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 uteri carcinoma in situ
Accession: DOID:8991
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Definition: An uterus carcinoma in situ that is located_in the uterine cervix. (DO)
Synonyms: exact_synonym: CIN III; CIN III - carcinoma in situ of cervix; CIN III - severe dyskaryosis; Cervical Intraepithelial Neoplasia, Grade III; Cervical Intraepithelial Neoplasm; Cervical Intraepithelial Neoplasms; carcinoma in situ of cervix; carcinoma in situ of uterine cervix; carcinoma of cervix stage 0; cervical intraepithelial neoplasia; cervical intraepithelial neoplasia grade III with severe dysplasia; cervix Ca in situ; severe dysplasia of cervix; severe dysplasia of the cervix uteri; squamous intraepithelial neoplasia, grade III
primary_id: MESH:D002578
xref: ICD10CM:D06 ; ICD9CM:233.1 ; NCI:C3782 ; NCI:C4000
For additional species annotation, visit the
Alliance of Genome Resources .
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ADAM9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122
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BCL2
BCL2 apoptosis regulator
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18561741
RGD:2298889
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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BRCA1
BRCA1 DNA repair associated
ISO
DNA:deletions:exon
RGD
PMID:10442317
RGD:2298942
NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
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CADM1
cell adhesion molecule 1
severity
ISO
RGD
PMID:17009984
RGD:2289089
NCBI chr 5:17,865,317...18,190,855
Ensembl chr 5:17,864,453...18,194,694
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CCND1
cyclin D1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
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CCNE1
cyclin E1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
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CCNG1
cyclin G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211
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CD274
CD274 molecule
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
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CDH1
cadherin 1
ISO
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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CDK4
cyclin dependent kinase 4
disease_progression
ISO
associated with Papillomavirus Infections;protein:increased expression:cervix epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:9546362
RGD:8662446
NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
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CDKN1B
cyclin dependent kinase inhibitor 1B
disease_progression
ISO
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
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CDKN2A
cyclin dependent kinase inhibitor 2A
disease_progression
ISO
protein:increased expression protein:increased expression:uterine cervix DNA:hypermethylation
RGD
PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346
RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058
NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
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CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
protein:increased expression:uterine cervix
RGD
PMID:17632454
RGD:2289695
NCBI chr11:41,259,627...41,264,832
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CSF1R
colony stimulating factor 1 receptor
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
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CTNNA1
catenin alpha 1
disease_progression
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
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DLG1
discs large MAGUK scaffold protein 1
ISO
protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis
RGD
PMID:15221964
RGD:2306812
NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547
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FASLG
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
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HDAC2
histone deacetylase 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
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HDAC6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427
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HLA-DRB1
MHC class II DLA DRB1 beta chain
ISO
associated with Papillomavirus Infections
RGD
PMID:10073700 PMID:15458897 PMID:18351579
RGD:2306230 RGD:2306232 RGD:2314703
NCBI chr12:2,151,409...2,164,564
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IGFBP3
insulin like growth factor binding protein 3
ISO
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03) protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD
PMID:14675666 PMID:17709267
RGD:2290004 RGD:2290021
NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
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IL1B
interleukin 1 beta
susceptibility
ISO
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)
RGD
PMID:25893807
RGD:36174015
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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LOC609365
CD46 molecule, complement regulatory protein-like
ISO
protein:increased expression:uterine cervix
RGD
PMID:9358772
RGD:2293549
NCBI chr 7:6,602,762...6,646,561
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MGP
matrix Gla protein
ISO
RGD
PMID:17960611
RGD:2293584
NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673
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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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MLH1
mutL homolog 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
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MMP2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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MSH2
mutS homolog 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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PDCD1
programmed cell death 1
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:T cell
RGD
PMID:23521696
RGD:40822817
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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PHB1
prohibitin 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chr 9:25,525,711...25,536,722
Ensembl chr 9:25,526,649...25,536,722
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POU4F1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20190800
NCBI chr22:31,992,657...31,997,066
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PTEN
phosphatase and tensin homolog
ISO
protein:decreased expression:uterine cervix
RGD
PMID:17672936
RGD:2298701
NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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PTGS2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:uterine cervix, epithelial cell
RGD
PMID:18565574
RGD:2299119
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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RB1
RB transcriptional corepressor 1
ISO
associated with Adenocarcinoma
RGD
PMID:18234283
RGD:2299896
NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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RELA
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
protein:altered localization, increased expression:nucleus, uterine cervix
RGD
PMID:16850495
RGD:2298759
NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
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SKP2
S-phase kinase associated protein 2
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:19094580
RGD:2315036
NCBI chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307
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SRSF1
serine and arginine rich splicing factor 1
disease_progression
ISO
associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human)
RGD
PMID:19718710
RGD:11039410
NCBI chr 9:32,692,517...32,696,325
Ensembl chr 9:32,694,073...32,696,285
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STAT3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased serine phosphorylation:cervix epithelium protein:increased expression:nucleus
RGD
PMID:16005944 PMID:17110342
RGD:2291916 RGD:2298536
NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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TERT
telomerase reverse transcriptase
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:17644806
RGD:2291985
NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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THRB
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11483913
RGD:2315099
NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283
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TLR9
toll like receptor 9
disease_progression
ISO
protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001)
RGD
PMID:17440926
RGD:2301099
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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TOP2A
DNA topoisomerase II alpha
ISO
RGD
PMID:19051821
RGD:2315126
NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496
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TP63
tumor protein p63
disease_progression
ISO
RGD
PMID:16804722
RGD:2315435
NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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TP73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11870517
RGD:2290589
NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:uterine cervix
RGD
PMID:19723043
RGD:2315456
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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XIAP
X-linked inhibitor of apoptosis
ISO
protein:increased expression:uterine cervix
RGD
PMID:18325467
RGD:2315850
NCBI chr X:95,300,234...95,356,103
Ensembl chr X:95,331,827...95,351,582
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