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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 uteri carcinoma in situ
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Accession:DOID:8991 term browser browse the term
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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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 IEP protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression IEP protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IDA DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G CADM1 cell adhesion molecule 1 severity IEP RGD PMID:17009984 RGD:2289089 NCBI chr11:115,169,236...115,504,415
Ensembl chr11:115,169,218...115,504,957 		JBrowse link
G CCND1 cyclin D1 IEP protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCNE1 cyclin E1 IEP protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312 		JBrowse link
G CCNG1 cyclin G1 IEP protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 5:163,437,571...163,457,640
Ensembl chr 5:163,437,569...163,448,199 		JBrowse link
G CD274 CD274 molecule severity IEP associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566 		JBrowse link
G CD46 CD46 molecule IEP protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CDH1 cadherin 1 IDA DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression IEP associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression IEP associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression IDA
IEP		 DNA:hypermethylation
protein:increased expression:uterine cervix		 RGD PMID:16778587 PMID:17415114 PMID:17910346 PMID:16406113 RGD:2296054, RGD:2289676, RGD:2289675, RGD:2296058 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IEP protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression 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 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression IEP protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IEP protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330 		JBrowse link
G FASLG Fas ligand IEP associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G HDAC1 histone deacetylase 1 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635 		JBrowse link
G HDAC2 histone deacetylase 2 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G HDAC6 histone deacetylase 6 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP associated with Papillomavirus Infections RGD PMID:15458897 PMID:10073700 PMID:18351579 RGD:2306232, RGD:2314703, RGD:2306230 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)		 RGD PMID:14675666 PMID:17709267 RGD:2290021, RGD:2290004 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G 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 		JBrowse link
G MGP matrix Gla protein IEP RGD PMID:17960611 RGD:2293584 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G 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 		JBrowse link
G MLH1 mutL homolog 1 IEP protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression IEP protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MSH2 mutS homolog 2 IEP protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G PDCD1 programmed cell death 1 severity IEP associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PHB1 prohibitin 1 IEP protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,049...49,414,905 		JBrowse link
G POU4F1 POU class 4 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552 		JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression IEP protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RB1 RB transcriptional corepressor 1 IEP associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression IEP protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G SKP2 S-phase kinase associated protein 2 severity IEP associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849 		JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 disease_progression IEP associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression IEP protein:increased expression:nucleus
protein:increased serine phosphorylation:cervix epithelium		 RGD PMID:17110342 PMID:16005944 RGD:2291916, RGD:2298536 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TERC telomerase RNA component disease_progression IAGP DNA:amplification:uterine cervix, epithelial cell RGD PMID:15793301 RGD:2291968 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression IEP protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G THRB thyroid hormone receptor beta IAGP DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G TLR9 toll like receptor 9 disease_progression IEP protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TOP2A DNA topoisomerase II alpha IEP RGD PMID:19051821 RGD:2315126 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896 		JBrowse link
G TP63 tumor protein p63 disease_progression IEP RGD PMID:16804722 RGD:2315435 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TP73 tumor protein p73 disease_progression IEP mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IEP protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    disease of cellular proliferation 23676
      pre-malignant neoplasm 347
        in situ carcinoma 144
          uterus carcinoma in situ 50
            cervix uteri carcinoma in situ 50
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      Urogenital Diseases 13584
        Female Urogenital Diseases and Pregnancy Complications 5986
          Female Urogenital Diseases 4955
            female reproductive system disease 4952
              Female Genital Neoplasms 2444
                Uterine Neoplasms 1274
                  uterine cancer 733
                    uterine carcinoma 50
                      uterus carcinoma in situ 50
                        cervix uteri carcinoma in situ 50
paths to the root