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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   cervical squamous cell carcinoma
  

Disease ID 1090
Disease cervical squamous cell carcinoma
Definition
A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.
Synonym
cancer cell cervix squamous
cancer cells cervix squamous
cancer of the cervix, squamous cell
carcinoma cell cervix squamous
carcinoma of the cervix, squamous cell
cervical cancer, squamous cell carcinoma
cervical epidermoid carcinoma
cervical squamous cell carcinoma, nos
cervical squamous cell carcinoma, not otherwise specified
cervix cancer, squamous cell carcinoma
cervix squamous cell carcinoma
cervix uteri squamous cell carcinoma
epidermoid carcinoma of the cervix
squamous cell cancer of the cervix
squamous cell carcinoma cervical
squamous cell carcinoma cervix
squamous cell carcinoma of cervix
squamous cell carcinoma of cervix (disorder)
squamous cell carcinoma of cervix uteri
squamous cell carcinoma of the cervix
squamous cell carcinoma of the cervix uteri
squamous cell carcinoma of the uterine cervix
squamous cell carcinoma of uterine cervix
squamous cervical cancer
uterine cervical cancer, squamous cell carcinoma
uterine cervix cancer, squamous cell carcinoma
uterine cervix squamous cell carcinoma
Orphanet
DOID
UMLS
C0279671
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:11)
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:3)
940  |  CD28  |  CIPHER
1493  |  CTLA4  |  CIPHER
29851  |  ICOS  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:96)
37  |  ACADVL  |  1.115  |  DISEASES
51309  |  ARMCX1  |  3.24  |  DISEASES
51374  |  ATRAID  |  3.431  |  DISEASES
554  |  AVPR2  |  1.157  |  DISEASES
9531  |  BAG3  |  1.046  |  DISEASES
578  |  BAK1  |  1.134  |  DISEASES
8678  |  BECN1  |  1.545  |  DISEASES
676  |  BRDT  |  1.952  |  DISEASES
682  |  BSG  |  1.157  |  DISEASES
900  |  CCNG1  |  1.509  |  DISEASES
960  |  CD44  |  1.005  |  DISEASES
1029  |  CDKN2A  |  3.355  |  DISEASES
1164  |  CKS2  |  1.838  |  DISEASES
54544  |  CRCT1  |  3.105  |  DISEASES
1499  |  CTNNB1  |  2.532  |  DISEASES
9547  |  CXCL14  |  1.016  |  DISEASES
23234  |  DNAJC9  |  3.042  |  DISEASES
29102  |  DROSHA  |  1.969  |  DISEASES
1855  |  DVL1  |  1.223  |  DISEASES
1915  |  EEF1A1  |  1.099  |  DISEASES
83481  |  EPPK1  |  2.552  |  DISEASES
2195  |  FAT1  |  1.001  |  DISEASES
2263  |  FGFR2  |  1.516  |  DISEASES
2272  |  FHIT  |  2.138  |  DISEASES
2805  |  GOT1  |  1.698  |  DISEASES
3068  |  HDGF  |  1.445  |  DISEASES
3123  |  HLA-DRB1  |  2.107  |  DISEASES
8519  |  IFITM1  |  1.377  |  DISEASES
3594  |  IL12RB1  |  1.164  |  DISEASES
83737  |  ITCH  |  1.733  |  DISEASES
3655  |  ITGA6  |  1.917  |  DISEASES
3710  |  ITPR3  |  1.253  |  DISEASES
3745  |  KCNB1  |  1.282  |  DISEASES
81033  |  KCNH6  |  2.269  |  DISEASES
10112  |  KIF20A  |  2.056  |  DISEASES
688  |  KLF5  |  1.142  |  DISEASES
113730  |  KLHDC7B  |  3.622  |  DISEASES
5650  |  KLK7  |  1.098  |  DISEASES
3880  |  KRT19  |  1.935  |  DISEASES
3855  |  KRT7  |  1.743  |  DISEASES
3914  |  LAMB3  |  2.158  |  DISEASES
3965  |  LGALS9  |  1.153  |  DISEASES
3981  |  LIG4  |  1.369  |  DISEASES
348120  |  LINC01193  |  1.734  |  DISEASES
121227  |  LRIG3  |  2.381  |  DISEASES
23542  |  MAPK8IP2  |  3.263  |  DISEASES
10747  |  MASP2  |  1.307  |  DISEASES
4149  |  MAX  |  1.848  |  DISEASES
27030  |  MLH3  |  1.568  |  DISEASES
64710  |  NUCKS1  |  2.255  |  DISEASES
11240  |  PADI2  |  1.385  |  DISEASES
5094  |  PCBP2  |  1.867  |  DISEASES
10401  |  PIAS3  |  1.447  |  DISEASES
5580  |  PRKCD  |  1.648  |  DISEASES
5696  |  PSMB8  |  1.049  |  DISEASES
5743  |  PTGS2  |  1.238  |  DISEASES
22827  |  PUF60  |  2.154  |  DISEASES
83871  |  RAB34  |  2.002  |  DISEASES
5890  |  RAD51B  |  1.389  |  DISEASES
5893  |  RAD52  |  1.298  |  DISEASES
2889  |  RAPGEF1  |  1.172  |  DISEASES
5915  |  RARB  |  1.661  |  DISEASES
11186  |  RASSF1  |  1.627  |  DISEASES
51634  |  RBMX2  |  3.281  |  DISEASES
5996  |  RGS1  |  1.495  |  DISEASES
54101  |  RIPK4  |  2.075  |  DISEASES
6239  |  RREB1  |  1.68  |  DISEASES
57142  |  RTN4  |  1.227  |  DISEASES
6304  |  SATB1  |  1.232  |  DISEASES
286205  |  SCAI  |  1.445  |  DISEASES
6318  |  SERPINB4  |  2.435  |  DISEASES
23451  |  SF3B1  |  2.112  |  DISEASES
6424  |  SFRP4  |  2.041  |  DISEASES
6477  |  SIAH1  |  1.375  |  DISEASES
9058  |  SLC13A2  |  2.047  |  DISEASES
284111  |  SLC13A5  |  2.053  |  DISEASES
6622  |  SNCA  |  1.292  |  DISEASES
6657  |  SOX2  |  2.098  |  DISEASES
6696  |  SPP1  |  1.387  |  DISEASES
10388  |  SYCP2  |  2.938  |  DISEASES
23345  |  SYNE1  |  1.301  |  DISEASES
161176  |  SYNE3  |  3.154  |  DISEASES
8407  |  TAGLN2  |  3.243  |  DISEASES
6892  |  TAPBP  |  1.171  |  DISEASES
6942  |  TCF20  |  1.569  |  DISEASES
84260  |  TCHP  |  1.027  |  DISEASES
7012  |  TERC  |  1.002  |  DISEASES
200424  |  TET3  |  1.828  |  DISEASES
56649  |  TMPRSS4  |  1.546  |  DISEASES
5987  |  TRIM27  |  1.9  |  DISEASES
7204  |  TRIO  |  2.062  |  DISEASES
55503  |  TRPV6  |  1.168  |  DISEASES
117581  |  TWIST2  |  1.319  |  DISEASES
10537  |  UBD  |  1.499  |  DISEASES
7422  |  VEGFA  |  1.3  |  DISEASES
6935  |  ZEB1  |  1.178  |  DISEASES
Locus(Waiting for update.)
Disease ID 1090
Disease cervical squamous cell carcinoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:8)
HP:0002860  |  Squamous cell carcinoma  |  73
HP:0002664  |  Neoplasia  |  2
HP:0000125  |  Pelvic kidney  |  1
HP:0012531  |  Pain  |  1
HP:0002840  |  Lymphadenitis  |  1
HP:0002835  |  Aspiration  |  1
HP:0005584  |  Renal cell carcinoma  |  1
HP:0001903  |  Anemia  |  1
Disease ID 1090
Disease cervical squamous cell carcinoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C2364133  |  infection
C0950124  |  papillomavirus infection
C0850639  |  premalignant lesion
C0036527  |  ovarian metastasis
C0022572  |  keratoacanthomas
C0011633  |  dermatomyositis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0009450  |  infection  |  2
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:8)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs2229546232806213587IL10RAumls:C0279671BeFreeCervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' UTR SNP (OR=1.76, 95% CI=1.15-2.68) and two synonymous IL12RB2 SNPs (rs4297265, OR=0.46, 95% CI=0.26-0.82; rs2229546, OR=0.43, 95% CI=0.21-0.87).0.0002714422013IL12RB2167395837CA,G,T
rs30873861847062851455REV1umls:C0279671BeFreeCompared with the REV1 Phe257Ser, women carrying Ser257Ser and Phe257Ser genotypes had a significantly decreased the risk for cervical carcinoma or cervical squamous cell carcinoma.0.0002714422008REV1299439044AG
rs3181224232806213593IL12Bumls:C0279671BeFreeFinally, the minor allele of the IL12B rs3181224 3' UTR SNP was associated with a reduced risk of vulvar SCC (OR=0.30, 95% CI=0.12-0.74).0.0002714422013LOC1053776835159313842AG
rs4297265232806213587IL10RAumls:C0279671BeFreeCervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' UTR SNP (OR=1.76, 95% CI=1.15-2.68) and two synonymous IL12RB2 SNPs (rs4297265, OR=0.46, 95% CI=0.26-0.82; rs2229546, OR=0.43, 95% CI=0.21-0.87).0.0002714422013NANANANANA
rs4705343262523023845KRASumls:C0279671BeFreeThese findings indicate that miR-143/145 rs4705343 and KRAS rs712 may contribute to the etiology of CSCC in Chinese women.0.0005428842015MIR143;MIR143HG5149428518TC
rs712262523023845KRASumls:C0279671BeFreeThese findings indicate that miR-143/145 rs4705343 and KRAS rs712 may contribute to the etiology of CSCC in Chinese women.0.0005428842015KRAS1225209618AC
rs9298814124903113451IFNA17umls:C0279671BeFreeThe distribution of IFNA17 Ile184Arg genotype among SCCA cases (Ile/Ile, 21%; Arg/Ile, 57%; and Arg/Arg, 22%) was different significantly from that among NCC (Ile/Ile, 32%; Arg/Ile, 56%; and Arg/Arg, 12%) (P=0.0345).0.0002714422003IFNA17921227623AG,C
rs9610232806213587IL10RAumls:C0279671BeFreeCervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' UTR SNP (OR=1.76, 95% CI=1.15-2.68) and two synonymous IL12RB2 SNPs (rs4297265, OR=0.46, 95% CI=0.26-0.82; rs2229546, OR=0.43, 95% CI=0.21-0.87).0.0002714422013IL10RA11118001371GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
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 1090
Disease cervical squamous cell carcinoma
Case(Waiting for update.)