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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:reproductive system neoplasm
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Accession:DOID:9008651 term browser browse the term
Definition:This is a benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system
Synonyms:exact_synonym: neoplasm of the reproductive system;   reproductive neoplasm;   reproductive system tumor;   reproductive tumor;   tumor of the reproductive system
 xref: EFO:1000051


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castration-resistant prostate carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C1 aldo-keto reductase family 1, member C1 ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:epithelial cell:		 CTD
RGD		 PMID:23196782 PMID:25555457 RGD:10053626 NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248 		JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985049 PMID:24740322 PMID:28500234 PMID:28757136 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G ASF1B anti-silencing function 1B histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr 2:65,063,186...65,072,681
Ensembl chr 2:65,062,766...65,072,679 		JBrowse link
G CCNE2 cyclin E2 treatment ISO RGD PMID:27431942 RGD:13504681 NCBI chr 4:41,802,090...41,821,870
Ensembl chr 4:41,804,377...41,821,874 		JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30185663 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CENPK centromere protein K ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr16:44,008,673...44,080,565
Ensembl chr16:44,041,490...44,080,492 		JBrowse link
G CHD1 chromodomain helicase DNA binding protein 1 ISO DNA:mutations: : RGD PMID:22722839 RGD:9587749 NCBI chr 2:105,113,149...105,205,303
Ensembl chr 2:105,113,668...105,203,119 		JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,424...80,971,873 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex treatment ISO RGD PMID:28498618 RGD:28867238 NCBI chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,818...87,194,170 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A treatment
disease_progression		 ISO DNA:CNV: :prostate (human) RGD PMID:23660011 RGD:151667415 NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138 		JBrowse link
G TRIM24 tripartite motif containing 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27238081 NCBI chr18:11,055,211...11,151,755
Ensembl chr18:11,055,213...11,151,404 		JBrowse link
G ZNF217 zinc finger protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr17:54,605,939...54,648,868
Ensembl chr17:54,605,943...54,648,736 		JBrowse link
G ZNF367 zinc finger protein 367 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr10:25,707,711...25,735,073
Ensembl chr10:25,707,722...25,735,067 		JBrowse link
cervical adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPINK1 serine peptidase inhibitor Kazal type 1 ISO RGD PMID:2258083 RGD:2300391 NCBI chr 2:149,072,652...149,079,529
Ensembl chr 2:149,071,703...149,079,499 		JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460 		JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin ISO protein:increased expression:serum RGD PMID:11299848 RGD:2325708 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938 		JBrowse link
G API5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr 2:18,962,262...18,994,235
Ensembl chr 2:18,962,270...18,994,240 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694 		JBrowse link
G BRCA1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847 		JBrowse link
G BSG basigin disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chr 2:77,735,586...77,743,451 JBrowse link
G CASP3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213 		JBrowse link
G CCNB1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr16:47,338,239...47,348,385
Ensembl chr16:47,338,110...47,348,377 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO RGD PMID:9358772 RGD:2293549 NCBI chr 9:67,933,069...67,960,380 JBrowse link
G CDC25A cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067
G CDC25C cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chr 2:140,289,156...140,323,696
Ensembl chr 2:140,289,115...140,324,425 		JBrowse link
G CDH13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr 6:4,809,752...5,832,188
Ensembl chr 6:4,808,255...5,832,415 		JBrowse link
G CDK1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chr14:64,233,945...64,255,290
Ensembl chr14:64,233,987...64,372,197 		JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chr 4:27,986,270...28,013,970
Ensembl chr 4:27,986,866...28,013,945 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565 		JBrowse link
G FANCA FA complementation group A no_association ISO DNA:SNP: :rs11649196 (human)
DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)		 RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr 7:77,921,098...77,978,550
Ensembl chr 7:77,921,145...77,973,078 		JBrowse link
G HOXB13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr12:24,948,307...24,950,661
Ensembl chr12:24,947,687...24,950,714 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508 		JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G KDM3A lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr 3:58,300,109...58,355,000
Ensembl chr 3:58,302,949...58,354,945 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr 9:104,876,301...105,007,161
Ensembl chr 9:104,911,821...105,007,084 		JBrowse link
G LOC100622859 baculoviral IAP repeat-containing protein 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854 		JBrowse link
G LOC100737977 tumor necrosis factor receptor superfamily member 10B-like ISO RGD PMID:16271751 RGD:2290493 NCBI chr14:7,344,788...7,371,086 JBrowse link
G LOC110258578 interleukin-1 beta-like susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015
G MACC1 MET transcriptional regulator MACC1 ISO mRNA:increased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr 9:89,130,971...89,342,181
Ensembl chr 9:89,102,621...89,210,312 		JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr12:61,396,337...61,417,333
Ensembl chr12:61,396,369...61,417,321 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,966...11,018,641 		JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr 7:23,229,508...23,247,739
Ensembl chr 7:23,229,508...23,247,641 		JBrowse link
G MED4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926 		JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336 		JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:32256824 RGD:40925949 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MIR432 microRNA mir-432 ISO mRNA:decreased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr 7:121,711,137...121,711,216
Ensembl chr 7:121,711,137...121,711,216 		JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chr16:78,993,909...79,000,001
Ensembl chr16:78,993,913...79,000,006 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase disease_progression ISO protein:decreased expression:uterine cervix (human) RGD PMID:28631565 RGD:13432557 NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872 		JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,156...32,825,226 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 severity ISO human cells in mouse model
mRNA, protein:increased expression:cervix (human)		 RGD PMID:35853859 RGD:155882439 NCBI chr 4:99,123,564...99,129,218
Ensembl chr 4:99,123,585...99,129,218 		JBrowse link
G SMAD2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357 		JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		JBrowse link
G SPAG5 sperm associated antigen 5 severity ISO mRNA, protein:increased expression:cervix (human) RGD PMID:35853859 RGD:155882439 NCBI chr12:44,827,947...44,848,527
Ensembl chr12:44,827,949...44,848,566 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TP73 tumor protein p73 susceptibility ISO DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) RGD PMID:30420492 RGD:151347580 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270 		JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STK11 serine/threonine kinase 11 disease_progression ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327 		JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific disease_progression ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,983 		JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr 2:17,751,153...17,803,172
Ensembl chr 2:17,750,660...17,803,126 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173 		JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G LOC100622859 baculoviral IAP repeat-containing protein 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MIR31 microRNA mir-31 ISO RNA:increased expression:blood serum (human) RGD PMID:21658006 RGD:152998938 NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809 		JBrowse link
G PDPN podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996 		JBrowse link
G SMAD3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr 5:15,674,028...15,692,944
Ensembl chr 5:15,674,057...15,692,936 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TNFSF4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938 		JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,337...33,242,230 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr 7:29,808,849...29,815,345
Ensembl chr 7:29,808,849...29,815,318 		JBrowse link
G CCND3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr 7:37,087,336...37,182,462
Ensembl chr 7:37,082,097...37,181,366 		JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported
DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia		 RGD PMID:10471491 PMID:11114733 RGD:2289864 RGD:2289865 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922 		JBrowse link
G TK1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr12:3,785,997...3,794,824
Ensembl chr12:3,786,031...3,795,917 		JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple		 RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chr 2:40,673,187...40,720,681 JBrowse link
cervix uteri carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 9:42,644,487...42,984,934
Ensembl chr 9:42,644,431...42,985,017 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363 		JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738 		JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724 		JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CDH1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression ISO protein:increased expression
protein:increased expression:uterine cervix
DNA:hypermethylation		 RGD PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346 RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056 		JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr13:132,819,931...133,084,880
Ensembl chr13:132,820,870...133,086,841 		JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585 		JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)		 RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G LOC110258578 interleukin-1 beta-like susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015
G MGP matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G PDCD1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539 		JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,509,310 		JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 disease_progression ISO associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus		 RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr13:10,900,716...11,360,587
Ensembl chr13:10,900,724...11,359,544 		JBrowse link
G TLR9 toll like receptor 9 disease_progression ISO protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450 		JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G INSR insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO3 forkhead box O3 ISO OMIM:166950 MouseDO NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325 		JBrowse link
dysgerminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMHR2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:ovary RGD PMID:17988723 RGD:2315651 NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2 RGD PMID:17243131 RGD:2289660 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443 NCBI chr 7:23,564,654...23,570,691 JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 1:269,050,447...269,064,462 JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		JBrowse link
endometrial adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT1 angiopoietin 1 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041 		JBrowse link
G ARID1A AT-rich interaction domain 1A treatment ISO human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		JBrowse link
G AXIN2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chr 2:26,475...31,960
Ensembl chr 2:26,478...30,574 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO RGD PMID:11506079 RGD:2326173 NCBI chr 9:67,933,069...67,960,380 JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr 4:27,986,270...28,013,970
Ensembl chr 4:27,986,866...28,013,945 		JBrowse link
G FOXO3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801 		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 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636 		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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		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 chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO protein:decreased phosphorylation:endometrium (human)
human tumor in a mouse model		 RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567 		JBrowse link
G PDCD10 programmed cell death 10 disease_progression ISO protein:increased expression:endometrium (human) RGD PMID:32186778 RGD:401827111 NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr 3:126,357,198...126,367,145
Ensembl chr 3:126,347,819...126,365,644 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr 4:125,109,939...125,310,788
Ensembl chr 4:125,110,072...125,316,796 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:missense mutations
protein:increased expression:endometrium		 RGD PMID:1540970 RGD:2290541 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr 2:40,673,187...40,720,681 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 chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		JBrowse link
G AFP alpha fetoprotein severity ISO protein:increased expression:serum RGD PMID:17659325 RGD:2292039 NCBI chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864 		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 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919 		JBrowse link
G ANG angiogenin ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138 		JBrowse link
G APC APC regulator of WNT signaling pathway severity
treatment		 ISO with Pten knockout
human cells in a mouse model
protein:increased expression:endometrium (human)
DNA:mutations, haplotype:cds:multiple (human)		 RGD PMID:15951972 PMID:22907428 PMID:23288720 PMID:29876005 RGD:13524585 RGD:13524624 RGD:13673916 RGD:13673917 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		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 chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938 		JBrowse link
G AR androgen receptor ISO RGD PMID:15721279 RGD:1578689 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G ARID1A AT-rich interaction domain 1A onset ISO protein:decreased expression:endometrium (human) RGD PMID:23887303 RGD:126779522 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G BAD BCL2 associated agonist of cell death disease progression ISO protein:altered expression:endometrium (human) RGD PMID:24645842 RGD:13432164 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863 		JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,337...33,242,230 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		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 chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697 		JBrowse link
G CD59 CD59 molecule ISO protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chr 2:27,186,587...27,207,303 JBrowse link
G CD9 CD9 molecule ISO RGD PMID:11505398 RGD:2326208 NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304 		JBrowse link
G CDC25B cell division cycle 25B ISO RGD PMID:14559803 RGD:4105451 NCBI chr17:31,910,824...31,929,418
Ensembl chr17:31,910,825...31,929,242 		JBrowse link
G CDC25C cell division cycle 25C ISO DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chr 2:140,289,156...140,323,696
Ensembl chr 2:140,289,115...140,324,425 		JBrowse link
G CDH1 cadherin 1 ISO OMIM NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:deletions:exon (rat) RGD PMID:18558284 RGD:2316081 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131 		JBrowse link
G COMT catechol-O-methyltransferase no_association
susceptibility		 ISO DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter		 RGD PMID:12810635 PMID:15285606 PMID:17442187 RGD:2289714 RGD:2289721 RGD:2289723 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998 		JBrowse link
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr 5:89,257,603...89,480,414
Ensembl chr 5:89,267,944...89,479,712 		JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) RGD PMID:18497059 RGD:2301045 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		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 chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		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 chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		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 2:89,230,660...89,255,830 JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ameliorates
exacerbates		 ISO human EFEMP2 knockdown cell line in a mouse model
protein:decreased expression:endometrium (human)		 RGD PMID:28177909 RGD:42722012 NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G EGF epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO OMIM:608089 MouseDO NCBI chr 6:68,667,651...68,682,629
Ensembl chr 6:68,669,153...68,682,623 		JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,392...144,241,323 		JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916 		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 chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857 		JBrowse link
G HOXB13 homeobox B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chr12:24,948,307...24,950,661
Ensembl chr12:24,947,687...24,950,714 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886 		JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G JAK1 Janus kinase 1 severity ISO DNA:frameshift mutations RGD PMID:29121062 RGD:150524355 NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G MCPH1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr15:37,455,186...37,674,971
Ensembl chr15:37,455,551...37,673,633 		JBrowse link
G MIR21 microRNA mir-21 ISO miRNA:increased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MMP7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:deletions:intron:IVS4_delT (human) RGD PMID:15048091 RGD:2317737 NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		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 2:89,255,647...89,456,102
Ensembl chr 2:89,250,003...89,453,936 		JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		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 chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190 		JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153
G NOTCH4 notch receptor 4 ISO mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO RGD PMID:508567 RGD:2299870 NCBI chr 6:148,851,183...148,918,891
Ensembl chr 6:148,851,183...148,994,952 		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 chr13:79,427,033...79,610,840
Ensembl chr13:79,425,835...79,610,840 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:21478295 RGD:13441595 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ameliorates
onset
disease_progression		 ISO DNA:missense mutations:multiple (human)
DNA:polymorphisms:multiple (human)
DNA:missense mutations:CDS:p.P286R, p.V411L (human)
protein:increased expression:endometrium (human)		 RGD PMID:25224212 PMID:29559562 PMID:29659608 PMID:31866764 RGD:151347644 RGD:151347645 RGD:151347650 RGD:151347857 NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:608089 MouseDO NCBI chr14:99,929,590...100,021,619 JBrowse link
G RAD21 RAD21 cohesin complex component onset ISO DNA:CNV: (human) RGD PMID:25546926 RGD:329322876 NCBI chr 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715 		JBrowse link
G RNF43 ring finger protein 43 ISO DNA:mutations:multiple: (human) RGD PMID:25344691 RGD:151361224 NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:decreased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189 		JBrowse link
G SHBG sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr12:52,914,711...52,919,092 JBrowse link
G SMAD2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357 		JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SMAD7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr 1:98,512,800...98,543,924
Ensembl chr 1:98,514,267...98,542,382 		JBrowse link
G SPAG9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr12:27,225,377...27,370,337
Ensembl chr12:27,202,088...27,370,405 		JBrowse link
G STK11 serine/threonine kinase 11 ISO OMIM:608089 RGD
MouseDO		 PMID:18245476 RGD:2291944 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327 		JBrowse link
G SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 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 chr 8:66,811,536...66,838,181
Ensembl chr 8:66,811,550...66,834,473 		JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		JBrowse link
G TP53 tumor protein p53 ISO OMIM:608089 MouseDO NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G WT1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997 		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 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978 		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 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		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 7:97,893,182...97,940,932
Ensembl chr 7:97,875,220...97,940,876 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G AURKA aurora kinase A ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr17:56,954,838...56,972,435 JBrowse link
G AURKB aurora kinase B disease_progression ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr12:53,410,833...53,426,165
Ensembl chr12:53,410,177...53,423,225 		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 chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		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 chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,780,707...39,782,478
Ensembl chr 3:39,780,940...39,782,466 		JBrowse link
G BSG basigin disease_progression ISO protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 NCBI chr 2:77,735,586...77,743,451 JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25085752 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,794,400...39,811,381
Ensembl chr 3:39,794,293...39,811,009 		JBrowse link
G CCNB1 cyclin B1 ISO RGD PMID:17483252 RGD:2289230 NCBI chr16:47,338,239...47,348,385
Ensembl chr16:47,338,110...47,348,377 		JBrowse link
G CD82 CD82 molecule disease_progression ISO RGD PMID:12684410 RGD:2289403 NCBI chr 2:17,751,153...17,803,172
Ensembl chr 2:17,750,660...17,803,126 		JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDH13 cadherin 13 disease_progression ISO DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chr 6:4,809,752...5,832,188
Ensembl chr 6:4,808,255...5,832,415 		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 chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		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 2:89,230,660...89,255,830 JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,757,725...39,761,497
Ensembl chr 3:39,757,296...39,761,080 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,757,679...39,773,024
Ensembl chr 3:39,761,356...39,772,262 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,750,742...39,758,516
Ensembl chr 3:39,750,742...39,758,516 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 disease_progression ISO RGD PMID:15741767 RGD:2315693 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750 		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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		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 chr12:5,940,723...6,009,095
Ensembl chr12:5,940,647...6,010,835 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta severity ISO protein:increased expression:endometrium (human) RGD PMID:27050373 RGD:13524565 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569 		JBrowse link
G HDAC3 histone deacetylase 3 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399 		JBrowse link
G HRAS HRas proto-oncogene, GTPase disease_progression ISO DNA:snps:cds: (human)
protein:increased expression:endometrial stroma, cytoplasm (human)		 RGD PMID:8960147 PMID:9641239 RGD:13441555 RGD:13781876 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		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 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636 		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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 severity ISO protein:increased expression:endometrium (human)
protein:increased phosphorylation:endometrium (human)		 RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 severity ISO protein:increased expression:endometrium (human)
protein:increased phosphorylation:endometrium (human)		 RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567 		JBrowse link
G MIR152 microRNA mir-152 ISO DNA:hypermethylation RGD PMID:21327300 RGD:21066329 NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336 		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 chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,778,746...39,786,206
Ensembl chr 3:39,778,754...39,788,285 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO RGD PMID:10502722 RGD:2306086 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		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 chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		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 2:89,255,647...89,456,102
Ensembl chr 2:89,250,003...89,453,936 		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 chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		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 chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr 3:113,997,214...114,251,080
Ensembl chr 3:113,999,253...114,250,298 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr14:28,642,774...28,819,404
Ensembl chr14:28,624,702...28,819,404 		JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:9276029 RGD:2292090 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,776,815...39,779,669
Ensembl chr 3:39,762,608...39,778,011 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:23636398 RGD:13628733 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		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 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628 		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 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085 		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 chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:11371124 RGD:2292462 NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554 		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 chr14:99,929,590...100,021,619 JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035 		JBrowse link
G PTK2 protein tyrosine kinase 2 severity ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054 		JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,831,981...39,837,510
Ensembl chr 3:39,831,981...39,837,515 		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 chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,156...32,825,226 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,739,058...39,749,600
Ensembl chr 3:39,739,308...39,750,005 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:promoter:hypermethylated RGD PMID:18572225 RGD:2302555 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026 		JBrowse link
G SFN stratifin ISO RGD PMID:16271083 RGD:2299931 NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827 		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 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 8:825,433...835,425
Ensembl chr 8:824,999...837,322 		JBrowse link
G TFF1 trefoil factor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
G WNT2 Wnt family member 2 ISO mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr18:28,945,825...28,993,969
Ensembl chr18:28,946,326...28,993,961 		JBrowse link
G WNT3 Wnt family member 3 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr12:17,627,291...17,681,197
Ensembl chr12:17,628,726...17,681,026 		JBrowse link
G WNT4 Wnt family member 4 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 6:80,110,238...80,138,165 JBrowse link
G WNT5A Wnt family member 5A ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr13:37,344,684...37,367,215
Ensembl chr13:37,344,699...37,367,207 		JBrowse link
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215 		JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CDC25B cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr17:31,910,824...31,929,418
Ensembl chr17:31,910,825...31,929,242 		JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chr 2:140,289,156...140,323,696
Ensembl chr 2:140,289,115...140,324,425 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853 		JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 4:110,819,422...110,845,354
Ensembl chr 4:110,819,428...110,845,132 		JBrowse link
G CSRP1 cysteine and glycine rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr10:23,843,130...23,864,020
Ensembl chr10:23,843,134...23,864,016 		JBrowse link
G DDX1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 3:121,818,400...121,856,667
Ensembl chr 3:121,818,406...121,856,604 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054 		JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,509,310 		JBrowse link
G TFF1 trefoil factor 1 ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460 		JBrowse link
Endometrial Hyperplasia without Atypia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial hyperplasia without atypia ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
Endometrial Intraepithelial Neoplasia 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 ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 More... NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr14:99,929,590...100,021,619 JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		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 chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		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 chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		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 mRNA, protein:decreased expression:endometrium (human) RGD PMID:18570730 RGD:13432144 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G AREG amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102 		JBrowse link
G ATP7B ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363 		JBrowse link
G CDH1 cadherin 1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDK2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G DAXX death domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072 		JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:decreased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G ENO2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565 		JBrowse link
G ESR1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		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 chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr12:53,115,379...53,117,128
NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967 		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 chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 2:103,568,366...103,659,589
Ensembl chr 2:103,567,602...103,661,070 		JBrowse link
G LOC100524016 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 3:41,025,892...41,029,302 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO DNA:hypermethylation RGD PMID:17504987 RGD:2290483 NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		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 chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		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 chr14:99,929,590...100,021,619 JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		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 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr 5:29,450,442...29,543,913
Ensembl chr 5:29,450,442...29,543,913 		JBrowse link
Familial Prostate Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 6:19,523,618...19,570,891
Ensembl chr 6:19,527,648...19,570,893 		JBrowse link
G AR androgen receptor ISO ClinVar Annotator: match by term: Prostate cancer susceptibility ClinVar PMID:8530589 PMID:10589774 PMID:11103816 PMID:28492532 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386 		JBrowse link
G ATAT1 alpha tubulin acetyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 7:23,173,138...23,185,463
Ensembl chr 7:23,173,438...23,185,451 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Familial prostate cancer ClinVar PMID:15928302 PMID:16199547 PMID:16941484 PMID:17124347 PMID:17910737 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 9:60,995,280...61,020,300
Ensembl chr 9:60,995,277...61,020,103 		JBrowse link
G BCAS1 brain enriched myelin associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr17:54,920,714...55,039,470
Ensembl chr17:54,920,712...55,039,346 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BCL2L11 BCL2 like 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 3:45,156,791...45,202,996
Ensembl chr 3:45,160,155...45,201,186 		JBrowse link
G BLTP3A bridge-like lipid transfer protein family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 7:30,731,466...30,799,958
Ensembl chr 7:30,731,461...30,802,735 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Familial prostate cancer ClinVar PMID:17319787 PMID:18489799 PMID:20104584 PMID:21203900 PMID:25525159 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary prostate cancer ClinVar PMID:186727 PMID:8524414 PMID:8665505 PMID:9012404 PMID:9150154 More... NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Familial prostate cancer ClinVar PMID:15928302 PMID:16941484 PMID:17124347 PMID:17910737 PMID:19431188 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710 		JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		JBrowse link
G CDCA7 cell division cycle associated 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr15:79,406,837...79,447,571
Ensembl chr15:79,432,667...79,447,568 		JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Hereditary prostate cancer | ClinVar Annotator: match by term: Prostate cancer susceptibility ClinVar PMID:11948460 PMID:14961571 PMID:15235021 PMID:16061854 PMID:16189707 More... NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr12:53,135,767...53,163,244
Ensembl chr12:53,139,366...53,163,243 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary prostate cancer | ClinVar Annotator: match by term: Prostate cancer susceptibility ClinVar PMID:9536098 PMID:12454775 PMID:12610780 PMID:15095295 PMID:15818573 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:79,766,260...80,141,296
Ensembl chr 2:79,766,150...80,141,293 		JBrowse link
G DENND4B DENN domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 4:95,745,878...95,762,192
Ensembl chr 4:95,748,140...95,761,519 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr16:53,843,248...54,248,708
Ensembl chr16:53,843,252...54,248,638 		JBrowse link
G EMSY EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 9:10,628,053...10,715,814
Ensembl chr 9:10,628,053...10,716,396 		JBrowse link
G FBRSL1 fibrosin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr14:22,890,052...22,977,364
Ensembl chr14:22,887,227...22,977,450 		JBrowse link
G HAUS6 HAUS augmin like complex subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:203,720,253...203,771,222
Ensembl chr 1:203,720,264...203,771,138 		JBrowse link
G HOXB13 homeobox B13 ISO ClinVar Annotator: match by term: Prostate cancer susceptibility ClinVar PMID:8756292 PMID:15964834 PMID:17138648 PMID:22236224 PMID:22714738 More... NCBI chr12:24,948,307...24,950,661
Ensembl chr12:24,947,687...24,950,714 		JBrowse link
G INCENP inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:9,411,942...9,445,825
Ensembl chr 2:9,411,942...9,445,821 		JBrowse link
G ITGB8 integrin subunit beta 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 9:89,342,245...89,450,701
Ensembl chr 9:89,341,162...89,448,665 		JBrowse link
G KDM2A lysine demethylase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:5,238,690...5,357,799
Ensembl chr 2:5,240,312...5,357,829 		JBrowse link
G KNL1 kinetochore scaffold 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:130,652,493...130,728,989 JBrowse link
G LARP4B La ribonucleoprotein 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr10:68,621,596...68,707,894 JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 3:1,236,066...1,559,346
Ensembl chr 3:1,236,076...1,559,041 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:103,683,077...103,768,372
Ensembl chr 1:103,735,192...103,752,402 		JBrowse link
G MBNL1 muscleblind like splicing regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr13:92,491,778...92,696,235
Ensembl chr13:92,491,808...92,696,230 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MOB2 MOB kinase activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:959,203...993,674
Ensembl chr 2:958,904...971,402 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Hereditary prostate cancer ClinVar PMID:18269114 PMID:24362816 PMID:25741868 PMID:28492532 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G MYO9B myosin IXB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:60,455,605...60,567,479
Ensembl chr 2:60,455,607...60,567,467 		JBrowse link
G PAX9 paired box 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310 		JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 9:52,303,022...52,608,505
Ensembl chr 9:52,349,714...52,610,680 		JBrowse link
G POU2F2 POU class 2 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 6:49,791,937...49,829,771
Ensembl chr 6:49,727,012...49,825,816 		JBrowse link
G PPFIBP2 PPFIA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 9:1,984,717...2,141,428
Ensembl chr 9:1,987,841...2,141,398 		JBrowse link
G RASSF3 Ras association domain family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 5:28,949,787...29,113,894
Ensembl chr 5:29,025,549...29,113,890 		JBrowse link
G RFX7 regulatory factor X7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:115,732,167...115,871,951
Ensembl chr 1:115,734,347...115,871,084 		JBrowse link
G RNASEL ribonuclease L ISO ClinVar Annotator: match by term: Prostate cancer susceptibility ClinVar PMID:12415269 PMID:16609730 PMID:25741868 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398 		JBrowse link
G RNF43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378 		JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr14:100,312,592...100,604,953
Ensembl chr14:100,317,625...100,605,063 		JBrowse link
G SLA-DOA major histocompatibility complex, class II, DO alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 7:25,178,866...25,182,665
Ensembl chr 7:25,178,881...25,182,707 		JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr18:53,639,588...54,283,272
Ensembl chr18:53,639,872...54,283,251 		JBrowse link
G TCF4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:104,718,809...105,079,919
Ensembl chr 1:104,719,151...105,079,919 		JBrowse link
G TCF7L2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr14:123,343,695...123,547,332
Ensembl chr14:123,343,412...123,546,417 		JBrowse link
G TOR1A torsin family 1 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:269,975,919...269,985,478
Ensembl chr 1:269,974,935...269,985,523 		JBrowse link
G TSHZ1 teashirt zinc finger homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:148,905,179...148,984,984
Ensembl chr 1:148,906,075...148,984,832 		JBrowse link
G TTC28 tetratricopeptide repeat domain 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr14:45,317,793...45,925,026
Ensembl chr14:45,320,600...45,925,098 		JBrowse link
familiar ovarian carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Familial ovarian carcinoma ClinVar PMID:25741868 PMID:33832919 NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016 		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 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 PMID:25741868 NCBI chr 6:59,112,811...59,150,916 JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr 7:23,564,654...23,570,691 JBrowse link
granulosa cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMH anti-Mullerian hormone disease_progression ISO RGD PMID:19359032 RGD:2315639 NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CCND2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056 		JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr14:42,420,166...42,468,080
Ensembl chr14:42,420,177...42,468,058 		JBrowse link
G CTNNB1 catenin beta 1 ISO RGD
MouseDO		 PMID:16488995 RGD:1643593 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G FANCF FA complementation group F susceptibility
disease_progression		 ISO DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:11049141 RGD:2298508 NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) RGD PMID:11994539 PMID:15967102 RGD:2289157 RGD:2302176 NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		JBrowse link
G PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 9:106,851,044...106,957,519
Ensembl chr 9:106,851,031...106,957,510 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr18:55,903,693...55,906,976
Ensembl chr18:55,903,699...55,906,945 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 ISO mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 1:29,625,786...29,753,619
Ensembl chr 1:29,745,114...29,753,602 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994 		JBrowse link
G SMAD5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 2:138,287,635...138,344,092
Ensembl chr 2:138,287,710...138,344,762 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 5:29,450,442...29,543,913
Ensembl chr 5:29,450,442...29,543,913 		JBrowse link
Granulosa Cell Tumor of the Ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor of the ovary ClinVar PMID:2116665 NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794 		JBrowse link
hereditary breast ovarian cancer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1CF APOBEC1 complementation factor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr14:98,908,585...98,990,362
Ensembl chr14:98,908,630...98,987,524 		JBrowse link
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,979,602 		JBrowse link
G ABCG2A ATP binding cassette subfamily G member 2A ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,444...130,945,393 		JBrowse link
G ABRAXAS1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr 8:135,002,297...135,021,205
Ensembl chr 8:135,002,321...135,023,335 		JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,457...38,824,712 		JBrowse link
G ACBD4 acyl-CoA binding domain containing 4 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:18,271,835...18,281,639
Ensembl chr12:18,272,797...18,281,595 		JBrowse link
G ACSF2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:26,713,790...26,752,352
Ensembl chr12:26,713,785...26,761,140 		JBrowse link
G ADAM11 ADAM metallopeptidase domain 11 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:18,575,716...18,597,415
Ensembl chr12:18,575,719...18,597,356 		JBrowse link
G AKAP1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:33,396,473...33,410,395
Ensembl chr12:33,396,473...33,411,440 		JBrowse link
G AMH anti-Mullerian hormone ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312 		JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848 		JBrowse link
G ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:32,479,469...32,823,527
Ensembl chr12:32,321,340...32,821,340 		JBrowse link
G ANKRD31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 2:84,148,363...84,320,823
Ensembl chr 2:84,149,358...84,366,190 		JBrowse link
G ANKRD40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:26,978,213...26,995,760
Ensembl chr12:26,978,215...26,995,714 		JBrowse link
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G ARF2 ADP-ribosylation factor 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:17,432,594...17,447,976 JBrowse link
G ARHGAP27 Rho GTPase activating protein 27 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:18,037,007...18,069,989
Ensembl chr12:18,037,138...18,082,348 		JBrowse link
G ARL4D ADP ribosylation factor like GTPase 4D ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859 NCBI chr12:19,649,379...19,651,366
Ensembl chr12:19,648,207...19,651,312 		JBrowse link
G ASB16 ankyrin repeat and SOCS box containing 16 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr12:19,033,471...19,040,481
Ensembl chr12:19,033,482...19,040,221 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:100011 PMID:581456 PMID:988733 PMID:1160401 PMID:1739330