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: cervical cancer
Accession: DOID:4362
browse the term
Definition: A female reproductive organ cancer that is located_in the cervix. (DO)
Synonyms: exact_synonym: cancer of cervix; cancer of the cervix; cancer of the uterine cervix; cervix cancer; cervix cancers; cervix uteri cancer; uterine cervical cancer; uterine cervical cancers
xref: ICD10CM:C53 ; ICD9CM:180 ; MONDO:0002974 ; NCI:C2940 ; NCI:C9311
For additional species annotation, visit the
Alliance of Genome Resources .
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ANG
angiogenin
IEP
protein:increased expression:serum
RGD
PMID:11299848
RGD:2325708
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
IEP IAGP
DNA:polymorphism: :p.D148E (human)
RGD
PMID:19292061 PMID:18503157
RGD:2315657 , RGD:2315662
NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
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API5
apoptosis inhibitor 5
disease_progression
IEP
mRNA:increased expression
RGD
PMID:10780674
RGD:1643340
NCBI chr11:43,311,996...43,344,529
Ensembl chr11:43,311,963...43,344,529
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BCL2L1
BCL2 like 1
IEP
protein:increased expression:uterine cervix
RGD
PMID:17311011
RGD:1643476
NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
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BIRC2
baculoviral IAP repeat containing 2
IEP
mRNA:decreased expression:uterine cervix
RGD
PMID:16504151
RGD:1643527
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BRCA1
BRCA1 DNA repair associated
disease_progression
IDA
DNA:hypermethylation:promoter
RGD
PMID:12773202
RGD:2298941
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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BRIP1
BRCA1 interacting helicase 1
IAGP
ClinVar Annotator: match by term: Cervical cancer
ClinVar
PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 PMID:31214711 PMID:32566746 More...
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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BSG
basigin (Ok blood group)
disease_progression
IEP
RGD
PMID:18223224
RGD:2296028
NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494
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CASP3
caspase 3
IEP
RGD
PMID:18177927
RGD:2298948
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CCNB1
cyclin B1
IEP
mRNA, protein:increased expression:uterine cervix
RGD
PMID:16614707
RGD:2315938
NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245
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CD55
CD55 molecule (Cromer blood group)
IEP
RGD
PMID:9358772
RGD:2293549
NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
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CDC25A
cell division cycle 25A
IDA
RGD
PMID:18299147
RGD:2296067
NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417
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CDC25C
cell division cycle 25C
IEP
RGD
PMID:15289842
RGD:4105450
NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
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CDH13
cadherin 13
IDA
DNA:hypermethylation:promoter
RGD
PMID:17548682
RGD:2293543
NCBI chr16:82,626,969...83,800,640
Ensembl chr16:82,626,965...83,800,640
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CDK1
cyclin dependent kinase 1
IDA
RGD
PMID:18299147
RGD:2296067
NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852
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EBAG9
estrogen receptor binding site associated antigen 9
disease_progression
IEP
protein:increased expression:uterine cervix
RGD
PMID:16112176
RGD:2289851
NCBI chr 8:109,539,702...109,565,996
Ensembl chr 8:109,539,711...109,570,072
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ERBB4
erb-b2 receptor tyrosine kinase 4
IEP
protein:increased expression: uterine cervix, cytoplasm
RGD
PMID:28042953
RGD:126790468
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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FANCA
FA complementation group A
no_association
IAGP
DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human) DNA:SNP: :rs11649196 (human)
RGD
PMID:19012493 PMID:21543111
RGD:11344886 , RGD:11344901
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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FGFR3
fibroblast growth factor receptor 3
IAGP
ClinVar Annotator: match by term: Cervical cancer ClinVar Annotator: match by term: Cancer of cervix ClinVar Annotator: match by term: Cervix cancer
ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 More...
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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GSTM1
glutathione S-transferase mu 1
susceptibility
IAGP
RGD
PMID:18177825
RGD:2293825
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTT1
glutathione S-transferase theta 1
susceptibility
IAGP
RGD
PMID:18177825
RGD:2293825
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HLA-B
major histocompatibility complex, class I, B
susceptibility
IAGP
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-B7
RGD
PMID:12543794
RGD:2314696
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DPB1
major histocompatibility complex, class II, DP beta 1
susceptibility
IAGP
DNA:polymorphism: :HLA-DPB1*1301 (human)
RGD
PMID:17349874
RGD:150429811
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HNRNPC
heterogeneous nuclear ribonucleoprotein C
IEP
protein:increased expression:cervical epithelium (human)
RGD
PMID:19319956
RGD:10054394
NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
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HOXB13
homeobox B13
IEP
mRNA:increased expression:uterine cervix
RGD
PMID:16803519
RGD:2314728
NCBI chr17:48,724,763...48,728,750
Ensembl chr17:48,724,763...48,728,750
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HSPA8
heat shock protein family A (Hsp70) member 8
IEP
Protein: increased expression
RGD
PMID:21137014
RGD:6218976
NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230
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IL10
interleukin 10
disease_progression
IEP
protein:increased expression:serum
RGD
PMID:9541628
RGD:2317658
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL1B
interleukin 1 beta
susceptibility
IAGP
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)
RGD
PMID:25893807
RGD:36174015
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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KDM3A
lysine demethylase 3A
severity
IMP
human gene in a mouse model
RGD
PMID:23492365
RGD:9590219
NCBI chr 2:86,437,044...86,492,716
Ensembl chr 2:86,440,647...86,492,716
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KMT2A
lysine methyltransferase 2A
IMP
human gene in a mouse model
RGD
PMID:22926525
RGD:9588221
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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KMT2E
lysine methyltransferase 2E (inactive)
IMP
human gene in a mouse model
RGD
PMID:25172963
RGD:9588553
NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019
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LINC00885
long intergenic non-protein coding RNA 885
IEP IMP
mRNA:increased expression:cervical region (human) human cells in mouse model
RGD
PMID:33603486 PMID:33603486
RGD:152999025 , RGD:152999025
NCBI chr 3:196,142,636...196,160,890
Ensembl chr 3:196,142,516...196,160,893
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MACC1
MET transcriptional regulator MACC1
IEP
mRNA:increased expression:cervical region (human)
RGD
PMID:33603486
RGD:152999025
NCBI chr 7:20,134,655...20,217,384
Ensembl chr 7:20,134,655...20,217,404
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MAP2K3
mitogen-activated protein kinase kinase 3
treatment
IMP
RGD
PMID:20980434
RGD:7495806
NCBI chr17:21,284,711...21,315,240
Ensembl chr17:21,284,672...21,315,232
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MAP2K6
mitogen-activated protein kinase kinase 6
IMP
RGD
PMID:20980434
RGD:7495806
NCBI chr17:69,414,697...69,553,865
Ensembl chr17:69,414,697...69,553,865
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MDC1
mediator of DNA damage checkpoint 1
IEP
mRNA, protein:increased expression:uterine cervix (human)
RGD
PMID:21853275
RGD:9589052
NCBI chr 6:30,699,807...30,717,281
Ensembl chr 6:30,699,807...30,717,447
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MED4
mediator complex subunit 4
severity
IEP
mRNA:decreased expression:uterine cervix (human)
RGD
PMID:19911042
RGD:12880436
NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131
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MIR152
microRNA 152
IEP
miRNA:decreased expression:uterine cervix
RGD
PMID:30131089
RGD:19165142
NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
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MIR21
microRNA 21
severity
IEP
RGD
PMID:32256824
RGD:40925949
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR432
microRNA 432
IEP
mRNA:decreased expression:cervical region (human)
RGD
PMID:33603486
RGD:152999025
NCBI chr14:100,884,483...100,884,576
Ensembl chr14:100,884,483...100,884,576
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MMP1
matrix metallopeptidase 1
disease_progression
IAGP
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:14550952
RGD:7207024
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP13
matrix metallopeptidase 13
IEP
mRNA:increased expression:uterine cervix
RGD
PMID:17243165
RGD:2306082
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
IAGP
DNA:missense mutation:cds:g.1298A>C (human)
RGD
PMID:27771518
RGD:38501051
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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NDUFS6
NADH:ubiquinone oxidoreductase subunit S6
disease_progression
IAGP
DNA, mRNA:amplification, increased expression:uterine cervix
RGD
PMID:18559093
RGD:2302384
NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
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NRAS
NRAS proto-oncogene, GTPase
IEP
mRNA:increased expression:uterine cervix
RGD
PMID:14984964
RGD:2314838
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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PGM3
phosphoglucomutase 3
IEP
RGD
PMID:508567
RGD:2299870
NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
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PRKN
parkin RBR E3 ubiquitin protein ligase
disease_progression
IEP
protein:decreased expression:uterine cervix (human)
RGD
PMID:28631565
RGD:13432557
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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PTK2
protein tyrosine kinase 2
disease_progression
IEP
RGD
PMID:16638855
RGD:2292556
NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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PTPN11
protein tyrosine phosphatase non-receptor type 11
IEP
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PTPN6
protein tyrosine phosphatase non-receptor type 6
IEP
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
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RASSF1
Ras association domain family member 1
IDA
associated with Papillomavirus Infections;DNA:hypermethylation:promoter
RGD
PMID:18608185
RGD:2299861
NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
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SF3B4
splicing factor 3b subunit 4
severity
IEP IMP
mRNA, protein:increased expression:cervix (human) human cells in mouse model
RGD
PMID:35853859 PMID:35853859
RGD:155882439 , RGD:155882439
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
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SMAD2
SMAD family member 2
IAGP
DNA, mRNA:insertion, deletion, decreased expression:uterine cervix
RGD
PMID:12894231
RGD:2299968
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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SMAD4
SMAD family member 4
IEP
mRNA:decreased expression:uterine cervix
RGD
PMID:12894231
RGD:2299968
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
IEP
mRNA:increased expression:cervix epithelium (human)
RGD
PMID:27581326
RGD:13441596
NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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SPAG5
sperm associated antigen 5
severity
IEP
mRNA, protein:increased expression:cervix (human)
RGD
PMID:35853859
RGD:155882439
NCBI chr17:28,577,574...28,599,025
Ensembl chr17:28,577,565...28,599,025
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TAP1
transporter 1, ATP binding cassette subfamily B member
susceptibility
IAGP
DNA:SNPs: :
RGD
PMID:18248301 PMID:12648582
RGD:6482260 , RGD:6482272
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
IAGP
DNA:SNPs: :
RGD
PMID:18248301 PMID:12648582
RGD:6482260 , RGD:6482272
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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TIMP4
TIMP metallopeptidase inhibitor 4
disease_progression
IEP
mRNA:increased expression:uterine cervix
RGD
PMID:15816637
RGD:2290434
NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
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TNF
tumor necrosis factor
susceptibility
IAGP
DNA:polymorphism:promoter:-308G>A (human)
RGD
PMID:19823053
RGD:2315116
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF10A
TNF receptor superfamily member 10a
IMP
RGD
PMID:16271751
RGD:2290493
NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
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TP53
tumor protein p53
IAGP
ClinVar Annotator: match by term: Cancer of cervix
ClinVar
PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 PMID:12509279 PMID:12826609 PMID:15982667 PMID:16754663 PMID:19913028 PMID:20516128 PMID:20538734 PMID:22110706 PMID:25131192 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30374176 PMID:30816478 More...
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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TP73
tumor protein p73
susceptibility
IAGP
DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human)
RGD
PMID:30420492
RGD:151347580
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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XRCC1
X-ray repair cross complementing 1
IAGP
DNA:polymorphism: :p.R194W
RGD
PMID:18851872
RGD:2302567
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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ZFHX3
zinc finger homeobox 3
IEP
mRNA:increased expression:uterine cervix
RGD
PMID:11812077
RGD:2315697
NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871
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SPINK1
serine peptidase inhibitor Kazal type 1
IEP
RGD
PMID:2258083
RGD:2300391
NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
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TFF1
trefoil factor 1
IEP
mRNA, protein:increased expression:uterine cervix
RGD
PMID:10727981
RGD:2298570
NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
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TFRC
transferrin receptor
IEP
protein:increased expression:uterine cervix
RGD
PMID:9739406
RGD:2292022
NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
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TP53
tumor protein p53
disease_progression
IEP
RGD
PMID:17354237
RGD:2298527
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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STK11
serine/threonine kinase 11
disease_progression
IAGP
DNA:mutations
RGD
PMID:12533684
RGD:2291947
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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ADAR
adenosine deaminase RNA specific
disease_progression
IEP
protein:increased expression:cervix squamous epithelium (human)
RGD
PMID:28109322
RGD:125097518
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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BAX
BCL2 associated X, apoptosis regulator
IEP
protein:increased expression:uterine cervix
RGD
PMID:17694953
RGD:1643352
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BIRC2
baculoviral IAP repeat containing 2
disease_progression
IEP
DNA, protein:amplification, increased expression:uterine cervix, nucleus
RGD
PMID:12208731
RGD:1643529
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BRIP1
BRCA1 interacting helicase 1
severity
IEP
mRNA, protein:increased expression:uterine cervix, nucleus (human)
RGD
PMID:24708616
RGD:11252104
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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CCL22
C-C motif chemokine ligand 22
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
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CCR4
C-C motif chemokine receptor 4
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,956,349
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CD82
CD82 molecule
IEP
protein:decreased expression:uterine cervix
RGD
PMID:15642213
RGD:2289399
NCBI chr11:44,564,409...44,620,358
Ensembl chr11:44,564,427...44,620,358
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CSF1R
colony stimulating factor 1 receptor
IEP
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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FGF7
fibroblast growth factor 7
IEP
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells
RGD
PMID:17306351
RGD:2289084
NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
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FGFR3
fibroblast growth factor receptor 3
no_association
IAGP
DNA:missense mutation:cds: p.S249G (human)
RGD
PMID:11605053
RGD:38500202
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
disease_progression
IEP
protein:increased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
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FOSL1
FOS like 1, AP-1 transcription factor subunit
IEP
protein:decreased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
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FOXP3
forkhead box P3
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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MIR21
microRNA 21
IEP
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR31
microRNA 31
IEP
RNA:increased expression:blood serum (human)
RGD
PMID:21658006
RGD:152998938
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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PDPN
podoplanin
disease_progression
IEP
RGD
PMID:16528371
RGD:2292237
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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SMAD3
SMAD family member 3
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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TIMP2
TIMP metallopeptidase inhibitor 2
IEP
protein:decreased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
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TMBIM6
transmembrane BAX inhibitor motif containing 6
disease_progression
IEP
mRNA:increased expression:uterine cervix
RGD
PMID:15337562
RGD:2291959
NCBI chr12:49,741,557...49,764,934
Ensembl chr12:49,707,725...49,764,934
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TNFRSF4
TNF receptor superfamily member 4
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153
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TNFSF4
TNF superfamily member 4
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331
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TP53
tumor protein p53
disease_progression
IEP
RGD
PMID:17969407
RGD:2298526
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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TYMP
thymidine phosphorylase
disease_progression
IEP
RGD
PMID:16803522
RGD:2293719
NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
IAGP
DNA:SNPs (human)
RGD
PMID:19202550
RGD:2315691
NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
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BAG1
BAG cochaperone 1
IEP
protein:increased expression:uterine cervix
RGD
PMID:10047462
RGD:2293889
NCBI chr 9:33,252,471...33,264,708
Ensembl chr 9:33,247,820...33,264,720
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BAK1
BCL2 antagonist/killer 1
IAGP
DNA:missense mutations:exon:multiple (human)
RGD
PMID:12771926
RGD:2315701
NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
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CCND3
cyclin D3
IEP
RGD
PMID:14751136
RGD:2316013
NCBI chr 6:41,934,933...42,050,035
Ensembl chr 6:41,934,934...42,050,357
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CD9
CD9 molecule
disease_progression
IEP
RGD
PMID:14695144
RGD:2326206
NCBI chr12:6,199,946...6,238,266
Ensembl chr12:6,199,715...6,238,271
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EFEMP2
EGF containing fibulin extracellular matrix protein 2
exacerbates
IEP
mRNA, protein:increased expression:cervix epithelium (human)
RGD
PMID:24737201
RGD:42722607
NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
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ERAP1
endoplasmic reticulum aminopeptidase 1
IAGP
DNA:SNPs (human)
RGD
PMID:19202550
RGD:2315691
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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FGFR3
fibroblast growth factor receptor 3
IAGP
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 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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GSTM1
glutathione S-transferase mu 1
onset
IAGP
associated with Papillomavirus Infections;DNA:deletion:cds (human)
RGD
PMID:10813720
RGD:7495819
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTT1
glutathione S-transferase theta 1
susceptibility
IAGP
DNA:deletion:cds (human)
RGD
PMID:10813720
RGD:7495819
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H19
H19 imprinted maternally expressed transcript
IEP
mRNA:decreased expression:uterine cervix
RGD
PMID:11997082
RGD:2306179
NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
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MGMT
O-6-methylguanine-DNA methyltransferase
IAGP
DNA:polymorphisms:cds:p.I143V, p.K178R (human)
RGD
PMID:17234722
RGD:2317690
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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PTGS1
prostaglandin-endoperoxide synthase 1
disease_progression
IEP
RGD
PMID:16803521
RGD:2300207
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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PTK2
protein tyrosine kinase 2
IEP
protein:increased tyrosine phosphorylation:cervix
RGD
PMID:14675348
RGD:2292568
NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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SPARC
secreted protein acidic and cysteine rich
IDA
DNA:hypermethylation
RGD
PMID:16434596
RGD:2300022
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
IAGP
DNA:SNP: :(rs4148876)(human)
RGD
PMID:17366619
RGD:6482264
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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TK1
thymidine kinase 1
IEP
protein:increased expression:serum (human)
RGD
PMID:11474248
RGD:2317243
NCBI chr17:78,174,079...78,187,204
Ensembl chr17:78,174,091...78,187,233
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TSG101
tumor susceptibility 101
IDA
mRNA:alternative form:uterine cervix mRNA:alternative forms:uterine cervix:multiple
RGD
PMID:10600297 PMID:10505033
RGD:2291851 , RGD:2291852
NCBI chr11:18,480,311...18,526,942
Ensembl chr11:18,468,336...18,526,951
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