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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 Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Cd8a CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:103,095,767...103,098,260 JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:69,614,744...69,622,570 JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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 chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
JBrowse link
G Tff1 trefoil factor 1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:10727981 RGD:2298570 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:uterine cervix RGD PMID:9739406 RGD:2292022 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17354237 RGD:2298527 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
cervical cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO protein:increased expression:serum RGD PMID:11299848 RGD:2325708 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO DNA:polymorphism: :p.D148E (human) RGD PMID:19292061 PMID:18503157 RGD:2315657, RGD:2315662 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
JBrowse link
G Api5 apoptosis inhibitor 5 disease_progression ISO mRNA:increased expression RGD PMID:10780674 RGD:1643340 NCBI chr 3:80,378,100...80,403,267
Ensembl chr 3:80,378,096...80,403,264
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:uterine cervix RGD PMID:17311011 RGD:1643476 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:16504151 RGD:1643527 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
JBrowse link
G Brca1 BRCA1, DNA repair associated disease_progression ISO DNA:hypermethylation:promoter RGD PMID:12773202 RGD:2298941 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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 chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Bsg basigin (Ok blood group) disease_progression ISO RGD PMID:18223224 RGD:2296028 NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
JBrowse link
G Casp3 caspase 3 ISO RGD PMID:18177927 RGD:2298948 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Ccnb1 cyclin B1 ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16614707 RGD:2315938 NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO RGD PMID:9358772 RGD:2293549 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
JBrowse link
G Cdc25a cell division cycle 25A ISO RGD PMID:18299147 RGD:2296067 NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:15289842 RGD:4105450 NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185
JBrowse link
G Cdh13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:17548682 RGD:2293543 NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459
JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO RGD PMID:18299147 RGD:2296067 NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
JBrowse link
G Ebag9 estrogen receptor binding site associated, antigen, 9 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16112176 RGD:2289851 NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression: uterine cervix, cytoplasm RGD PMID:28042953 RGD:126790468 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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 chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISS
ISO
OMIM:603956
ClinVar Annotator: match by term: Cancer of cervix
ClinVar Annotator: match by term: Cervical cancer
MouseDO
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:18177825 RGD:2293825 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:18177825 RGD:2293825 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO protein:increased expression:cervical epithelium (human) RGD PMID:19319956 RGD:10054394 NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
JBrowse link
G Hoxb13 homeo box B13 ISO mRNA:increased expression:uterine cervix RGD PMID:16803519 RGD:2314728 NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO Protein: increased expression RGD PMID:21137014 RGD:6218976 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:9541628 RGD:2317658 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Kdm3a lysine demethylase 3A severity ISO human gene in a mouse model RGD PMID:23492365 RGD:9590219 NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO human gene in a mouse model RGD PMID:22926525 RGD:9588221 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Kmt2e lysine methyltransferase 2E ISO human gene in a mouse model RGD PMID:25172963 RGD:9588553 NCBI chr 4:11,657,811...11,727,373
Ensembl chr 4:11,658,979...11,727,373
JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 treatment ISO RGD PMID:20980434 RGD:7495806 NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:20980434 RGD:7495806 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
JBrowse link
G Mdc1 mediator of DNA damage checkpoint 1 ISO mRNA, protein:increased expression:uterine cervix (human) RGD PMID:21853275 RGD:9589052 NCBI chr20:2,893,693...2,912,394
Ensembl chr20:2,895,505...2,910,240
JBrowse link
G Med4 mediator complex subunit 4 severity ISO mRNA:decreased expression:uterine cervix (human) RGD PMID:19911042 RGD:12880436 NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:uterine cervix RGD PMID:30131089 RGD:19165142 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
JBrowse link
G Mir21 microRNA 21 severity ISO RGD PMID:32256824 RGD:40925949 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mmp1 matrix metallopeptidase 1 disease_progression ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:14550952 RGD:7207024 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO mRNA:increased expression:uterine cervix RGD PMID:17243165 RGD:2306082 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:g.1298A>C (human) RGD PMID:27771518 RGD:38501051 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 chr 2:27,201,713...27,202,126
Ensembl chr 2:27,201,713...27,202,258
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix RGD PMID:14984964 RGD:2314838 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:508567 RGD:2299870 NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
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 1:48,688,651...49,882,520 JBrowse link
G Ptk2 protein tyrosine kinase 2 disease_progression ISO RGD PMID:16638855 RGD:2292556 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
JBrowse link
G Rassf1 Ras association domain family member 1 ISO associated with Papillomavirus Infections;DNA:hypermethylation:promoter RGD PMID:18608185 RGD:2299861 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)
DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)
RGD PMID:25893807 PMID:16425277 RGD:36174015, RGD:36174023 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Smad2 SMAD family member 2 ISO DNA, mRNA:insertion, deletion, decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:uterine cervix RGD PMID:12894231 RGD:2299968 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:27581326 RGD:13441596 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:18248301 PMID:12648582 RGD:6482260, RGD:6482272 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs: : RGD PMID:18248301 PMID:12648582 RGD:6482260, RGD:6482272 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15816637 RGD:2290434 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-308G>A (human) RGD PMID:19823053 RGD:2315116 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO RGD PMID:16271751 RGD:2290493 NCBI chr15:44,839,818...44,867,582 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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO DNA:polymorphism: :p.R194W RGD PMID:18851872 RGD:2302567 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO mRNA:increased expression:uterine cervix RGD PMID:11812077 RGD:2315697 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk11 serine/threonine kinase 11 disease_progression ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
JBrowse link
G Brip1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 8:114,176,256...114,182,155
Ensembl chr 8:114,176,974...114,178,056
JBrowse link
G Cd82 Cd82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma RGD PMID:17306351 RGD:2289084 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
JBrowse link
G Foxp3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Pdpn podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
JBrowse link
G Smad3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr10:103,541,199...103,590,611 JBrowse link
G Tmbim6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr 7:130,512,428...130,543,637
Ensembl chr 7:130,527,316...130,543,633
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
JBrowse link
G Tnfsf4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
cervicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir21 microRNA 21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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 chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
JBrowse link
G Bag1 BAG cochaperone 1 ISO protein:increased expression:uterine cervix RGD PMID:10047462 RGD:2293889 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:12771926 RGD:2315701 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:14751136 RGD:2316013 NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
JBrowse link
G Cd9 CD9 molecule disease_progression ISO RGD PMID:14695144 RGD:2326206 NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO mRNA, protein:increased expression:cervix epithelium (human) RGD PMID:24737201 RGD:42722607 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO DNA:SNPs (human) RGD PMID:19202550 RGD:2315691 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO RGD PMID:10471491 RGD:2289864 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Gstm1 glutathione S-transferase mu 1 onset ISO associated with Papillomavirus Infections;DNA:deletion:cds (human) RGD PMID:10813720 RGD:7495819 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:10813720 RGD:7495819 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:polymorphisms:cds:p.I143V, p.K178R (human) RGD PMID:17234722 RGD:2317690 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:16803521 RGD:2300207 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased tyrosine phosphorylation:cervix RGD PMID:14675348 RGD:2292568 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO DNA:hypermethylation RGD PMID:16434596 RGD:2300022 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs4148876)(human) RGD PMID:17366619 RGD:6482264 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tk1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:11474248 RGD:2317243 NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920
JBrowse link
G Tsg101 tumor susceptibility 101 ISO mRNA:alternative form:uterine cervix
mRNA:alternative forms:uterine cervix:multiple
RGD PMID:10600297 PMID:10505033 RGD:2291851, RGD:2291852 NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554
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 chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
JBrowse link
G Cd274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr13:106,575,586...106,606,325 JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO protein:increased expression:uterine cervix
DNA:hypermethylation
RGD PMID:16406113 PMID:17415114 PMID:17910346 PMID:16778587 RGD:2296058, RGD:2289676, RGD:2289675, RGD:2296054 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO protein:increased expression
protein:increased expression:uterine cervix
RGD PMID:17910346 PMID:17415114 RGD:2289675, RGD:2289676
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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 chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
JBrowse link
G Faslg Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:14675666 PMID:17709267 RGD:2290021, RGD:2290004 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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 chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Phb1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO associated with Papillomavirus Infections RGD PMID:18351579 PMID:10073700 PMID:15458897 RGD:2306230, RGD:2314703, RGD:2306232 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Skp2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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 chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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:2298536, RGD:2291916 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Terc telomerase RNA component disease_progression ISO DNA:amplification:uterine cervix, epithelial cell RGD PMID:15793301 RGD:2291968 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
JBrowse link
G Tlr9 toll-like receptor 9 disease_progression ISO RGD PMID:17440926 RGD:2301099 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Top2a DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
JBrowse link
G Tp63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
G Tp73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700
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 More... NCBI chr10:102,982,059...102,999,509 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 More... NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 More... NCBI chr10:102,982,059...102,999,509 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 chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 More... NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 More... NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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 ClinVar
OMIM
PMID:22850876 NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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 chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Ccna1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157
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 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix
associated with Cervix Neoplasms;protein:increased expression:uterine cervix
RGD PMID:16415792 PMID:16406113 RGD:2296057, RGD:2296058 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO associated with squamous cell carcinoma RGD PMID:31430224 RGD:38599177 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) RGD PMID:25056374 RGD:38500237 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion RGD PMID:16360200 RGD:2293831 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO RGD PMID:30935248 RGD:39938848 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Mir20a microRNA 20a ISO associated with oral squamous cell carcinoma RGD PMID:26781875 RGD:26884343 NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mx1 MX dynamin like GTPase 1 exacerbates ISO protein:increased expression:body wart (human) RGD PMID:28736973 RGD:126777683 NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
JBrowse link
G Pten phosphatase and tensin homolog ISO associated with tonsil cancer;protein:increased expression:tonsil (human)
associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)
RGD PMID:24616007 PMID:28945300 RGD:127285601 RGD:127285613 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO RGD PMID:12918070 PMID:12941545 PMID:19272325 RGD:2314694, RGD:2314693, RGD:2306228 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tlr3 toll-like receptor 3 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr9 toll-like receptor 9 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr12:16,728,477...16,764,261
Ensembl chr12:16,728,524...16,764,097
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 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital OMIM
ClinVar
PMID:31484767 NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human)
DNA:polymorphism: :HLA-DQB1*0602(human)
RGD PMID:15336778 PMID:19861144 RGD:5147657, RGD:36174013 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) RGD PMID:15336778 RGD:5147657 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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 chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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 chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Clu clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Mir21 microRNA 21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
Uterine Cervical Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) RGD PMID:16803516 RGD:36049759 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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:26432044 PMID:17364499 PMID:17890889 PMID:17877643 RGD:2293101, RGD:2293097, RGD:2293098 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Ca9 carbonic anhydrase 9 treatment ISO RGD PMID:17308115 PMID:12687273 RGD:2293193, RGD:2293200 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO DNA, mRNA:hypermethylation, decreased expression:cervix RGD PMID:15589594 PMID:17009984 RGD:2289090, RGD:2289089 NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17450141 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Ccnd1 cyclin D1 onset ISO DNA:polymorphism: :870A>G
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:26432044 PMID:18355450 RGD:2296033 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccne1 cyclin E1 disease_progression ISO protein:increased expression:cervix, epithelial cell RGD PMID:17308103 PMID:16538218 RGD:2289265, RGD:2289268 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
JBrowse link
G Cd44 CD44 molecule (Indian blood group) disease_progression ISO mRNA:splice variants:uterine cervix
protein:decreased expression:uterine cervix
RGD PMID:17464868 PMID:16998464 RGD:2289350, RGD:2289353 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:9358772 RGD:2293549 NCBI chr13:106,575,586...106,606,325 JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO mRNA:decreased expression:uterine cervix RGD PMID:18299147 RGD:2296067 NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium
DNA:amplification
RGD PMID:18301453 PMID:11311493 RGD:2293574, RGD:2299057 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:decreased expression:uterine cervix RGD PMID:18203777 RGD:2289651 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17415114 PMID:16415792 PMID:17369842 RGD:2289676, RGD:2296057, RGD:2289678 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO protein:increased expression:uterine cervix RGD PMID:17415114 PMID:17369842 RGD:2289676, RGD:2289678
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Chek2 checkpoint kinase 2 ISO RGD PMID:18299147 RGD:2296067 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Ctnna1 catenin alpha 1 ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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
ClinVar
CTD
RGD
PMID:9065403 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 More... RGD:2298488 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29477382 NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression (in humans) RGD PMID:17196739 RGD:2301221 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO DNA:SNP: :46359C>T(human)
mRNA:increased expression:uterine cervix:
RGD PMID:23677709 PMID:22330137 RGD:9589114, RGD:9589117 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO protein:increased expression:uterine cervix
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18703609 PMID:20859196 PMID:21329967 PMID:17465227 RGD:2289947 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:26619011 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
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
ClinVar
RGD
PMID:16397024 PMID:22908275 PMID:23220880 PMID:25157968 PMID:26619011 More... RGD:2289947, RGD:2298504 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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
ClinVar
RGD
PMID:26619011 PMID:17465227 RGD:2289947 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased expression:uterine cervix RGD PMID:17465227 RGD:2289947 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20934765 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Fancf FA complementation group F ISO DNA:hypermethylation:promoter RGD PMID:15126331 RGD:2290045 NCBI chr 1:101,449,120...101,452,361
Ensembl chr 1:101,450,389...101,451,923
JBrowse link
G Faslg Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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 chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO cervical squamous cell carcinoma RGD PMID:17306351 RGD:2289084 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO OMIM NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase no_association ISO associated with smoking
cervical squamous cell carcinoma
RGD PMID:16115913 PMID:9462708 PMID:17467893 RGD:2289874, RGD:2289906, RGD:2289871 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA:increased expression:uterine cervix RGD PMID:17306351 RGD:2289084 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G H19 H19, imprinted maternally expressed transcript (non-protein coding) ISO mRNA:decreased expression:uterine cervix RGD PMID:11997082 RGD:2306179 NCBI chr 1:197,730,698...197,733,374 JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO mRNA:increased expression:uterine cervix
ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar
RGD
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... RGD:2314838 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:14675666 RGD:2290021 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27470402 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:11218896 RGD:2301761 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:point mutation:exon (human) RGD PMID:14984964 RGD:2314838 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:26619011 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mgp 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 chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Mlh1 mutL homolog 1 ISO protein:decreased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Msh2 mutS homolog 2 ISO protein:decreased expression:uterine cervix
protein:increased expression:uterine cervix
RGD PMID:17596548 PMID:15807307 RGD:2293504, RGD:2293515 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neoplasm of uterine cervix
ClinVar Annotator: match by term: Uterine cervical neoplasms
CTD
ClinVar
PMID:18058806 PMID:20190810 PMID:24631838 PMID:26018084 PMID:26619011 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26432044 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO ClinVar Annotator: match by term: Uterine cervical neoplasms ClinVar PMID:26619011 PMID:29018201 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Phb1 prohibitin 1 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:184,232,571...184,241,480
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 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21928122 NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
G Pten phosphatase and tensin homolog ISO DNA:amplification
ClinVar Annotator: match by term: Uterine cervical neoplasms
protein:decreased expression:uterine cervix
ClinVar
RGD
PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 More... RGD:2292501, RGD:2298701 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rarb retinoic acid receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961338 NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288
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:2298759, RGD:2298756 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with Papillomavirus Infections RGD PMID:19272325 PMID:12447731 PMID:10755413 RGD:2306228, RGD:2314697, RGD:2314700 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Skp2 S-phase kinase associated protein 2 disease_progression ISO DNA, mRNA:amplification, increased expression:uterine cervix
associated with Papillomavirus Infections
RGD PMID:18559093 PMID:19094580 RGD:2302384, RGD:2315036 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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 More... NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G St14 ST14 transmembrane serine protease matriptase severity ISO mRNA, protein:increased expression:uterine cervix RGD PMID:16021568 RGD:2315093 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:uterine cervix
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25061499 PMID:17311011 RGD:1643476 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Terc telomerase RNA component disease_progression ISO DNA:amplification:uterine cervix RGD PMID:17054308 RGD:2291964 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO protein:increased expression:uterine cervix
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19151717 PMID:17644806 RGD:2291985 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:9462708 RGD:2289906 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA:hypermethylation:promoter RGD PMID:16736496 PMID:17976707 RGD:2290415, RGD:2290412 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
G Top2a DNA topoisomerase II alpha ISO RGD PMID:19347305 RGD:2315124 NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
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 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tp73 tumor protein p73 disease_progression ISO mRNA, protein:splice variant, increased expression:uterine cervix
mRNA:increased expression:uterine cervix
protein:increased expression:uterine cervix
RGD PMID:11870517 PMID:17504382 PMID:16818688 RGD:2290589, RGD:2290582, RGD:2290586 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Tspan1 tetraspanin 1 ISO RGD PMID:12115476 RGD:1331679 NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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 chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO protein:increased expression:uterine cervix
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:26432044 PMID:19723043 PMID:19783962 RGD:2315456, RGD:2315454 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wnt2 Wnt family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr 4:46,328,408...46,374,673
Ensembl chr 4:46,333,998...46,374,402
JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25061499 NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234
JBrowse link
G Xiap X-linked inhibitor of apoptosis severity ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700
JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21792014 NCBI chr 6:127,706,739...127,731,907
Ensembl chr 6:127,707,596...127,732,747
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 DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:193670
ClinVar
CTD
OMIM
RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      reproductive system disease 2756
        female reproductive system disease 1758
          uterine disease 478
            cervix disease 220
              Trichomonas vaginalis trichomoniasis 0
              Uterine Cervical Dysplasia + 2
              Uterine Cervical Neoplasms + 220
              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 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        Female Urogenital Diseases and Pregnancy Complications 2068
          Female Urogenital Diseases 1762
            female reproductive system disease 1758
              uterine disease 478
                cervix disease 220
                  Trichomonas vaginalis trichomoniasis 0
                  Uterine Cervical Dysplasia + 2
                  Uterine Cervical Neoplasms + 220
                  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