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 carcinoma
Accession: DOID:2893
browse the term
Definition: A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)
Synonyms: exact_synonym: carcinoma cervix uteri; carcinoma of cervix; carcinoma of the cervix uteri; cervical carcinoma
narrow_synonym: HPV-associated cervical carcinoma
xref: EFO:0001061 ; EFO:1002015 ; NCI:C24068 ; NCI:C9039
For additional species annotation, visit the
Alliance of Genome Resources .
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
DNA:SNPs (human)
RGD
PMID:19202550
RGD:2315691
NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
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BAG1
BAG cochaperone 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:10047462
RGD:2293889
NCBI chr11:50,348,833...50,363,532
Ensembl chr11:50,350,999...50,363,581
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BAK1
BCL2 antagonist/killer 1
ISO
DNA:missense mutations:exon:multiple (human)
RGD
PMID:12771926
RGD:2315701
NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018
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CCND3
cyclin D3
ISO
RGD
PMID:14751136
RGD:2316013
NCBI chr12:10,593,786...10,688,304
Ensembl chr12:10,594,712...10,600,891
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CD9
CD9 molecule
disease_progression
ISO
RGD
PMID:14695144
RGD:2326206
NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576
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EFEMP2
EGF containing fibulin extracellular matrix protein 2
exacerbates
ISO
mRNA, protein:increased expression:cervix epithelium (human)
RGD
PMID:24737201
RGD:42722607
NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
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ERAP1
endoplasmic reticulum aminopeptidase 1
ISO
DNA:SNPs (human)
RGD
PMID:19202550
RGD:2315691
NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
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FGFR3
fibroblast growth factor receptor 3
ISO
DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported
RGD
PMID:10471491 PMID:11114733
RGD:2289864 RGD:2289865
NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
DNA:polymorphisms:cds:p.I143V, p.K178R (human)
RGD
PMID:17234722
RGD:2317690
NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
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PTGS1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
RGD
PMID:16803521
RGD:2300207
NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
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PTK2
protein tyrosine kinase 2
ISO
protein:increased tyrosine phosphorylation:cervix
RGD
PMID:14675348
RGD:2292568
NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
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SPARC
secreted protein acidic and cysteine rich
ISO
DNA:hypermethylation
RGD
PMID:16434596
RGD:2300022
NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNP: :(rs4148876)(human)
RGD
PMID:17366619
RGD:6482264
NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
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TK1
thymidine kinase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:11474248
RGD:2317243
NCBI chr 9:2,959,450...2,970,908
Ensembl chr 9:2,959,488...2,971,064
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TSG101
tumor susceptibility 101
ISO
mRNA:alternative form:uterine cervix mRNA:alternative forms:uterine cervix:multiple
RGD
PMID:10505033 PMID:10600297
RGD:2291851 RGD:2291852
NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808
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SPINK1
serine peptidase inhibitor Kazal type 1
ISO
RGD
PMID:2258083
RGD:2300391
NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706
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TFF1
trefoil factor 1
ISO
mRNA, protein:increased expression:uterine cervix
RGD
PMID:10727981
RGD:2298570
NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
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TFRC
transferrin receptor
ISO
protein:increased expression:uterine cervix
RGD
PMID:9739406
RGD:2292022
NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
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TP53
tumor protein p53
disease_progression
ISO
RGD
PMID:17354237
RGD:2298527
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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STK11
serine/threonine kinase 11
disease_progression
ISO
DNA:mutations
RGD
PMID:12533684
RGD:2291947
NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
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ADAR
adenosine deaminase RNA specific
disease_progression
ISO
protein:increased expression:cervix squamous epithelium (human)
RGD
PMID:28109322
RGD:125097518
NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
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BAX
BCL2 associated X, apoptosis regulator
ISO
protein:increased expression:uterine cervix
RGD
PMID:17694953
RGD:1643352
NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
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BIRC2
baculoviral IAP repeat containing 2
disease_progression
ISO
DNA, protein:amplification, increased expression:uterine cervix, nucleus
RGD
PMID:12208731
RGD:1643529
NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
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BRIP1
BRCA1 interacting helicase 1
severity
ISO
mRNA, protein:increased expression:uterine cervix, nucleus (human)
RGD
PMID:24708616
RGD:11252104
NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
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CCL22
C-C motif chemokine ligand 22
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
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CCR4
C-C motif chemokine receptor 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
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CD82
CD82 molecule
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15642213
RGD:2289399
NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768
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CSF1R
colony stimulating factor 1 receptor
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
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FGF7
fibroblast growth factor 7
ISO
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells
RGD
PMID:17306351
RGD:2289084
NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
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FGFR3
fibroblast growth factor receptor 3
no_association
ISO
DNA:missense mutation:cds: p.S249G (human)
RGD
PMID:11605053
RGD:38500202
NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
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FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
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FOXP3
forkhead box P3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
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MIR21
microRNA mir-21
ISO
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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MIR31
microRNA mir-31
ISO
RNA:increased expression:blood serum (human)
RGD
PMID:21658006
RGD:152998938
NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503
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PDPN
podoplanin
disease_progression
ISO
RGD
PMID:16528371
RGD:2292237
NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
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SMAD3
SMAD family member 3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
protein:decreased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
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TMBIM6
transmembrane BAX inhibitor motif containing 6
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:15337562
RGD:2291959
NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783
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TNFRSF4
TNF receptor superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
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TNFSF4
TNF superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
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TP53
tumor protein p53
disease_progression
ISO
RGD
PMID:17969407
RGD:2298526
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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