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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 organ cancer
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Accession:DOID:193 term browser browse the term
Definition:An organ system cancer that is manifested in the reproductive organs. (DO)
Synonyms:exact_synonym: cancer of reproductive system;   malignant reproductive system neoplasm;   reproductive tumor
 xref: NCI:C3674
For additional species annotation, visit the Alliance of Genome Resources.



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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 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: Cancer of cervix 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 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: Cervical cancer
ClinVar Annotator: match by term: Cancer of cervix
ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 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 MAP2K3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026
JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr12:496,353...509,812
Ensembl chr12:496,878...507,442
JBrowse link
G MED4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:32256824 RGD:40925949 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase disease_progression ISO protein:decreased expression:uterine cervix (human) RGD PMID:28631565 RGD:13432557 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
JBrowse link
G RASSF1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
JBrowse link
G SMAD2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:25741868 PMID:28492532 PMID:30374176 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033
JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STK11 serine/threonine kinase 11 disease_progression ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific disease_progression ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G FGF7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G PDPN podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
JBrowse link
G SMAD3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
JBrowse link
G TNFSF4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018
JBrowse link
G CCND3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891
JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia
DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported
RGD PMID:10471491 PMID:11114733 RGD:2289864 RGD:2289865 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TK1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064
JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple
RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808
JBrowse link
cervix uteri carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 5:17,865,317...18,190,855
Ensembl chr 5:17,864,453...18,194,694
JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211
JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G CDH1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547
JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO associated with Papillomavirus Infections RGD PMID:10073700 PMID:15458897 PMID:18351579 RGD:2306230 RGD:2306232 RGD:2314703 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL1B interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G LOC100856382 matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673
JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G PDCD1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PHB prohibitin ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr22:31,992,657...31,997,066 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 disease_progression ISO associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus
RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283
JBrowse link
G TLR9 toll like receptor 9 disease_progression ISO protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496
JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582
JBrowse link
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
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 DNA:transversion:CDS:2467G>C, amino acid D816H
ClinVar Annotator: match by term: Dysgerminoma
RGD
ClinVar
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... RGD:2292181 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
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 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 CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:deletion (rat) RGD PMID:18558284 RGD:2316081 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:17023034 RGD:4892642 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
JBrowse link
G COMT catechol-O-methyltransferase susceptibility
no_association
ISO DNA:polymorphism: :p.V158M
DNA:hypermethylation:promoter
RGD PMID:12810635 PMID:15285606 PMID:17442187 RGD:2289714 RGD:2289721 RGD:2289723 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) RGD PMID:18497059 RGD:2301045 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA) RGD PMID:18318428 RGD:2301040 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) RGD PMID:18497059 RGD:2301045 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates
ameliorates
ISO protein:decreased expression:endometrium (human)
human EFEMP2 knockdown cell line in a mouse model
RGD PMID:28177909 RGD:42722012 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
JBrowse link
G EGF epidermal growth factor severity ISO DNA:snps:5'utr:multiple (human) RGD PMID:19319135 RGD:13673915 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
JBrowse link
G FGF1 fibroblast growth factor 1 disease_progression ISO mRNA:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619
JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO mRNA, protein:increased expression:myometrium RGD PMID:8685603 RGD:2298516 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G GHRH growth hormone releasing hormone ISO mRNA:increased expression:tumor:expression in 17/22 specimens RGD PMID:10022420 PMID:15784701 RGD:2289974 RGD:2301423 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712
JBrowse link
G HOXB13 homeobox B13 ISO RGD PMID:15756448 RGD:2314730 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:decreased expression:endometrium (human) RGD PMID:19424634 RGD:5688747 NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9119882 RGD:2317659 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial cancer ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC482182 sulfotransferase 1E1 ISO DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT) RGD PMID:18318428 RGD:2301040 NCBI chr13:59,323,430...59,343,745 JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism: :252A>G, 804C>A (human) RGD PMID:17045328 RGD:2313259 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MCPH1 microcephalin 1 ISO DNA:deletions:exons:multiple (human) RGD PMID:20638839 RGD:9589018 NCBI chr16:58,306,761...58,529,090
Ensembl chr16:58,295,280...58,529,433
JBrowse link
G MIR21 microRNA mir-21 ISO miRNA:increased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:8566964 PMID:8574961 PMID:8592341 PMID:9697702 PMID:9806477 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 OMIM NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
JBrowse link
G MMP7 matrix metallopeptidase 7 disease_progression ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:deletions:intron:IVS4_delT (human) RGD PMID:15048091 RGD:2317737 NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
JBrowse link
G MSH3 mutS homolog 3 ISO OMIM NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521
JBrowse link
G MSH6 mutS homolog 6 ISO OMIM NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: malignant endometrial neoplasm ClinVar PMID:11818965 PMID:12606733 PMID:15931596 PMID:15987719 PMID:16492921 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 PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Endometrial cancer, somatic ClinVar PMID:10480359 PMID:15256438 PMID:16472587 PMID:22703879 PMID:24033266 More... NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Endometrial cancer
ClinVar Annotator: match by term: Endometrial cancer, somatic
ClinVar PMID:9536098 PMID:10866302 PMID:10920277 PMID:11504908 PMID:16014636 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:decreased expression:endometrium RGD PMID:33408517 RGD:126775148 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G SHBG sex hormone binding globulin ISO DNA:polymorphism:exon:p.D327N (human) RGD PMID:17315164 RGD:1625245 NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624
JBrowse link
G SMAD2 SMAD family member 2 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased expression:endometrium RGD PMID:12883738 RGD:2299970 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G SMAD7 SMAD family member 7 disease_progression ISO mRNA:increased expression:endometrium RGD PMID:15661223 RGD:2299963 NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749
JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO DNA:hypermethylated RGD PMID:15159323 RGD:2298926 NCBI chr15:33,761,434...33,788,973
Ensembl chr15:33,785,545...33,877,869
JBrowse link
G SPAG9 sperm associated antigen 9 ISO protein:increased expression:serum: RGD PMID:24460345 RGD:30296659 NCBI chr 9:26,820,381...26,966,315
Ensembl chr 9:26,820,002...26,966,300
JBrowse link
G STK11 serine/threonine kinase 11 ISO RGD PMID:18245476 RGD:2291944 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO RGD PMID:16985250 RGD:1581436 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489
JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:endometrium RGD PMID:10835496 RGD:2298569 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO mRNA:decreased expression:endometrium RGD PMID:15273280 RGD:2290435 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:8920779 RGD:5131439 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
G WT1 WT1 transcription factor disease_progression ISO RGD PMID:19443388 RGD:2315542 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link
endometrial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648
JBrowse link
G APC APC regulator of WNT signaling pathway onset ISO DNA:hypermethylation:promoter: (human)
ClinVar Annotator: match by term: Endometrial carcinoma
RGD
ClinVar
PMID:19900189 PMID:21363919 PMID:25741868 PMID:28492532 RGD:13524625 RGD:13525011 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12702580 PMID:17656264 PMID:22290698 PMID:28492532 NCBI chr 8:47,798,946...47,819,364
Ensembl chr 8:47,801,895...47,819,318
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:12810666 PMID:19781682 PMID:21787400 PMID:23555315 PMID:24728327 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 BRAF B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Endometrial carcinoma
RGD
ClinVar
PMID:16144912 PMID:28492532 RGD:13432166 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7581445 PMID:10667592 PMID:10667595 PMID:12566964 PMID:12955716 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:20104584 PMID:22476429 PMID:22703879 PMID:24448499 PMID:24916970 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:25741868 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:8075649 PMID:11598162 PMID:12588804 PMID:14500541 PMID:20233471 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:25186627 PMID:25741868 PMID:26094658 PMID:26467025 PMID:28492532 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,743,346...38,752,427
Ensembl chr 6:38,743,355...38,752,403
JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,729,729...38,738,357
Ensembl chr 6:38,730,219...38,738,219
JBrowse link
G 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:9462761 PMID:9719378 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:12460918 PMID:15696205 PMID:16361624 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC119881520 phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar
G MAPK1 mitogen-activated protein kinase 1 severity ISO protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)
RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 severity ISO protein:increased phosphorylation:endometrium (human)
protein:increased expression:endometrium (human)
RGD PMID:22459351 PMID:29081408 RGD:13441552 RGD:13702082 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G MIR152 microRNA mir-152 ISO DNA:hypermethylation RGD PMID:21327300 RGD:21066329 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8566964 PMID:8574961 PMID:8592341 PMID:9526167 PMID:9697702 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 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,759,713...38,765,556
Ensembl chr 6:38,762,103...38,765,488
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO RGD PMID:10502722 RGD:2306086 NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:1586275 PMID:7585065 PMID:8640829 PMID:9222765 PMID:9718327 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 RGD
ClinVar
PMID:8782829 PMID:27476653 PMID:28492532 RGD:1600456 NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:8063241 PMID:9536098 PMID:9774676 PMID:10471527 PMID:10508506 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:16140997 PMID:16338133 PMID:16492921 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 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:25529843 PMID:25741868 PMID:26467025 More... NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:27217144 PMID:28492532 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
JBrowse link
G PRKCA protein kinase C alpha ISO RGD PMID:11371124 RGD:2292462 NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:7728760 PMID:8980400 PMID:9326929 PMID:9536098 PMID:9740666 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:25741868 PMID:28492532 NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405
JBrowse link
G RASSF1 Ras association domain family member 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, RGD PMID:18469797 RGD:2299863 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,719,713...38,729,437
Ensembl chr 6:38,719,792...38,728,773
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:promoter:hypermethylated RGD PMID:18572225 RGD:2302555
G SFN stratifin ISO RGD PMID:16271083 RGD:2299931 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537
JBrowse link
G SMAD4 SMAD family member 4 severity ISO DNA:substitutions:promoter
mRNA:decreased expression:endometrium
RGD PMID:10331746 PMID:15385128 RGD:2299966 RGD:2300009 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA, mRNA, protein:hypermethylation, altered expression RGD PMID:17487382 RGD:2300020 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024
JBrowse link
G TFF1 trefoil factor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 disease_progression ISO protein:increased expression:endometrium RGD PMID:12487935 RGD:2298523 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 disease_progression ISO mRNA:decreased expression:endometrium RGD PMID:17009991 RGD:2290360 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO protein:increased expression:endometrium RGD PMID:12798711 RGD:2290420 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
JBrowse link
G TP53 tumor protein p53 severity ISO DNA:mutations: :
ClinVar Annotator: match by term: Endometrial carcinoma
protein:increased expression:epithelial cell, endometrium
RGD
ClinVar
PMID:18431720 PMID:25741868 PMID:26353976 RGD:11075084 RGD:2298525 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Endometrial carcinoma ClinVar NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
JBrowse link
G WNT2 Wnt family member 2 ISO mRNA:decreased expression:endometrium RGD PMID:9099960 RGD:2291875 NCBI chr14:56,123,735...56,172,113
Ensembl chr14:56,129,248...56,172,069
JBrowse link
G WNT4 Wnt family member 4 ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111
JBrowse link
G WNT5A Wnt family member 5A ISO mRNA:decreased expression:tumor:vs normal endometrium RGD PMID:9099960 RGD:2291875 NCBI chr20:34,756,430...34,790,937
Ensembl chr20:34,769,930...34,786,673
JBrowse link
endometrial 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: Endometrial 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
endometrial stromal sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:tumor:increased in 6/8 (75%) of tumors RGD PMID:17367465 RGD:2292170 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
Endometrioid Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G APC APC regulator of WNT signaling pathway ISO DNA:hypermethylation: (human) RGD PMID:18570730 RGD:13432144 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G AREG amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738
JBrowse link
G ATP7B ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267
JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
JBrowse link
G CDH1 cadherin 1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDK2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G DAXX death domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:decreased expression:endometrium
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
RGD
ClinVar
PMID:16962163 PMID:22885469 RGD:2289950 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENO2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G ESR1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO DNA:mutations:exons,intron, splice site:varied mutations in different patients, mutations are somatic but identical germline mutations are associated with craniosynostosis and skeletal dysplasia syndromes
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
RGD
ClinVar
PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 More... RGD:2289862 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G INHA inhibin subunit alpha ISO protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue RGD PMID:17143484 RGD:2290368 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391
JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794
JBrowse link
G KDR kinase insert domain receptor severity ISO protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) RGD PMID:16557278 RGD:2291929 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183
JBrowse link
G LOC611363 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 6:39,827,985...39,834,945 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G NKX2-1 NK2 homeobox 1 ISO DNA:hypermethylation RGD PMID:17504987 RGD:2290483
G PDGFRA platelet derived growth factor receptor alpha ISO protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:21984976 NCBI chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558
JBrowse link
G PTEN phosphatase and tensin homolog ISO DNA:loss of heterozygosity, mutations:multiple (human)
DNA:mutations: :multiple
RGD PMID:11156411 PMID:17418409 RGD:12802357 RGD:2289817 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO associated with Ovarian Neoplasms;protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859
JBrowse link
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 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 CTD Direct Evidence: marker/mechanism CTD PMID:29892016 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 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 CTD Direct Evidence: marker/mechanism CTD PMID:14961571 PMID:16189707 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 CTD Direct Evidence: marker/mechanism CTD PMID:12533788 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prostate cancer susceptibility
CTD
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 LOC610160 O-acyltransferase like protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:17,074,103...17,143,844 JBrowse link
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 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 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 CTD Direct Evidence: marker/mechanism CTD 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
G UHRF1BP1 UHRF1 binding protein 1 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
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:33832919 NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405
JBrowse link
granulosa cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMH anti-Mullerian hormone disease_progression ISO RGD PMID:19359032 RGD:2315639 NCBI 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 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 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 and 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 and 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 ABCG2 ATP binding cassette subfamily G member 2 ISO ClinVar Annotator: match by term: Hereditary breast and 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 ABRAXAS1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Hereditary breast and 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: Breast-ovarian cancer, familial 2 ClinVar PMID:25741868 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892
JBrowse link
G ARL4D ADP ribosylation factor like GTPase 4D ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,832,608...19,834,593
Ensembl chr 9:19,833,192...19,833,797
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar PMID:3338800 PMID:8808599 PMID:9043869 PMID:9443866 PMID:9463314 More... NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar PMID:12832489 PMID:15855157 PMID:16199547 PMID:17550235 PMID:17848578 More... NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867
JBrowse link
G BCAR1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 5:75,463,906...75,499,557
Ensembl chr 5:75,463,926...75,512,476
JBrowse link
G BCL2L1 BCL2 like 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr17:25,618,262...25,847,920
Ensembl chr17:25,617,892...25,847,202
JBrowse link
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4
ClinVar PMID:7585968 PMID:17407155 PMID:23129629 PMID:23292937 PMID:24728327 More... NCBI chr 3:53,408,120...53,506,728
Ensembl chr 3:53,408,217...53,473,146
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO OMIM 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 OMIM NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
ClinVar PMID:16116423 PMID:16116424 PMID:17033622 PMID:18483852 PMID:18628483 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G C1H9orf3 aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Hereditary breast and 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 C5H11orf65 chromosome 5 C11orf65 homolog ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar PMID:3338800 PMID:8808599 PMID:9043869 PMID:9443866 PMID:9463314 More... NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
JBrowse link
G CCNG1 cyclin G1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211
JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar PMID:12216071 PMID:12944922 PMID:14500541 PMID:16112667 PMID:16924464 More... NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDK20 cyclin dependent kinase 20 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:97,623,126...97,662,668
Ensembl chr 1:97,622,998...97,662,662
JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
JBrowse link
G CSMD3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr13:12,401,118...13,570,464
Ensembl chr13:12,401,565...13,569,798
JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G CTNNA2 catenin alpha 2 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr17:43,472,346...44,504,881
Ensembl chr17:43,472,923...44,557,766
JBrowse link
G DHX8 DEAH-box helicase 8 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,734,356...19,766,212
Ensembl chr 9:19,729,816...19,766,555
JBrowse link
G DMBT1 deleted in malignant brain tumors 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr28:32,198,250...32,286,517
Ensembl chr28:32,219,448...32,286,532
JBrowse link
G DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868
G EED embryonic ectoderm development ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr21:13,260,062...13,289,511
Ensembl chr21:13,260,002...13,289,337
JBrowse link
G EFCAB10 EF-hand calcium binding domain 10 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25050558 PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr18:14,833,401...14,844,081
Ensembl chr18:14,833,472...14,845,956
JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G EPCAM epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar PMID:25741868 PMID:32566746 NCBI chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr25:29,785,641...29,812,536
Ensembl chr25:29,787,132...29,811,112
JBrowse link
G ETV4 ETS variant transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,715,259...19,731,085
Ensembl chr 9:19,715,535...19,730,456
JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 7:33,237,124...33,268,835
Ensembl chr 7:33,237,593...33,268,254
JBrowse link
G EYA2 EYA transcriptional coactivator and phosphatase 2 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr24:34,126,086...34,308,412
Ensembl chr24:34,082,197...34,308,423
JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,013,744...38,053,096
Ensembl chr 3:38,013,739...38,052,202
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405
JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902
JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 5:42,176,093...42,195,718
Ensembl chr 5:42,176,291...42,195,711
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
G FNDC8 fibronectin type III domain containing 8 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4
ClinVar NCBI chr 9:38,232,116...38,240,791
Ensembl chr 9:38,232,117...38,240,791
JBrowse link
G FOXD1 forkhead box D1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868
G GPHN gephyrin ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 8:40,585,625...41,204,007
Ensembl chr 8:40,585,883...41,203,245
JBrowse link
G HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:59,388,492...59,400,028
Ensembl chr 2:59,388,494...59,400,003
JBrowse link
G ID3 inhibitor of DNA binding 3, HLH protein ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:75,880,659...75,881,786
Ensembl chr 2:75,880,657...75,882,010
JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793
JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G KRT19 keratin 19 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:21,240,778...21,245,039 JBrowse link
G LASP1 LIM and SH3 protein 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:23,345,226...23,397,058
Ensembl chr 9:23,347,881...23,396,945
JBrowse link
G LCP1 lymphocyte cytosolic protein 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr22:4,955,453...5,059,654
Ensembl chr22:4,992,347...5,059,636
JBrowse link
G LEPROTL1 leptin receptor overlapping transcript like 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr16:34,176,810...34,195,552
Ensembl chr16:34,154,253...34,189,127
JBrowse link
G LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127
JBrowse link
G LRP12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr13:5,670,932...5,754,076
Ensembl chr13:5,674,649...5,744,740
JBrowse link
G MAFG MAF bZIP transcription factor G ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:368,102...373,825
Ensembl chr 9:372,216...372,797
JBrowse link
G MED28 mediator complex subunit 28 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 3:62,887,095...62,895,588
Ensembl chr 3:62,890,515...62,895,562
JBrowse link
G MELK maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr11:52,970,699...53,067,169
Ensembl chr11:52,977,260...53,067,172
JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
JBrowse link
G MLH1 mutL homolog 1 ISO 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: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar PMID:1756143 PMID:7757073 PMID:8581513 PMID:8797773 PMID:8872463 More... NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MME membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar PMID:9845372 PMID:11196167 PMID:23912341 PMID:24093751 PMID:24894818 More... NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar PMID:9559627 PMID:10024676 PMID:10080150 PMID:10469597 PMID:10777691 More... NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar PMID:10675480 PMID:18269114 PMID:23047549 PMID:23621914 PMID:24033266 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
JBrowse link
G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 3:37,958,771...38,012,893
Ensembl chr 3:37,960,004...38,011,344
JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539
JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061
JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar PMID:9536098 PMID:9590180 PMID:9620777 PMID:10398434 PMID:10852373 More... NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563
JBrowse link
G NBR1 NBR1 autophagy cargo receptor ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,926,885...19,959,552
Ensembl chr 9:19,915,973...19,958,789
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr25:118,558...130,901 JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 8:26,364,664...26,411,475
Ensembl chr 8:26,364,838...26,411,424
JBrowse link
G NF1 neurofibromin 1 ISO 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: Breast-ovarian cancer, familial 2
ClinVar PMID:9691142 PMID:10336779 PMID:11857752 PMID:12807981 PMID:15146469 More... NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr28:14,902,212...14,910,437
Ensembl chr28:14,902,706...14,910,395
JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G PAK4 p21 (RAC1) activated kinase 4 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:114,009,573...114,052,100
Ensembl chr 1:114,009,711...114,018,191
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4
ClinVar PMID:16199547 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17420451 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
JBrowse link
G PAX7 paired box 7 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003
JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 ClinVar PMID:25741868 NCBI chr 5:16,367,737...16,389,991
Ensembl chr 5:16,367,116...16,390,006
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714
JBrowse link
G PLK2 polo like kinase 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 ClinVar PMID:25741868 NCBI chr 2:45,359,865...45,365,496
Ensembl chr 2:45,360,374...45,367,441
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:24728327 PMID:25741868 NCBI chr37:502,752...609,640
Ensembl chr37:502,747...790,904
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar PMID:14756672 PMID:15521988 PMID:22703879 PMID:24728327 PMID:25741868 More... NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G POLQ DNA polymerase theta ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr33:24,713,174...24,837,113
Ensembl chr33:24,714,086...24,837,402
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4
ClinVar PMID:10076877 PMID:10400993 PMID:12938083 PMID:14566704 PMID:17942903 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTPRK protein tyrosine phosphatase receptor type K ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:66,596,659...67,022,631
Ensembl chr 1:66,597,563...67,124,540
JBrowse link
G PUM1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:69,907,655...70,044,055
Ensembl chr 2:69,907,735...70,042,680
JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 PMID:32566746 NCBI chr27:26,234,503...26,257,328
Ensembl chr27:26,234,777...26,257,528
JBrowse link
G RAD50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1
ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2
ClinVar PMID:16385572 PMID:18281469 PMID:19409520 PMID:23555315 PMID:24240112 More... NCBI chr11:20,836,863...20,928,930
Ensembl chr11:20,836,879...20,928,819
JBrowse link
G RAD51B RAD51 paralog B ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar PMID:25741868 PMID:26898890 PMID:32566746 NCBI chr 8:41,779,435...42,357,362
Ensembl chr 8:41,778,714...42,357,298