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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
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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 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr 8:37,017,827...37,131,462
Ensembl chr 8:37,017,545...37,131,615 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr16:63,162,827...63,243,928 JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 1:106,539,262...106,876,397
Ensembl chr 1:106,539,136...106,606,637 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 6:24,879,923...24,888,985 JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806 		JBrowse link
G CD46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878 		JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531 		JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190 		JBrowse link
G 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 chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652 		JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742 		JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:45,927,625...45,951,636
Ensembl chr  X:45,928,092...45,952,929 		JBrowse link
G 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 chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		JBrowse link
G IL1B interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G LOC103233229 cadherin-1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		JBrowse link
G LOC103244924 cyclin-G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr23:65,709,759...65,716,913
Ensembl chr23:65,709,786...65,714,711 		JBrowse link
G MGP matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr11:14,776,668...14,780,796
Ensembl chr11:14,776,209...14,780,947 		JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393 		JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G PDCD1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088 		JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr 3:57,667,248...57,673,071 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516 		JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632 		JBrowse link
G 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 chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982 		JBrowse link
G 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 chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr15:68,797,410...69,161,256
Ensembl chr15:68,802,078...68,902,292 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701 		JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr15:83,861,489...84,126,675 JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr17:28,377,959...28,394,508 JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of cellular proliferation 7341
      pre-malignant neoplasm 265
        in situ carcinoma 135
          uterus carcinoma in situ 44
            cervix uteri carcinoma in situ 44
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      Urogenital Diseases 4807
        Female Urogenital Diseases and Pregnancy Complications 2512
          Female Urogenital Diseases 2083
            female reproductive system disease 2080
              Female Genital Neoplasms 963
                Uterine Neoplasms 437
                  uterine cancer 300
                    uterine carcinoma 44
                      uterus carcinoma in situ 44
                        cervix uteri carcinoma in situ 44
paths to the root