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 .
G
Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
DNA:SNPs (human)
RGD
PMID:19202550
RGD:2315691
NCBI chr15:26,618,146...26,620,330
Ensembl chr15:24,144,362...24,146,785
G
Bag1
BAG cochaperone 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:10047462
RGD:2293889
NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:56,068,494...56,081,075
G
Bak1
BCL2-antagonist/killer 1
ISO
DNA:missense mutations:exon:multiple (human)
RGD
PMID:12771926
RGD:2315701
NCBI chr20:5,102,334...5,111,615
Ensembl chr20:5,100,480...5,109,264
G
Ccnd3
cyclin D3
ISO
RGD
PMID:14751136
RGD:2316013
NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371
G
Cd9
CD9 molecule
disease_progression
ISO
RGD
PMID:14695144
RGD:2326206
NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:158,256,328...158,289,222
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 1:212,211,057...212,218,739
Ensembl chr 1:202,781,665...202,789,414
G
Erap1
endoplasmic reticulum aminopeptidase 1
ISO
DNA:SNPs (human)
RGD
PMID:19202550
RGD:2315691
NCBI chr 2:5,666,337...5,705,256
Ensembl chr 2:3,931,904...3,972,447
G
Fgfr3
fibroblast growth factor receptor 3
ISO
RGD
PMID:10471491
RGD:2289864
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
G
Gstm1
glutathione S-transferase mu 1
onset
ISO
associated with Papillomavirus Infections;DNA:deletion:cds (human)
RGD
PMID:10813720
RGD:7495819
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion:cds (human)
RGD
PMID:10813720
RGD:7495819
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
G
H19
H19 imprinted maternally expressed transcript
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:11997082
RGD:2306179
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:polymorphisms:cds:p.I143V, p.K178R (human)
RGD
PMID:17234722
RGD:2317690
NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:191,710,930...191,937,756
G
Ptgs1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
RGD
PMID:16803521
RGD:2300207
NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586
G
Ptk2
protein tyrosine kinase 2
ISO
protein:increased tyrosine phosphorylation:cervix
RGD
PMID:14675348
RGD:2292568
NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783
G
Sparc
secreted protein acidic and cysteine rich
ISO
DNA:hypermethylation
RGD
PMID:16434596
RGD:2300022
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNP: :(rs4148876)(human)
RGD
PMID:17366619
RGD:6482264
NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407
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
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 1:106,549,035...106,578,859
Ensembl chr 1:97,410,848...97,442,554
G
Spink1
serine peptidase inhibitor, Kazal type 1
ISO
RGD
PMID:2258083
RGD:2300391
NCBI chr18:36,121,626...36,133,596
Ensembl chr18:35,824,550...35,882,642
G
Tff1
trefoil factor 1
ISO
mRNA, protein:increased expression:uterine cervix
RGD
PMID:10727981
RGD:2298570
NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,235,736...9,239,597
G
Tfrc
transferrin receptor
ISO
protein:increased expression:uterine cervix
RGD
PMID:9739406
RGD:2292022
NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257
G
Tp53
tumor protein p53
disease_progression
ISO
RGD
PMID:17354237
RGD:2298527
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Stk11
serine/threonine kinase 11
disease_progression
ISO
DNA:mutations
RGD
PMID:12533684
RGD:2291947
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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
G
Bax
BCL2 associated X, apoptosis regulator
ISO
protein:increased expression:uterine cervix
RGD
PMID:17694953
RGD:1643352
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
G
Brip1
BRCA1 interacting DNA helicase 1
severity
ISO
mRNA, protein:increased expression:uterine cervix, nucleus (human)
RGD
PMID:24708616
RGD:11252104
NCBI chr10:71,402,035...71,528,083
Ensembl chr10:70,907,371...71,030,324
G
Ccl22
C-C motif chemokine ligand 22
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,257,601...10,264,400
G
Ccr4
C-C motif chemokine receptor 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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
G
Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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
G
Fgfr3
fibroblast growth factor receptor 3
no_association
ISO
DNA:missense mutation:cds: p.S249G (human)
RGD
PMID:11605053
RGD:38500202
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036
G
Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:202,754,529...202,764,930
G
Foxp3
forkhead box P3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
G
Mir21
microRNA 21
ISO
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
G
Mir31
microRNA 31
ISO
RNA:increased expression:blood serum (human)
RGD
PMID:21658006
RGD:152998938
NCBI chr 5:108,714,849...108,714,954
G
Pdpn
podoplanin
disease_progression
ISO
RGD
PMID:16528371
RGD:2292237
NCBI chr 5:160,884,995...160,919,112
Ensembl chr 5:155,601,691...155,635,656
G
Smad3
SMAD family member 3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960
G
Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:decreased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611
G
Tmbim6
transmembrane BAX inhibitor motif containing 6
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:15337562
RGD:2291959
NCBI chr 7:132,405,217...132,422,492
Ensembl chr 7:130,527,316...130,543,633
G
Tnfrsf4
TNF receptor superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:166,606,909...166,609,599
G
Tnfsf4
TNF superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr13:76,256,654...76,280,133
Ensembl chr13:73,723,329...73,746,788
G
Tp53
tumor protein p53
disease_progression
ISO
RGD
PMID:17969407
RGD:2298526
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Tymp
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:16803522
RGD:2293719
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all