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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 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:epithelial cell:		 CTD
RGD		 PMID:23196782 PMID:25555457 RGD:10053626 NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043 		JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985049 PMID:24740322 PMID:28500234 PMID:28757136 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912 		JBrowse link
G ASF1B anti-silencing function 1B histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr20:48,398,615...48,406,889 JBrowse link
G CCNE2 cyclin E2 treatment ISO RGD PMID:27431942 RGD:13504681 NCBI chr29:39,534,872...39,551,141
Ensembl chr29:39,534,968...39,546,566 		JBrowse link
G CENPK centromere protein K ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr 2:51,262,475...51,300,016
Ensembl chr 2:51,263,185...51,292,425 		JBrowse link
G CHD1 chromodomain helicase DNA binding protein 1 ISO DNA:mutations: : RGD PMID:22722839 RGD:9587749 NCBI chr 3:11,288,873...11,359,972
Ensembl chr 3:11,288,244...11,359,208 		JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30185663 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex treatment ISO RGD PMID:28498618 RGD:28867238 NCBI chr38:19,574,122...19,599,821
Ensembl chr38:19,574,125...19,599,064 		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 chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103 		JBrowse link
G TRIM24 tripartite motif containing 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27238081 NCBI chr16:10,033,993...10,133,450
Ensembl chr16:10,034,390...10,133,435 		JBrowse link
G ZNF217 zinc finger protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr24:39,411,531...39,423,614
Ensembl chr24:39,412,277...39,438,204 		JBrowse link
G ZNF367 zinc finger protein 367 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr 1:70,461,631...70,485,380
Ensembl chr 1:70,461,776...70,483,053 		JBrowse link
cervical adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPINK1 serine peptidase inhibitor Kazal type 1 ISO RGD PMID:2258083 RGD:2300391 NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706 		JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422 		JBrowse link
G API5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr18:26,326,387...26,355,580
Ensembl chr18:26,327,920...26,355,585 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771 		JBrowse link
G BRCA1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G BSG basigin disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061 		JBrowse link
G CASP3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CCNB1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr 2:54,256,957...54,264,749 JBrowse link
G CD55 CD55 molecule ISO RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226 		JBrowse link
G CDC25A cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608 		JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744 		JBrowse link
G CDH13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255 		JBrowse link
G CDK1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)		 RGD PMID:16425277 PMID:25893807 RGD:36174015 RGD:36174023 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA88 MHC class I DLA-88 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7 RGD PMID:12543794 RGD:2314696 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G FANCA FA complementation group A no_association ISO DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
DNA:SNP: :rs11649196 (human)		 RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: 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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G HOXB13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797 		JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL1B interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G KDM3A lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr17:38,690,962...38,744,507
Ensembl chr17:38,690,979...38,743,739 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr18:15,240,631...15,332,850
Ensembl chr18:15,239,994...15,332,828 		JBrowse link
G LOC475399 heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr15:18,239,810...18,299,065 JBrowse link
G MACC1 MET transcriptional regulator MACC1 ISO mRNA:increased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr14:34,189,983...34,271,998
Ensembl chr14:34,075,463...34,251,330 		JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026 		JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr12:496,353...509,812
Ensembl chr12:496,878...507,442 		JBrowse link
G MED4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608 		JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225 		JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:32256824 RGD:40925949 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR432 microRNA mir-432 ISO mRNA:decreased expression:cervical region (human) RGD PMID:33603486 RGD:152999025 NCBI chr 8:69,106,415...69,106,501
Ensembl chr 8:69,106,415...69,106,501 		JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase disease_progression ISO protein:decreased expression:uterine cervix (human) RGD PMID:28631565 RGD:13432557 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764 		JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585 		JBrowse link
G 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 chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991 		JBrowse link
G SMAD2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983 		JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063 		JBrowse link
G SPAG5 sperm associated antigen 5 severity ISO mRNA, protein:increased expression:cervix (human) RGD PMID:35853859 RGD:155882439 NCBI chr 9:42,783,224...42,804,568
Ensembl chr 9:42,783,235...42,804,456 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TP73 tumor protein p73 susceptibility ISO DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) RGD PMID:30420492 RGD:151347580 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033 		JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STK11 serine/threonine kinase 11 disease_progression ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific disease_progression ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255 		JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748 		JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR31 microRNA mir-31 ISO RNA:increased expression:blood serum (human) RGD PMID:21658006 RGD:152998938 NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503 		JBrowse link
G PDPN podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375 		JBrowse link
G SMAD3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761 		JBrowse link
G TNFSF4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422 		JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018 		JBrowse link
G CCND3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891 		JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia
DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported		 RGD PMID:10471491 PMID:11114733 RGD:2289864 RGD:2289865 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G TK1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064 		JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple		 RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808 		JBrowse link
cervix uteri carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 5:17,865,317...18,190,855
Ensembl chr 5:17,864,453...18,194,694 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649 		JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211 		JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522 		JBrowse link
G CDH1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression ISO protein:increased expression
DNA:hypermethylation
protein:increased expression:uterine cervix		 RGD PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346 RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091 		JBrowse link
G DLA-DRB1 MHC class II DLA DRB1 beta chain ISO associated with Papillomavirus Infections RGD PMID:10073700 PMID:15458897 PMID:18351579 RGD:2306230 RGD:2306232 RGD:2314703 NCBI chr12:2,151,409...2,164,564 JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547 		JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578 		JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)		 RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G IL1B interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MGP matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G PDCD1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr22:31,992,657...31,997,066 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307 		JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 disease_progression ISO associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus		 RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283 		JBrowse link
G TLR9 toll like receptor 9 disease_progression ISO protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496 		JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582 		JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G INSR insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288 		JBrowse link
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 chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		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 chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533 		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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		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 chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 9:54,896,464...54,907,698 JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
endometrial adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT1 angiopoietin 1 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701 		JBrowse link
G ARID1A AT-rich interaction domain 1A treatment ISO human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G AXIN2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299 		JBrowse link
G CD55 CD55 molecule ISO RGD PMID:11506079 RGD:2326173 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226 		JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501 		JBrowse link
G FOXO3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit no_association ISO protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade RGD PMID:10684716 RGD:2290482 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) RGD PMID:10775052 RGD:1600499 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO protein:decreased phosphorylation:endometrium (human)
human tumor in a mouse model		 RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)		 RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G PDCD10 programmed cell death 10 disease_progression ISO protein:increased expression:endometrium (human) RGD PMID:32186778 RGD:401827111 NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr 6:57,025,096...57,220,240
Ensembl chr 6:57,025,112...57,217,121 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:missense mutations
protein:increased expression:endometrium		 RGD PMID:1540970 RGD:2290541 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808 		JBrowse link
endometrial cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 susceptibility ISO associated with Obesity;DNA:polymorphism: :p.W64R (human) RGD PMID:15743038 RGD:2313164 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521 		JBrowse link
G AFP alpha fetoprotein severity ISO protein:increased expression:serum RGD PMID:17659325 RGD:2292039 NCBI chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 severity ISO DNA:snp:intron:c.287+993G>A (rs892119) (human) RGD PMID:22146979 RGD:13432140 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131 		JBrowse link
G APC APC regulator of WNT signaling pathway treatment
severity		 ISO human cells in a mouse model
protein:increased expression:endometrium (human)
DNA:mutations, haplotype:cds:multiple (human)
with Pten knockout		 RGD PMID:15951972 PMID:22907428 PMID:23288720 PMID:29876005 RGD:13524585 RGD:13524624 RGD:13673916 RGD:13673917 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) RGD PMID:11465542 RGD:2315878 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422 		JBrowse link
G AR androgen receptor ISO RGD PMID:15721279 RGD:1578689 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912 		JBrowse link
G ARID1A AT-rich interaction domain 1A onset ISO protein:decreased expression:endometrium (human) RGD PMID:23887303 RGD:126779522 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G BAD BCL2 associated agonist of cell death disease progression ISO protein:altered expression:endometrium (human) RGD PMID:24645842 RGD:13432164 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405 		JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:endometrium RGD PMID:15297164 RGD:2293886 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:endometrium RGD PMID:17311011 RGD:1643476 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:deletion, frameshift mutation RGD PMID:10451700 RGD:2296027 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 treatment ISO protein:increased expression:endometrium: RGD PMID:22729361 PMID:26498112 RGD:14398492 RGD:14398498 NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178 		JBrowse link
G CD59 CD59 molecule ISO protein:increased expression:endometrium RGD PMID:10637067 RGD:2293548 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329 		JBrowse link
G CD9 CD9 molecule ISO RGD PMID:11505398 RGD:2326208 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576 		JBrowse link
G CDC25B cell division cycle 25B ISO RGD PMID:14559803 RGD:4105451 NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759 		JBrowse link
G CDC25C cell division cycle 25C ISO DNA:mutation (human) RGD PMID:12124347 RGD:4105455 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744 		JBrowse link
G CDH1 cadherin 1 ISO OMIM NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:deletions:exon (rat) RGD PMID:18558284 RGD:2316081 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427 		JBrowse link
G COMT catechol-O-methyltransferase susceptibility
no_association		 ISO DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter		 RGD PMID:12810635 PMID:15285606 PMID:17442187 RGD:2289714 RGD:2289721 RGD:2289723 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) RGD PMID:18497059 RGD:2301045 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA) RGD PMID:18318428 RGD:2301040 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) RGD PMID:18497059 RGD:2301045 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135 		JBrowse link
G DHFR dihydrofolate reductase ISO ClinVar Annotator: match by term: MSH3-related condition ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29641532 PMID:36652909 NCBI chr 3:26,521,214...26,556,065 JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates
ameliorates		 ISO protein:decreased expression:endometrium (human)
human EFEMP2 knockdown cell line in a mouse model		 RGD PMID:28177909 RGD:42722012 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107 		JBrowse link
G EGF epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO OMIM:608089 MouseDO NCBI chr 5:61,621,964...61,636,152
Ensembl chr 5:61,622,550...61,636,148 		JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619 		JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G GHRH growth hormone releasing hormone ISO mRNA:increased expression:tumor:expression in 17/22 specimens RGD PMID:10022420 PMID:15784701 RGD:2289974 RGD:2301423 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712 		JBrowse link
G HOXB13 homeobox B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399 		JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G JAK1 Janus kinase 1 severity ISO DNA:frameshift mutations RGD PMID:29121062 RGD:150524355 NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G LOC482182 sulfotransferase 1E1 ISO DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT) RGD PMID:18318428 RGD:2301040 NCBI chr13:59,323,430...59,343,745 JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		JBrowse link
G MCPH1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr16:58,306,761...58,529,090
Ensembl chr16:58,295,280...58,529,433 		JBrowse link
G MIR21 microRNA mir-21 ISO miRNA:increased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Endometrial cancer ClinVar
OMIM		 PMID:12702580 PMID:28195393 PMID:28492532 PMID:31297992 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102 		JBrowse link
G MMP7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:deletions:intron:IVS4_delT (human) RGD PMID:15048091 RGD:2317737 NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119 		JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: MSH3-related condition OMIM
ClinVar		 PMID:2635641 PMID:8782829 PMID:11470537 PMID:20981092 PMID:21128252 More... NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521 		JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:2914711 PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 More... NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539 		JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA:increased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA:decreased expression:endometrium RGD PMID:11078798 RGD:2299153 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO RGD PMID:508567 RGD:2299870 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta onset ISO mRNA:increased expression:endometrium (human) RGD PMID:28002804 RGD:13674181 NCBI chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:21478295 RGD:13441595 NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21984976 RGD:13674179 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit onset
disease_progression
ameliorates		 ISO DNA:polymorphisms:multiple (human)
protein:increased expression:endometrium (human)
DNA:missense mutations:CDS:p.P286R, p.V411L (human)
DNA:missense mutations:multiple (human)		 RGD PMID:25224212 PMID:29559562 PMID:29659608 PMID:31866764 RGD:151347644 RGD:151347645 RGD:151347650 RGD:151347857 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917 		JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:608089 MouseDO NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G RAD21 RAD21 cohesin complex component onset ISO DNA:CNV: (human) RGD PMID:25546926 RGD:329322876 NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035 		JBrowse link
G RNF43 ring finger protein 43 ISO DNA:mutations:multiple: (human) RGD PMID:25344691 RGD:151361224 NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:decreased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G SHBG sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624 		JBrowse link
G SMAD2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983 		JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337 		JBrowse link
G SMAD7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749 		JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr15:33,761,434...33,788,973
Ensembl chr15:33,785,545...33,877,869 		JBrowse link
G SPAG9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr 9:26,820,381...26,966,315
Ensembl chr 9:26,820,002...26,966,300 		JBrowse link
G STK11 serine/threonine kinase 11 ISO OMIM:608089 RGD
MouseDO		 PMID:18245476 RGD:2291944 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO RGD PMID:16985250 RGD:1581436 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489 		JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		JBrowse link
G TP53 tumor protein p53 ISO OMIM:608089 MouseDO NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G WT1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
endometrial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		JBrowse link
G APC APC regulator of WNT signaling pathway onset ISO DNA:hypermethylation:promoter: (human)
ClinVar Annotator: match by term: Endometrial carcinoma		 RGD
ClinVar		 PMID:19900189 PMID:25741868 PMID:28492532 PMID:32885271 RGD:13524625 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 NCBI chr 8:47,798,946...47,819,364
Ensembl chr 8:47,801,895...47,819,318 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:133608 PMID:1300551 PMID:8845835 PMID:8968760 PMID:10425038 More... NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G AURKA aurora kinase A ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791 		JBrowse link
G AURKB aurora kinase B disease_progression ISO mRNA, protein:increased expression:endometrium RGD PMID:16311121 RGD:2293878 NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20077502 PMID:21344236 PMID:25330149 PMID:25741868 PMID:25980754 More... NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7545954 PMID:7581445 PMID:7837387 PMID:7894492 PMID:8531967 More... NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8075631 PMID:8524414 PMID:8673091 PMID:8673092 PMID:8758903 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,760,164...38,761,718
Ensembl chr 6:38,758,254...38,761,735 		JBrowse link
G BSG basigin disease_progression ISO protein:increased expression:endometrium RGD PMID:17342307 RGD:2296029 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061 		JBrowse link
G C5H11orf65 chromosome 5 C11orf65 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:25085752 More... NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,776,710...38,788,253
Ensembl chr 6:38,776,710...38,786,727 		JBrowse link
G CCNB1 cyclin B1 ISO RGD PMID:17483252 RGD:2289230 NCBI chr 2:54,256,957...54,264,749 JBrowse link
G CD82 CD82 molecule disease_progression ISO RGD PMID:12684410 RGD:2289403 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768 		JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDH13 cadherin 13 disease_progression ISO DNA:hypomethylation RGD PMID:18519763 RGD:2298985 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:9536098 PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G DHFR dihydrofolate reductase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:9536098 PMID:17576681 PMID:20154325 PMID:25741868 PMID:26467025 More... NCBI chr 3:26,521,214...26,556,065 JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,743,346...38,752,427
Ensembl chr 6:38,743,355...38,752,403 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,729,729...38,738,357
Ensembl chr 6:38,730,219...38,738,219 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:28492532 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 disease_progression ISO RGD PMID:15741767 RGD:2315693 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:decreased expression:endometrium RGD PMID:9070494 RGD:2301091 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7719344 PMID:8651276 PMID:8696350 PMID:9002682 PMID:9462761 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G GRB2 growth factor receptor bound protein 2 severity ISO Shc-Grb2 complex;protein:increased expression:serum (human) RGD PMID:22459351 RGD:13441552 NCBI chr 9:5,108,128...5,182,091
Ensembl chr 9:5,117,164...5,180,296 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta severity ISO protein:increased expression:endometrium (human) RGD PMID:27050373 RGD:13524565 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666 		JBrowse link
G HDAC3 histone deacetylase 3 disease_progression ISO RGD PMID:18714364 RGD:2306205 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682 		JBrowse link
G HRAS HRas proto-oncogene, GTPase disease_progression ISO protein:increased expression:endometrial stroma, cytoplasm (human)
DNA:snps:cds: (human)		 RGD PMID:8960147 PMID:9641239 RGD:13441555 RGD:13781876 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027) RGD PMID:15800680 RGD:2290481 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KISS1 KiSS-1 metastasis suppressor disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:15949424 RGD:2302170 NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:16474405 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LOC119872409 small nucleolar RNA SNORD60 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G MAPK1 mitogen-activated protein kinase 1 severity ISO protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)		 RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 severity ISO protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)		 RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MIR152 microRNA mir-152 ISO DNA:hypermethylation RGD PMID:21327300 RGD:21066329 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1756143 PMID:7728749 PMID:8566964 PMID:8571956 PMID:8574961 More... NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:25741868 PMID:28492532 More... NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,759,713...38,765,556
Ensembl chr 6:38,762,103...38,765,488 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO RGD PMID:10502722 RGD:2306086 NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1586275 PMID:7585065 PMID:8640829 PMID:9222765 PMID:9536098 More... NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:2635641 PMID:8782829 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:183784 PMID:183865 PMID:216699 PMID:503524 PMID:580154 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:11818965 PMID:12606733 PMID:15987719 PMID:16140997 PMID:16338133 More... NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr17:18,880,676...19,124,300
Ensembl chr17:18,880,383...19,122,258 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO mRNA:increased expression:endometrium RGD PMID:14751175 RGD:2298984 NCBI chr26:5,352,670...5,493,741
Ensembl chr26:5,331,459...5,493,830 		JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression ISO protein:increased expression:endometrium RGD PMID:9276029 RGD:2292090 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:17200668 PMID:20091115 PMID:21285249 PMID:21365267 PMID:22241545 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:23636398 RGD:13628733 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7628019 PMID:7704024 PMID:8072530 PMID:8993976 PMID:9683794 More... NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12376507 PMID:17145065 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917 		JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:11371124 RGD:2292462 NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1945792 PMID:7728760 PMID:8980400 PMID:9259288 PMID:9326929 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:18416056 RGD:2300125 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTK2 protein tyrosine kinase 2 severity ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,806,750...38,812,541
Ensembl chr 6:38,807,487...38,812,379 		JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:20400964 PMID:21990120 PMID:24800917 PMID:25741868 PMID:26681312 More... NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405 		JBrowse link
G RASSF1 Ras association domain family member 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,719,713...38,729,437
Ensembl chr 6:38,719,792...38,728,773 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:promoter:hypermethylated RGD PMID:18572225 RGD:2302555
G SFN stratifin ISO RGD PMID:16271083 RGD:2299931 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537 		JBrowse link
G SMAD4 SMAD family member 4 severity ISO DNA:substitutions:promoter
mRNA:decreased expression:endometrium		 RGD PMID:10331746 PMID:15385128 RGD:2299966 RGD:2300009 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024 		JBrowse link
G TFF1 trefoil factor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089 		JBrowse link
G TP53 tumor protein p53 severity ISO protein:increased expression:epithelial cell, endometrium
ClinVar Annotator: match by term: Endometrial carcinoma		 RGD
ClinVar		 PMID:18431720 PMID:25741868 PMID:28492532 RGD:2298525 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		JBrowse link
G WNT2 Wnt family member 2 ISO mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr14:56,123,735...56,172,113
Ensembl chr14:56,129,248...56,172,069 		JBrowse link
G WNT4 Wnt family member 4 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111 		JBrowse link
G WNT5A Wnt family member 5A ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr20:34,756,430...34,790,937
Ensembl chr20:34,769,930...34,786,673 		JBrowse link
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		JBrowse link
G CDC25B cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759 		JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr18:46,860,636...46,861,697 JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 6:42,547,638...42,573,407
Ensembl chr 6:42,548,983...42,573,962 		JBrowse link
G CSRP1 cysteine and glycine rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 7:1,400,650...1,421,918
Ensembl chr 7:1,397,912...1,421,007 		JBrowse link
G DDX1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr17:11,432,060...11,467,000
Ensembl chr17:11,432,136...11,466,990 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307 		JBrowse link
G TFF1 trefoil factor 1 ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
Endometrial 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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		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 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
endometrial serous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma ClinVar NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Papillary carcinoma of the corpus uteri ClinVar PMID:18269114 PMID:21642682 PMID:24362816 PMID:25741868 PMID:28492532 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
endometrial stromal sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:tumor:increased in 6/8 (75%) of tumors RGD PMID:17367465 RGD:2292170 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
Endometrioid Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO mRNA, protein:decreased expression:endometrium (human) RGD PMID:18570730 RGD:13432144 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G AREG amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738 		JBrowse link
G ATP7B ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649 		JBrowse link
G CDH1 cadherin 1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDK2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G DAXX death domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900 		JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:decreased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G ENO2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G ESR1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO DNA:mutations:exons,intron, splice site:varied mutations in different patients, mutations are somatic but identical germline mutations are associated with craniosynostosis and skeletal dysplasia syndromes RGD PMID:17525745 RGD:2289862 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G INHA inhibin subunit alpha ISO protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue RGD PMID:17143484 RGD:2290368 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794 		JBrowse link
G KDR kinase insert domain receptor severity ISO protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) RGD PMID:16557278 RGD:2291929 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183 		JBrowse link
G LOC611363 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 6:39,827,985...39,834,945 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO DNA:hypermethylation RGD PMID:17504987 RGD:2290483
G PDGFRA platelet derived growth factor receptor alpha ISO protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ameliorates ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Endometrioid adenocarcinoma		 RGD
ClinVar		 PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More... RGD:151347648 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917 		JBrowse link
G PTEN phosphatase and tensin homolog ISO DNA:loss of heterozygosity, mutations:multiple (human)
DNA:mutations: :multiple		 RGD PMID:11156411 PMID:17418409 RGD:12802357 RGD:2289817 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO associated with Ovarian Neoplasms;protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859 		JBrowse link
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 2:58,805,737...58,842,618
Ensembl chr 2:58,805,834...58,852,684 		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 chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912 		JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr  X:7,704,838...8,188,358
Ensembl chr  X:7,706,156...7,951,557 		JBrowse link
G ATAT1 alpha tubulin acetyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr12:441,847...456,349
Ensembl chr12:441,895...456,152 		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 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 5:741,231...747,641
Ensembl chr 5:745,747...748,899 		JBrowse link
G BCAS1 brain enriched myelin associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr24:39,702,242...39,799,787
Ensembl chr24:39,699,931...39,800,185 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BCL2L11 BCL2 like 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr17:35,619,804...35,665,782
Ensembl chr17:35,619,582...35,664,587 		JBrowse link
G BLTP3A bridge-like lipid transfer protein family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr12:4,027,333...4,087,988
Ensembl chr12:4,027,455...4,089,578 		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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary prostate cancer ClinVar PMID:186727 PMID:8524414 PMID:8665505 PMID:9012404 PMID:9150154 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G C5H11orf65 chromosome 5 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 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291 		JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
G CDCA7 cell division cycle associated 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr36:17,572,311...17,586,414 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 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965 		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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr11:2,997,504...3,319,948
Ensembl chr11:2,997,021...3,318,867 		JBrowse link
G CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 no_association ISO RGD PMID:15180491 RGD:5685600 NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352 		JBrowse link
G DENND4B DENN domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577 		JBrowse link
G DLA-DOA HLA class II histocompatibility antigen, DO alpha chain-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr12:2,563,673...2,568,328
Ensembl chr12:2,563,673...2,568,328 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 4:41,779,950...42,177,957
Ensembl chr 4:41,780,436...42,235,177 		JBrowse link
G EMSY EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr21:22,149,131...22,289,857
Ensembl chr21:22,149,127...22,289,875 		JBrowse link
G FBRSL1 fibrosin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr26:535,522...613,134
Ensembl chr26:531,248...613,183 		JBrowse link
G HAUS6 HAUS augmin like complex subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr11:38,889,977...38,935,396
Ensembl chr11:38,893,544...38,935,136 		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 chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588 		JBrowse link
G INCENP inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr18:54,361,376...54,384,649
Ensembl chr18:54,361,378...54,384,641 		JBrowse link
G ITGB8 integrin subunit beta 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr14:34,370,957...34,449,091
Ensembl chr14:34,349,232...34,444,235 		JBrowse link
G KDM2A lysine demethylase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr18:50,178,511...50,294,097
Ensembl chr18:50,181,024...50,291,127 		JBrowse link
G KNL1 kinetochore scaffold 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr30:7,753,515...7,825,019
Ensembl chr30:7,753,432...7,821,588 		JBrowse link
G LARP4B La ribonucleoprotein 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:34,026,788...34,122,144
Ensembl chr 2:34,026,534...34,119,443 		JBrowse link
G LOC119865560 U6 spliceosomal RNA ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016
G LOC119871686 U6 spliceosomal RNA ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016
G MAD1L1 mitotic arrest deficient 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 6:14,889,126...15,236,194
Ensembl chr 6:14,882,875...15,236,192 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479 		JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:21,232,260...21,283,687
Ensembl chr 1:21,235,967...21,283,346 		JBrowse link
G MBNL1 muscleblind like splicing regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr23:46,697,755...46,941,300
Ensembl chr23:46,737,790...46,938,233 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122 		JBrowse link
G MOB2 MOB kinase activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr18:45,698,096...45,776,402
Ensembl chr18:45,682,790...45,776,349 		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 chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G MYO9B myosin IXB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr20:45,512,286...45,582,619
Ensembl chr20:45,512,276...45,582,619 		JBrowse link
G OACYL O-acyltransferase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:17,074,103...17,143,844 JBrowse link
G PAX9 paired box 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099 		JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 5:9,054,138...9,363,750
Ensembl chr 5:9,056,134...9,178,159 		JBrowse link
G POU2F2 POU class 2 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:112,165,908...112,252,712
Ensembl chr 1:112,220,511...112,321,672 		JBrowse link
G PPFIBP2 PPFIA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr21:31,165,386...31,335,231
Ensembl chr21:31,165,194...31,334,973 		JBrowse link
G RASSF3 Ras association domain family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr10:7,323,272...7,353,378
Ensembl chr10:7,212,460...7,351,395 		JBrowse link
G RFX7 regulatory factor X7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr30:21,305,458...21,437,901
Ensembl chr30:21,308,282...21,437,935 		JBrowse link
G RNASEL ribonuclease L ISO ClinVar Annotator: match by term: Prostate cancer susceptibility ClinVar PMID:12415269 PMID:16609730 PMID:25741868 NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569 		JBrowse link
G RNF43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313 		JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr26:38,137,662...38,413,666
Ensembl chr26:38,083,371...38,414,033 		JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr18:9,051,920...9,766,342
Ensembl chr18:9,030,745...9,766,277 		JBrowse link
G TCF4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:20,060,788...20,417,367
Ensembl chr 1:20,060,788...20,417,348 		JBrowse link
G TCF7L2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr28:23,966,079...24,162,775
Ensembl chr28:23,966,073...24,163,737 		JBrowse link
G TOR1A torsin family 1 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680 		JBrowse link
G TSHZ1 teashirt zinc finger homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:4,224,875...4,229,755
Ensembl chr 1:4,226,210...4,246,762 		JBrowse link
G TTC28 tetratricopeptide repeat domain 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr26:21,424,249...22,049,579
Ensembl chr26:21,427,961...22,240,624 		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 chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405 		JBrowse link
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631
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 chr20:56,785,960...56,788,815 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CCND2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr26:18,487,700...18,539,678
Ensembl chr26:18,532,479...18,533,576 		JBrowse link
G CTNNB1 catenin beta 1 ISO RGD
MouseDO		 PMID:16488995 RGD:1643593 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G FANCF FA complementation group F disease_progression
susceptibility		 ISO DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:11049141 RGD:2298508 NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859 		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 chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		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 chr10:50,540,706...50,594,336
Ensembl chr10:50,541,960...50,598,036 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380 		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 chr18:13,375,216...13,467,811
Ensembl chr18:13,376,425...13,468,038 		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 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr16:14,671,345...14,675,000
Ensembl chr16:14,671,130...14,674,926 		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 1:27,086,431...27,196,601
Ensembl chr 1:27,087,361...27,196,521 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr15:44,093,491...44,171,177
Ensembl chr15:44,095,497...44,170,098 		JBrowse link
G SMAD5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr11:24,027,603...24,082,673
Ensembl chr11:24,028,126...24,078,169 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859 		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 chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		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 chr26:37,027,165...37,109,842
Ensembl chr26:37,027,275...37,102,888 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		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 chr 9:26,551,953...26,596,330
Ensembl chr 9:26,551,268...26,595,646 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674 		JBrowse link
G ABI3 ABI family member 3 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 ClinVar PMID:38922859 NCBI chr 9:25,374,823...25,385,016
Ensembl chr 9:25,374,525...25,385,003 		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 chr32:7,298,789...7,316,665
Ensembl chr32:7,298,790...7,317,001 		JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		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 chr 9:18,391,829...18,399,808
Ensembl chr 9:18,391,818...18,404,629 		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 chr 9:26,377,711...26,407,414
Ensembl chr 9:26,378,081...26,410,120 		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 chr 9:18,711,050...18,728,627
Ensembl chr 9:18,710,979...18,728,941 		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 chr 9:31,884,028...31,908,142
Ensembl chr 9:31,885,478...31,904,386 		JBrowse link
G AMH anti-Mullerian hormone ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr20:56,785,960...56,788,815 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 chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533 		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 chr 9:31,093,638...31,364,315
Ensembl chr 9:31,055,348...31,386,790 		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 3:31,067,936...31,188,066
Ensembl chr 3:31,028,026...31,186,827 		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 chr 9:26,597,596...26,610,458
Ensembl chr 9:26,599,762...26,605,484 		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 chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395 		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 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		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 chr 9:18,185,580...18,196,622 JBrowse link
G ARL17A ADP ribosylation factor like GTPase 17A ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr 9:9,895,859...9,917,339 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 chr 9:19,832,608...19,834,593
Ensembl chr 9:19,833,192...19,833,797 		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 chr 9:19,217,508...19,229,451
Ensembl chr 9:19,217,721...19,226,242 		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 prematu