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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   cervical intraepithelial neoplasia
  

Disease ID 764
Disease cervical intraepithelial neoplasia
Definition
A malignancy arising in uterine cervical epithelium and confined thereto, representing a continuum of histological changes ranging from well-differentiated CIN 1 (formerly, mild dysplasia) to severe dysplasia/carcinoma in situ, CIN 3. The lesion arises at the squamocolumnar cell junction at the transformation zone of the endocervical canal, with a variable tendency to develop invasive epidermoid carcinoma, a tendency that is enhanced by concomitant human papillomaviral infection. (Segen, Dictionary of Modern Medicine, 1992)
Synonym
cerv. intraepith. neoplasia
cervical intraepith. neoplasia
cervical intraepithelial neopl
cervical intraepithelial neoplasia (cin)
cervical intraepithelial neoplasia (disorder)
cervical intraepithelial neoplasia [disease/finding]
cervical intraepithelial neoplasm
cervical intraepithelial neoplasms
cervix intraepithelial neoplasia
cervix uteri intraepithelial neoplasia
cin
cin - cervical intraepithelial neoplasia
intraepithelial neopl cervical
intraepithelial neoplasia of cervix
intraepithelial neoplasia of cervix uteri
intraepithelial neoplasia of the cervix
intraepithelial neoplasia of the cervix uteri
intraepithelial neoplasia of the uterine cervix
intraepithelial neoplasia of uterine cervix
intraepithelial neoplasia, cervical
intraepithelial neoplasm, cervical
intraepithelial neoplasms, cervical
neopl cervical intraepithelial
neoplasia, cervical intraepithelial
neoplasm, cervical intraepithelial
neoplasms, cervical intraepithelial
precancerous changes of the cervix
uterine cervix intraepithelial neoplasia
OMIM
UMLS
C0206708
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:7)
C0302592  |  cervical ca  |  6
C0007847  |  cervical cancer  |  4
C0302592  |  cervical carcinoma  |  2
C0007137  |  squamous cell carcinoma  |  1
C0027086  |  myoma  |  1
C0030354  |  papilloma  |  1
C0042769  |  virus infection  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
4524  |  MTHFR  |  CTD_human
57026  |  PDXP  |  OMIM
5457  |  POU4F1  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:7)
3106  |  HLA-B  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3458  |  IFNG  |  CIPHER
4524  |  MTHFR  |  CIPHER;CTD_human
4548  |  MTR  |  CIPHER
5457  |  POU4F1  |  CTD_human
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 764
Disease cervical intraepithelial neoplasia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
HP:0030731  |  Carcinoma  |  3
HP:0030160  |  Uterine cervicitis  |  1
HP:0012740  |  Papilloma  |  1
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0002664  |  Neoplasia  |  1
Disease ID 764
Disease cervical intraepithelial neoplasia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:11)
C2707258  |  infections
C2364133  |  infection
C2248595  |  dedifferentiation
C2033110  |  papillary adenocarcinoma of cervix
C0950124  |  papillomavirus infection
C0950124  |  papilloma virus infection
C0518948  |  chlamydia trachomatis infection
C0343641  |  human papilloma virus infection
C0085166  |  bacterial vaginosis
C0029896  |  ent disease
C0017658  |  glomerulonephritis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0009450  |  infection  |  9
C0950124  |  papillomavirus infection  |  1
C0021311  |  infections  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:15)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1042522247820347157TP53umls:C0206708BeFreeThe results of our study suggest that combined analysis of TP53 polymorphisms Arg72Pro and 16-bp Ins/Del may help to monitor the development of CIN in Brazilian women.0.0389246032014TP53177676154GT,C
rs1042522194235387157TP53umls:C0206708GAD[TP53 polymorphisms may affect both CIN3+ and persistent HPV infection. However, in our population proline, not arginine, at codon 72 was associated with increased risk of CIN3+ and HPV persistence. Associations with TP53 polymorphisms and haplotypes may v]0.0389246032009TP53177676154GT,C
rs1042522244744557157TP53umls:C0206708BeFreeWe performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women.0.0389246032013TP53177676154GT,C
rs1042522205639227157TP53umls:C0206708GAD[TP53 genetic polymorphisms and environmental risk factors associated with cervical carcinogenesis in a cohort of Brazilian women with cervical lesions.]0.0389246032010TP53177676154GT,C
rs11540654247820347157TP53umls:C0206708BeFreeThe results of our study suggest that combined analysis of TP53 polymorphisms Arg72Pro and 16-bp Ins/Del may help to monitor the development of CIN in Brazilian women.0.0389246032014TP53177676040CT,G,A
rs11540654244744557157TP53umls:C0206708BeFreeWe performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women.0.0389246032013TP53177676040CT,G,A
rs1554286233638917124TNFumls:C0206708BeFreeWhen compared to controls, the CIN patients showed increased frequencies of CC (rs1554286) and AG+GG (rs1800896) genotypes in IL-10 and GA+AA (rs1800629) genotype in TNF-α (OR = 2.24 (1.13-4.44), p = 0.018; OR = 2.61 (1.30-5.26), p = 0.005, and OR = 2.11 (1.08-4.09), p = 0.025, respectively).0.0060912732013IL101206770888AG
rs1799782175043807515XRCC1umls:C0206708BeFreeTo evaluate contribution of single nucleotide polymorphisms (SNPs) of X-ray repair cross-complementing group 1 (XRCC1) gene to the risk of cervical carcinoma, we conducted a case-control study of 1012 patients including 539 carcinoma and 473 cervical intraepithelial neoplasia (CIN) and 800 normal women controls and genotyped three XRCC1 SNPs (Arg194Trp, Arg280His, and Arg399Gln).0.0052769482007XRCC11943553422GA
rs1800629233638917124TNFumls:C0206708BeFreeWhen compared to controls, the CIN patients showed increased frequencies of CC (rs1554286) and AG+GG (rs1800896) genotypes in IL-10 and GA+AA (rs1800629) genotype in TNF-α (OR = 2.24 (1.13-4.44), p = 0.018; OR = 2.61 (1.30-5.26), p = 0.005, and OR = 2.11 (1.08-4.09), p = 0.025, respectively).0.0060912732013TNF631575254GA
rs1800896233638917124TNFumls:C0206708BeFreeWhen compared to controls, the CIN patients showed increased frequencies of CC (rs1554286) and AG+GG (rs1800896) genotypes in IL-10 and GA+AA (rs1800629) genotype in TNF-α (OR = 2.24 (1.13-4.44), p = 0.018; OR = 2.61 (1.30-5.26), p = 0.005, and OR = 2.11 (1.08-4.09), p = 0.025, respectively).0.0060912732013IL101206773552TC
rs25487175043807515XRCC1umls:C0206708BeFreeTo evaluate contribution of single nucleotide polymorphisms (SNPs) of X-ray repair cross-complementing group 1 (XRCC1) gene to the risk of cervical carcinoma, we conducted a case-control study of 1012 patients including 539 carcinoma and 473 cervical intraepithelial neoplasia (CIN) and 800 normal women controls and genotyped three XRCC1 SNPs (Arg194Trp, Arg280His, and Arg399Gln).0.0052769482007XRCC11943551574TC
rs25489175043807515XRCC1umls:C0206708BeFreeTo evaluate contribution of single nucleotide polymorphisms (SNPs) of X-ray repair cross-complementing group 1 (XRCC1) gene to the risk of cervical carcinoma, we conducted a case-control study of 1012 patients including 539 carcinoma and 473 cervical intraepithelial neoplasia (CIN) and 800 normal women controls and genotyped three XRCC1 SNPs (Arg194Trp, Arg280His, and Arg399Gln).0.0052769482007XRCC11943552260CT,G
rs386493716175043807515XRCC1umls:C0206708BeFreeTo evaluate contribution of single nucleotide polymorphisms (SNPs) of X-ray repair cross-complementing group 1 (XRCC1) gene to the risk of cervical carcinoma, we conducted a case-control study of 1012 patients including 539 carcinoma and 473 cervical intraepithelial neoplasia (CIN) and 800 normal women controls and genotyped three XRCC1 SNPs (Arg194Trp, Arg280His, and Arg399Gln).0.0052769482007NANANANANA
rs386545546175043807515XRCC1umls:C0206708BeFreeTo evaluate contribution of single nucleotide polymorphisms (SNPs) of X-ray repair cross-complementing group 1 (XRCC1) gene to the risk of cervical carcinoma, we conducted a case-control study of 1012 patients including 539 carcinoma and 473 cervical intraepithelial neoplasia (CIN) and 800 normal women controls and genotyped three XRCC1 SNPs (Arg194Trp, Arg280His, and Arg399Gln).0.0052769482007NANANANANA
rs397507444244744557157TP53umls:C0206708BeFreeWe performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women.0.0389246032013MTHFR111794407TG
GWASdb Annotation(Total Genotypes:1)
Chr Pos SNP_Id RefGene EnsemblGene ENCODE_Factor ENCODE_TFBS Chromosome_interaction GTEx_eQTL SNP_TFBS_affinity_GWAS3D SNP_miRNA_target_affinity_PolymiRTS SNP_splicing_effect_Skippy SNP_splicing_effect_MutPred_Splice SNP_ns_protein_effect_dbNSFP SNP_syn_effect_Silva SNP_phosphorylation_effect_PhosSNP PhastCons_score PhyloP_score GERP++_RS Segway_state Ancestral_allele ESP_AF ESP_AFR ESP_AFR ESP_EUR TG_ASN TG_AMR TG_AFR TG_EUR Type Consequence bStatistic EncH3K27Ac EncH3K4Me1 EncH3K4Me3 EncNucleo OMIM Clinvar
2238040842rs713977NM_018957,SH3BP1ENST00000417536,ENSG00000100092ENST00000357436,ENSG00000100092ENST00000442465,ENSG00000100092ENST00000336738,ENSG00000100092ENST00000451997,ENSG00000100092ENST00000469947,ENSG00000100092ENST00000495174,ENSG00000100092ENST00000456099,ENSG00000233360ENST00000397014,ENSG00000100092ENST00000471650,ENSG00000100092ENST00000459646,ENSG00000100092MCV-1NAchr22,38040001,38050000,chr22,31590001,31600000,4,Hi-Cchr22,38040001,38050000,chr22,38060001,38070000,8,Hi-CNACep3-primary,2.0766Lys14-primary,1.5543Rdr1-DBD-primary,2.1132Rds1-primary,1.338Rsc30-primary,1.3NANANANANANA0.000-0.0910.342TF2TNANA
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 764
Disease cervical intraepithelial neoplasia
Case(Waiting for update.)