955
Ensembl chr  X:37,765,813...37,883,955
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO mRNA:increased expression:peritoneum (human) RGD PMID:25207642 RGD:150340690 NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
JBrowse link
G MDK midkine ISO RGD PMID:15734764 RGD:1581202
G MED1 mediator complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 9:22,989,257...23,019,350
Ensembl chr 9:22,989,301...23,019,349
JBrowse link
G MED14 mediator complex subunit 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr  X:35,125,270...35,191,260
Ensembl chr  X:35,125,774...35,191,122
JBrowse link
G MED16 mediator complex subunit 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr20:57,771,543...57,782,839
Ensembl chr20:57,777,827...57,782,819
JBrowse link
G MED17 mediator complex subunit 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr21:6,967,304...6,990,542
Ensembl chr21:6,967,481...6,990,547
JBrowse link
G MED4 mediator complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608
JBrowse link
G MIR21 microRNA mir-21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA:increased expression:endometrium RGD PMID:20056200 RGD:2325695 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:endometrium RGD PMID:20085636 RGD:2325792 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MTA1 metastasis associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 8:72,752,894...72,772,236
Ensembl chr 8:72,753,178...72,772,762
JBrowse link
G MTA2 metastasis associated 1 family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr18:54,038,073...54,046,376
Ensembl chr18:54,038,212...54,046,059
JBrowse link
G MYLIP myosin regulatory light chain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr35:15,257,633...15,276,771
Ensembl chr35:15,256,885...15,275,424
JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr17:18,880,676...19,124,300
Ensembl chr17:18,880,383...19,122,258
JBrowse link
G NCOA6 nuclear receptor coactivator 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr24:23,802,360...23,877,986
Ensembl chr24:23,802,351...23,866,792
JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 5:39,687,530...39,837,003
Ensembl chr 5:39,687,543...39,836,464
JBrowse link
G NDNF neuron derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr19:19,009,966...19,053,047
Ensembl chr19:19,036,372...19,049,937
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
JBrowse link
G NEFM neurofilament medium chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr25:32,493,517...32,498,615
Ensembl chr25:32,493,675...32,498,570
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO RGD PMID:23954358 RGD:10413877 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
JBrowse link
G NR1D2 nuclear receptor subfamily 1 group D member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr23:19,758,907...19,787,725
Ensembl chr23:19,762,052...19,787,614
JBrowse link
G NR2C1 nuclear receptor subfamily 2 group C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr15:35,003,658...35,049,812
Ensembl chr15:35,005,066...35,038,968
JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr20:5,041,656...5,139,859
Ensembl chr20:5,052,232...5,133,721
JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 3:44,135,143...44,148,836
Ensembl chr 3:44,136,463...44,148,524
JBrowse link
G NR2F6 nuclear receptor subfamily 2 group F member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr20:45,490,113...45,500,606
Ensembl chr20:45,464,356...45,500,608
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131
JBrowse link
G NR4A1 nuclear receptor subfamily 4 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr27:2,947,729...2,965,045
Ensembl chr27:2,891,053...2,955,655
JBrowse link
G NRP1 neuropilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 2:3,416,062...3,553,929
Ensembl chr 2:3,413,821...3,552,483
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO mRNA, protein:increased expression:spinal ganglia, uterus RGD PMID:21385399 RGD:5684532 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 3:51,131,470...51,491,112
Ensembl chr 3:51,138,751...51,513,024
JBrowse link
G OLFM4 olfactomedin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21048224 NCBI chr22:10,053,494...10,075,759
Ensembl chr22:9,944,025...10,074,722
JBrowse link
G OSR2 odd-skipped related transciption factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr13:1,019,167...1,031,622
Ensembl chr13:1,023,879...1,031,225
JBrowse link
G PAPPA pappalysin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550
JBrowse link
G PAX2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473392 NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
JBrowse link
G PGR progesterone receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16126772 PMID:20864642 PMID:21166214 PMID:21232532 RGD:1601277 RGD:7248704 NCBI chr21:447,197...552,511
Ensembl chr21:447,319...552,511
JBrowse link
G PLK1 polo like kinase 1 ISO mRNA, protein:increased expression RGD PMID:18353325 RGD:2299937 NCBI chr 6:22,165,338...22,176,847
Ensembl chr 6:22,165,338...22,176,441
JBrowse link
G PLXNC1 plexin C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr15:34,279,880...34,417,134
Ensembl chr15:34,279,932...34,417,720
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11925390 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
G PRLR prolactin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 4:73,147,919...73,280,970
Ensembl chr 4:73,110,858...73,273,916
JBrowse link
G PTGER2 prostaglandin E receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19407222 NCBI chr 8:28,523,318...28,536,936
Ensembl chr 8:28,522,681...28,536,922
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19407222 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
JBrowse link
G PTGES prostaglandin E synthase ISO mRNA, protein:increased expression:epithelial cell RGD PMID:17295901 RGD:2300079 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232
JBrowse link
G PTGFR prostaglandin F receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25446850 NCBI chr 6:68,460,107...68,498,793
Ensembl chr 6:68,460,107...68,499,789
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:20056215 PMID:23406865 PMID:25446850 RGD:5135061 RGD:7257718 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO RGD PMID:17543958 RGD:2292555 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO RGD PMID:20070289 RGD:6484710 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G RARB retinoic acid receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr23:18,207,253...18,931,128
Ensembl chr23:18,207,760...18,482,652
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr30:5,840,901...5,914,804
Ensembl chr30:5,841,738...5,914,810
JBrowse link
G RASL11A RAS like family 11 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr25:12,316,034...12,318,740
Ensembl chr25:12,316,060...12,318,638
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 3:84,060,417...84,286,008
Ensembl chr 3:84,064,440...84,286,360
JBrowse link
G RGS4 regulator of G protein signaling 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr38:19,771,454...19,778,917
Ensembl chr38:19,771,441...19,779,190
JBrowse link
G RORB RAR related orphan receptor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 1:83,470,569...83,666,200
Ensembl chr 1:83,476,816...83,666,061
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:endometrium RGD PMID:17845203 RGD:2303708 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G RXFP1 relaxin family peptide receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr15:55,650,869...55,745,560
Ensembl chr15:55,651,121...55,744,496
JBrowse link
G SELENOP selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 4:66,953,060...66,964,162
Ensembl chr 4:66,956,405...66,959,043
JBrowse link
G SELL selectin L ISO mRNA:increased expression:endometrium RGD PMID:17845203 RGD:2303708 NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human protein in a rat model
protein:decreased expression:endometrium (rat)
RGD PMID:22975116 PMID:23466670 RGD:8590225 RGD:8638001 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SLC16A6 solute carrier family 16 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 9:15,013,449...15,034,010
Ensembl chr 9:15,015,420...15,032,695
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SLC20A1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr17:36,863,786...36,879,331
Ensembl chr17:36,863,659...36,909,318
JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr37:308,054...329,037
Ensembl chr37:303,104...368,865
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985
JBrowse link
G SMPDL3A sphingomyelin phosphodiesterase acid like 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 1:62,091,947...62,110,081
Ensembl chr 1:62,092,121...62,109,773
JBrowse link
G SPARCL1 SPARC like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr32:10,900,072...10,944,392
Ensembl chr32:10,900,283...10,944,449
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 disease_progression ISO protein:increased expression:serum RGD PMID:8988701 RGD:2300390 NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706
JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21232532 PMID:23183084 NCBI chr34:7,118,814...7,144,828
Ensembl chr34:7,118,814...7,144,828
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21232532 NCBI chr17:25,017,113...25,056,156
Ensembl chr17:25,017,113...25,056,544
JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557
JBrowse link
G STC2 stanniocalcin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 4:39,151,951...39,165,514
Ensembl chr 4:39,152,503...39,162,343
JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23284138 NCBI chr20:23,915,149...24,167,740
Ensembl chr20:23,895,802...24,182,869
JBrowse link
G SULF2 sulfatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 PMID:21063030 NCBI chr24:34,732,000...34,850,347
Ensembl chr24:34,732,037...34,828,569
JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 5:51,122,469...51,123,753 JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link
G THRA thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138541 NCBI chr 9:22,469,466...22,493,445
Ensembl chr 9:22,468,594...22,493,445
JBrowse link
G TMT1A thiol methyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr27:3,858,792...3,866,350
Ensembl chr27:3,857,454...3,866,448
JBrowse link
G TNC tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
JBrowse link
G TNF tumor necrosis factor treatment ISO ClinVar Annotator: match by term: Endometriosis RGD
ClinVar
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... RGD:7247423 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B treatment ISO human protein in rat model RGD PMID:21481092 PMID:21741153 RGD:5131251 RGD:7247423 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
G TOB1 transducer of ERBB2, 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 9:26,736,805...26,741,119
Ensembl chr 9:26,736,675...26,740,177
Ensembl chr 9:26,736,675...26,740,177
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866
JBrowse link
G TXNIP thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531
JBrowse link
G UST uronyl 2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20864642 NCBI chr 1:39,633,276...39,922,361
Ensembl chr 1:39,633,501...39,921,289
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO mRNA:increased expression:endometrium RGD PMID:17845203 RGD:2303708 NCBI chr20:53,482,239...53,532,399
Ensembl chr20:53,482,498...53,531,296
JBrowse link
G VCAN versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:21063030 NCBI chr 3:24,127,293...24,238,859
Ensembl chr 3:24,119,181...24,239,192
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:increased expression:endometrium RGD PMID:20056215 RGD:5135061 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:18928861 RGD:5685615 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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 PDCD10 programmed cell death 10 disease_progression ISO protein:increased expression:endometrium (human) RGD PMID:32186778 RGD:401827111 NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445
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 PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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 CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:deletions:exon (rat) RGD PMID:18558284 RGD:2316081 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
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 DHFR dihydrofolate reductase ISO ClinVar Annotator: match by term: MSH3-related condition ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29641532 PMID:36652909 NCBI chr 3:26,521,214...26,556,065 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 ERRFI1 ERBB receptor feedback inhibitor 1 ISO OMIM:608089 MouseDO NCBI chr 5:61,621,964...61,636,152
Ensembl chr 5:61,622,550...61,636,148
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 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 JAK1 Janus kinase 1 severity ISO DNA:frameshift mutations RGD PMID:29121062 RGD:150524355 NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571
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 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 MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Endometrial cancer ClinVar
OMIM
PMID:12702580 PMID:28195393 PMID:28492532 PMID:31297992 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 ClinVar Annotator: match by term: MSH3-related condition OMIM
ClinVar
PMID:2635641 PMID:8782829 PMID:11470537 PMID:20981092 PMID:21128252 More... 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: Endometrial cancer, somatic ClinVar PMID:2914711 PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 More... 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 POLE DNA polymerase epsilon, catalytic subunit onset
disease_progression
ameliorates
ISO DNA:polymorphisms:multiple (human)
protein:increased expression:endometrium (human)
DNA:missense mutations:CDS:p.P286R, p.V411L (human)
DNA:missense mutations:multiple (human)
RGD PMID:25224212 PMID:29559562 PMID:29659608 PMID:31866764 RGD:151347644 RGD:151347645 RGD:151347650 RGD:151347857 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:608089 MouseDO NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G RAD21 RAD21 cohesin complex component onset ISO DNA:CNV: (human) RGD PMID:25546926 RGD:329322876 NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035
JBrowse link
G RNF43 ring finger protein 43 ISO DNA:mutations:multiple: (human) RGD PMID:25344691 RGD:151361224 NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313
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 OMIM:608089 RGD
MouseDO
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 TP53 tumor protein p53 ISO OMIM:608089 MouseDO NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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:25741868 PMID:28492532 PMID:32885271 RGD:13524625 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:25741868 PMID:28492532 NCBI chr 8:47,798,946...47,819,364
Ensembl chr 8:47,801,895...47,819,318
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar 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 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:133608 PMID:1300551 PMID:8845835 PMID:8968760 PMID:10425038 More... 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 BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20077502 PMID:21344236 PMID:25330149 PMID:25741868 PMID:25980754 More... NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 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:7545954 PMID:7581445 PMID:7837387 PMID:7894492 PMID:8531967 More... 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:8075631 PMID:8524414 PMID:8673091 PMID:8673092 PMID:8758903 More... 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:25085752 More... 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:2449335 PMID:3028782 PMID:8075649 PMID:9537325 PMID:9744472 More... 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:9536098 PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G DHFR dihydrofolate reductase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:9536098 PMID:17576681 PMID:20154325 PMID:25741868 PMID:26467025 More... NCBI chr 3:26,521,214...26,556,065 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 EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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:9002682 PMID:9462761 More... 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:15696205 PMID:16051643 PMID:16474405 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC119872409 small nucleolar RNA SNORD60 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:1756143 PMID:7728749 PMID:8566964 PMID:8571956 PMID:8574961 More... 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:16199547 PMID:17656264 PMID:22290698 PMID:25741868 More... 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:9536098 More... 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 ClinVar PMID:2635641 PMID:8782829 PMID:9536098 PMID:16199547 PMID:17576681 More... 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:183784 PMID:183865 PMID:216699 PMID:503524 PMID:580154 More... 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:15987719 PMID:16140997 PMID:16338133 More... 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 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
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 More... 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:25741868 PMID:26467025 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:1945792 PMID:7728760 PMID:8980400 PMID:9259288 PMID:9326929 More... 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:20400964 PMID:21990120 PMID:24800917 PMID:25741868 PMID:26681312 More... 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 TES testin LIM domain protein exacerbates
severity
ISO RGD PMID:24929083 RGD:597621666 NCBI chr14:55,217,768...55,240,668
Ensembl chr14:55,177,375...55,240,668
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 protein:increased expression:epithelial cell, endometrium
ClinVar Annotator: match by term: Endometrial carcinoma
RGD
ClinVar
PMID:18431720 PMID:25741868 PMID:28492532 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 serous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma ClinVar NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
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
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Papillary carcinoma of the corpus uteri ClinVar PMID:18269114 PMID:21642682 PMID:24362816 PMID:25741868 PMID:28492532 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
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 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 RGD PMID:16962163 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 RGD PMID:17525745 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 POLE DNA polymerase epsilon, catalytic subunit ameliorates ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Endometrioid adenocarcinoma
RGD
ClinVar
PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More... RGD:151347648 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
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 pelvic peritoneum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD68 CD68 molecule ISO protein:increased expression:peritoneum (human) RGD PMID:19136478 RGD:40925932 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
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
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631
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 EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570
JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:25741868 NCBI 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 Annotator: match by term: NLRP7-related condition ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 | ClinVar Annotator: match by term: KHDC3L-related condition OMIM
ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943
JBrowse link
Hydatidiform Mole, Recurrent, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEI1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 | ClinVar Annotator: match by term: MEI1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30388401 NCBI 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 TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 | ClinVar Annotator: match by term: TOP6BL-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30388401 NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15375
      reproductive system disease 3101
        female reproductive system disease 2124
          endometriosis 372
            endometrial cancer + 192
            endometriosis in scar of skin 0
            endometriosis of intestine 0
            endometriosis of ovary 0
            endometriosis of pelvic peritoneum 1
            endometriosis of rectovaginal septum and vagina 0
            endometriosis of uterus 4
            endosalpingiosis 0
            fallopian tube endometriosis 0
Path 2
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15375
      Urogenital Diseases 4919
        Female Urogenital Diseases and Pregnancy Complications 2599
          Female Urogenital Diseases 2127
            female reproductive system disease 2124
              endometriosis 372
                endometrial cancer + 192
                endometriosis in scar of skin 0
                endometriosis of intestine 0
                endometriosis of ovary 0
                endometriosis of pelvic peritoneum 1
                endometriosis of rectovaginal septum and vagina 0
                endometriosis of uterus 4
                endosalpingiosis 0
                fallopian tube endometriosis 0
paths to the root