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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:cervix disease
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Accession:DOID:2253 term browser browse the term
Definition:Pathological processes of the UTERINE CERVIX.
Synonyms:exact_synonym: Cervix Diseases;   Uterine Cervical Disease;   Uterine Cervical Diseases
 primary_id: MESH:D002577
 alt_id: RDO:0005173
 xref: NCI:C40241
For additional species annotation, visit the Alliance of Genome Resources.


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anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G CD8A CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G IL10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL12B interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
JBrowse link
G IL4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,331,243...9,360,461
Ensembl chr  X:9,314,815...9,359,603
JBrowse link
G TLR8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,381,159...9,399,938 JBrowse link
G TLR9 toll like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
JBrowse link
cervical adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPINK1 serine peptidase inhibitor Kazal type 1 ISO RGD PMID:2258083 RGD:2300391 NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706
JBrowse link
G TFF1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18503157 PMID:19292061 RGD:2315657 RGD:2315662 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G API5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr18:26,326,387...26,355,580
Ensembl chr18:26,327,920...26,355,585
JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
JBrowse link
G BRCA1 BRCA1 DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Cancer of cervix ClinVar PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 PMID:31214711 PMID:32566746 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G BSG basigin disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CCNB1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr 2:54,256,957...54,264,749 JBrowse link
G CD55 CD55 molecule ISO RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226
JBrowse link
G CDC25A cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608
JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744
JBrowse link
G CDH13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr 5:68,491,156...69,586,119
Ensembl chr 5:68,492,022...69,489,255
JBrowse link
G CDK1 cyclin dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197
JBrowse link
G DLA-64 MHC class I DLA-64 susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7 RGD PMID:12543794 RGD:2314696 NCBI chr12:983,573...986,969 JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G FANCA FA complementation group A no_association ISO DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)
DNA:SNP: :rs11649196 (human)
RGD PMID:19012493 PMID:21543111 RGD:11344886 RGD:11344901 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Cervical cancer
ClinVar Annotator: match by term: Cancer of cervix
ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G HOXB13 homeobox B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL1B interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G KDM3A lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr17:38,690,962...38,744,507
Ensembl chr17:38,690,979...38,743,739
JBrowse link
G KMT2A lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr18:15,240,631...15,332,850
Ensembl chr18:15,239,994...15,332,828
JBrowse link
G LOC475399 heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr15:18,239,810...18,299,065 JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026
JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr12:496,353...509,812
Ensembl chr12:496,878...507,442
JBrowse link
G MED4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MIR21 microRNA mir-21 severity ISO RGD PMID:32256824 RGD:40925949 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix RGD PMID:18559093 RGD:2302384 NCBI chr34:10,989,857...10,999,232
Ensembl chr34:10,989,828...11,001,053
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase disease_progression ISO protein:decreased expression:uterine cervix (human) RGD PMID:28631565 RGD:13432557 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
JBrowse link
G RASSF1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
JBrowse link
G SMAD2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 7:43,696,883...43,778,063
Ensembl chr 7:43,700,445...43,769,983
JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:12648582 PMID:18248301 RGD:6482260 RGD:6482272 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Cervical cancer ClinVar PMID:1349102 PMID:1849234 PMID:25741868 PMID:28492532 PMID:30374176 PMID:30816478 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033
JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STK11 serine/threonine kinase 11 disease_progression ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific disease_progression ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G FGF7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G PDPN podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
JBrowse link
G SMAD3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
JBrowse link
G TNFSF4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
cervix carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G BAG1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581
JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018
JBrowse link
G CCND3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891
JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia
DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported
RGD PMID:10471491 PMID:11114733 RGD:2289864 RGD:2289865 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TK1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064
JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple
RGD PMID:10505033 PMID:10600297 RGD:2291851 RGD:2291852 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808
JBrowse link
cervix uteri carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 5:17,865,317...18,190,855
Ensembl chr 5:17,864,453...18,194,694
JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211
JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G CDH1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547
JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO associated with Papillomavirus Infections RGD PMID:10073700 PMID:15458897 PMID:18351579 RGD:2306230 RGD:2306232 RGD:2314703 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL1B interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G LOC100856382 matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673
JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G PDCD1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PHB prohibitin ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr22:31,992,657...31,997,066 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 disease_progression ISO associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus
RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283
JBrowse link
G TLR9 toll like receptor 9 disease_progression ISO protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496
JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO OMIM NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC8 transmembrane channel like 8 ISO OMIM NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB1 calcium and integrin binding 1 ISO OMIM NCBI chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOH ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM
ClinVar
PMID:22850876 NCBI chr 3:72,272,446...72,277,015
Ensembl chr 3:72,276,418...72,276,993
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737
JBrowse link
papillomavirus infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific exacerbates ISO associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) RGD PMID:31882741 RGD:125097510 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CCNA1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr25:4,189,457...4,198,170
Ensembl chr25:4,189,457...4,198,373
JBrowse link
G CD274 CD274 molecule ISO associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO associated with squamous cell carcinoma RGD PMID:31430224 RGD:38599177 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO RGD PMID:12918070 PMID:12941545 PMID:19272325 RGD:2306228 RGD:2314693 RGD:2314694 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:30935248 RGD:39938848 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
JBrowse link
G MIR20A microRNA mir-20a ISO associated with oral squamous cell carcinoma RGD PMID:26781875 RGD:26884343 NCBI chr22:42,478,462...42,478,520
Ensembl chr22:42,478,462...42,478,520
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:23444906 RGD:38501058 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MX1 MX dynamin like GTPase 1 exacerbates ISO protein:increased expression:body wart (human) RGD PMID:28736973 RGD:126777683 NCBI chr31:35,898,206...35,929,802
Ensembl chr31:35,860,590...35,951,350
JBrowse link
G PTEN phosphatase and tensin homolog ISO associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)
associated with tonsil cancer;protein:increased expression:tonsil (human)
RGD PMID:24616007 PMID:28945300 RGD:127285601 RGD:127285613 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G TLR3 toll like receptor 3 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR9 toll like receptor 9 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr  X:123,717,524...123,783,781
Ensembl chr  X:123,717,446...123,783,014
JBrowse link
Recurrent Respiratory Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD274 CD274 molecule ISO protein:increased expression: larynx RGD PMID:22322668 RGD:40822813 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain severity ISO DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) RGD PMID:15336778 RGD:5147657 NCBI chr12:2,151,409...2,164,564 JBrowse link
G NLRP1 NLR family pyrin domain containing 1 ISO OMIM NCBI chr 5:31,264,554...31,299,538
Ensembl chr 5:31,266,621...31,299,304
JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member severity ISO DNA:polymorphism:cds:p.D637G(human) RGD PMID:14976605 RGD:5147844 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G CLU clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G FGF10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
JBrowse link
G MIR21 microRNA mir-21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G NRG1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
Squamous Intraepithelial Lesions of the Cervix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 severity ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
Uterine Cervical Neoplasms 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 AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:uterine cervix
mRNA:increased expression:uterine cervix
CTD
RGD
PMID:17364499 PMID:17877643 PMID:17890889 PMID:26432044 RGD:2293097 RGD:2293098 RGD:2293101 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G CA9 carbonic anhydrase 9 treatment ISO RGD PMID:12687273 PMID:17308115 RGD:2293193 RGD:2293200 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267
JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO DNA, mRNA:hypermethylation, decreased expression:cervix RGD PMID:15589594 PMID:17009984 RGD:2289089 RGD:2289090 NCBI chr 5:17,865,317...18,190,855
Ensembl chr 5:17,864,453...18,194,694
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17450141 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CCND1 cyclin D1 onset ISO DNA:polymorphism: :870A>G
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18355450 PMID:26432044 RGD:2296033 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCNE1 cyclin E1 disease_progression ISO protein:increased expression:cervix, epithelial cell RGD PMID:16538218 PMID:17308103 RGD:2289265 RGD:2289268 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 CD44 CD44 molecule disease_progression ISO mRNA:splice variants:uterine cervix
protein:decreased expression:uterine cervix
RGD PMID:16998464 PMID:17464868 RGD:2289350 RGD:2289353 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
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 CDK2 cyclin dependent kinase 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:18299147 RGD:2296067 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium
DNA:amplification
RGD PMID:11311493 PMID:18301453 RGD:2293574 RGD:2299057 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:decreased expression:uterine cervix RGD PMID:18203777 RGD:2289651 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 CHEK2 checkpoint kinase 2 ISO RGD PMID:18299147 RGD:2296067 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G CLPTM1L CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CTNNA1 catenin alpha 1 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 CTNNB1 catenin beta 1 ISO protein:altered localization:cytoplasm
ClinVar Annotator: match by term: Uterine cervical neoplasms
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9065403 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:15863126 PMID:19234609 PMID:25061499 PMID:25157968 PMID:26619011 PMID:26822237 RGD:2298488 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CYLD CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29477382 NCBI chr 2:64,561,684...64,628,829
Ensembl chr 2:64,562,503...64,628,175
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO protein:increased expression RGD PMID:17196739 RGD:2301221 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility ISO DNA:SNP: :46359C>T(human)
mRNA:increased expression:uterine cervix:
RGD PMID:22330137 PMID:23677709 RGD:9589114 RGD:9589117 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO protein:increased expression:uterine cervix
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17465227 PMID:18703609 PMID:20859196 PMID:21329967 RGD:2289947 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:26619011 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO protein:increased expression:uterine cervix
ClinVar Annotator: match by term: Uterine cervical neoplasms
RGD
ClinVar
PMID:16157365 PMID:16397024 PMID:17465227 PMID:22908275 PMID:23220880 PMID:25157968 PMID:26619011 RGD:2289947 RGD:2298504 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 disease_progression ISO protein:increased expression:uterine cervix
ClinVar Annotator: match by term: Uterine cervical neoplasms
RGD
ClinVar
PMID:17465227 PMID:26619011 RGD:2289947 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression:uterine cervix RGD PMID:17465227 RGD:2289947 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20934765 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G FANCF FA complementation group F ISO DNA:hypermethylation:promoter RGD PMID:15126331 RGD:2290045 NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618
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 FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:25741868 PMID:26619011 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 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 OMIM NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase no_association ISO cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors
mRNA:alternative form::all tumors examined had full-length transcripts despite LOH at 3p14 in 39%, frequency of minor transcripts the same in tumors and normal tissues
associated with smoking; DNA:decreased expression,deletions,gene instability::frequency of genomic alterations significantly higher for smokers than nonsmokers (P<0.02)
RGD PMID:9462708 PMID:16115913 PMID:17467893 RGD:2289871 RGD:2289874 RGD:2289906 NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO mRNA:increased expression:uterine cervix RGD PMID:17306351 RGD:2289084 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
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 HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO associated with Papillomavirus Infections RGD PMID:10755413 PMID:12447731 PMID:19272325 RGD:2306228 RGD:2314697 RGD:2314700 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HOTAIR HOX transcript antisense RNA ISO CTD Direct Evidence: marker/mechanism CTD PMID:29572071 NCBI chr27:1,296,506...1,300,023 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix
ClinVar Annotator: match by term: Uterine cervical neoplasms
RGD
ClinVar
PMID:11150980 PMID:12835555 PMID:14984964 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 RGD:2314838 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum:significantly decreased (p<0.001), levels inversely associated with serum IGF-II levels (p<0.01) RGD PMID:14675666 RGD:2290021 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27470402 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G KDR kinase insert domain receptor disease_progression ISO RGD PMID:11218896 RGD:2301761 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 DNA:point mutation:exon (human) RGD PMID:14984964 RGD:2314838 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC100856382 matrix Gla protein ISO protein:increased expression:tumor, adjacent dysplastic cervical epithelium:7/8 (88%) cervical squamous cell carcinomas 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, altered expression pattern:tumor:intense uniform staining of tumor cells vs heterogeneous staining of normal tissue and premalignant lesions RGD PMID:9358772 RGD:2293549 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:26619011 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MIR543 microRNA mir-543 ISO CTD Direct Evidence: therapeutic CTD PMID:30710498 NCBI chr 8:69,263,406...69,263,463 JBrowse link
G MLH1 mutL homolog 1 ISO protein:decreased 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 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
protein:decreased expression:uterine cervix
RGD PMID:15807307 PMID:17596548 RGD:2293504 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 MTOR mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uterine cervical neoplasms
CTD
ClinVar
PMID:18058806 PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26432044 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:26619011 PMID:29018201 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G PHB prohibitin disease_progression 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 PIAS3 protein inhibitor of activated STAT 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr17:58,650,791...58,660,755
Ensembl chr17:58,571,694...58,660,663
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:30543347 PMID:31568861 PMID:31775759 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21928122 NCBI chr22:31,992,657...31,997,066 JBrowse link
G PTEN phosphatase and tensin homolog ISO DNA:amplification
ClinVar Annotator: match by term: Uterine cervical neoplasms
protein:decreased expression:uterine cervix
RGD
ClinVar
PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 PMID:16773562 PMID:17526801 PMID:17672936 PMID:17727244 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23399955 PMID:23470840 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:29359449 PMID:29706350 RGD:2292501 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 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 RARB retinoic acid receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961338 NCBI chr23:18,207,253...18,931,128
Ensembl chr23:18,207,760...18,482,652
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:altered localization, increased expression:nucleus, uterine cervix
protein:increased expression:uterine cervix
RGD PMID:16850495 PMID:17098279 RGD:2298756 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 disease_progression ISO associated with Papillomavirus Infections
DNA, mRNA:amplification, increased expression:uterine cervix
RGD PMID:18559093 PMID:19094580 RGD:2302384 RGD:2315036 NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:32573726 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase severity ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16021568 RGD:2315093 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
protein:increased tyrosine phosphorylation:uterine cervix
CTD
RGD
PMID:17311011 PMID:25061499 RGD:1643476 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 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:uterine cervix
CTD
RGD
PMID:17644806 PMID:19151717 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:9462708 RGD:2289906 NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA:hypermethylation:promoter RGD PMID:16736496 PMID:17976707 RGD:2290412 RGD:2290415 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19347305 RGD:2315124 NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar PMID:1631151 PMID:8023157 PMID:9020384 PMID:9157982 PMID:9268986 PMID:9572492 PMID:10567903 PMID:10589545 PMID:10914716 PMID:11051239 PMID:11593407 PMID:12124823 PMID:12406399 PMID:12509279 PMID:12826609 PMID:14673037 PMID:15825182 PMID:15925506 PMID:16288208 PMID:16337994 PMID:16818505 PMID:16861262 PMID:17606709 PMID:18818522 PMID:18989156 PMID:19367569 PMID:19681600 PMID:19834951 PMID:20128691 PMID:20407015 PMID:20878954 PMID:21115975 PMID:21343334 PMID:21761402 PMID:22866089 PMID:22999923 PMID:23265383 PMID:23334668 PMID:24590827 PMID:25294809 PMID:25504633 PMID:25587027 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25927356 PMID:26619011 PMID:26781615 PMID:27179933 PMID:27501770 PMID:28135145 PMID:28492532 PMID:28724667 PMID:28873162 PMID:29470806 PMID:29979965 PMID:30224644 PMID:30630526 PMID:30816478 PMID:30840781 PMID:32000721 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TP73 tumor protein p73 disease_progression ISO protein:increased expression:uterine cervix
mRNA:increased expression:uterine cervix
mRNA, protein:splice variant, increased expression:uterine cervix
RGD PMID:11870517 PMID:16818688 PMID:17504382 RGD:2290582 RGD:2290586 RGD:2290589 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G TSPAN1 tetraspanin 1 ISO RGD PMID:12115476 RGD:1331679 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 NCBI chr31:37,263,265...37,276,710 JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:uterine cervix
CTD
RGD
PMID:19723043 PMID:19783962 PMID:26432044 RGD:2315454 RGD:2315456 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G WNT2 Wnt family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr14:56,123,735...56,172,113
Ensembl chr14:56,129,248...56,172,069
JBrowse link
G WNT5A Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr20:34,756,430...34,790,937
Ensembl chr20:34,769,930...34,786,673
JBrowse link
G XIAP X-linked inhibitor of apoptosis severity 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
G YY1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21792014 NCBI chr 8:68,539,511...68,572,796
Ensembl chr 8:68,539,353...68,568,058
JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 ISO OMIM NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,690,170...38,751,360
Ensembl chr19:38,668,527...38,751,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13758
    disease of anatomical entity 13410
      reproductive system disease 2629
        female reproductive system disease 1654
          uterine disease 455
            cervix disease 211
              Trichomonas vaginalis trichomoniasis 0
              Uterine Cervical Dysplasia + 1
              Uterine Cervical Neoplasms + 211
              cervical incompetence 0
              cervical polyp 0
              cervicitis + 1
              cervix endometriosis 0
              cervix erosion 0
              hypertrophic elongation of cervix 0
              uterine cervix leukoplakia 0
Path 2
Term Annotations click to browse term
  disease 13758
    disease of anatomical entity 13410
      Urogenital Diseases 3831
        Female Urogenital Diseases and Pregnancy Complications 1949
          Female Urogenital Diseases 1658
            female reproductive system disease 1654
              uterine disease 455
                cervix disease 211
                  Trichomonas vaginalis trichomoniasis 0
                  Uterine Cervical Dysplasia + 1
                  Uterine Cervical Neoplasms + 211
                  cervical incompetence 0
                  cervical polyp 0
                  cervicitis + 1
                  cervix endometriosis 0
                  cervix erosion 0
                  hypertrophic elongation of cervix 0
                  uterine cervix leukoplakia 0
paths to the root