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Pediatric Disease Annotations & Medicines



   oral cancer
  

Disease ID 772
Disease oral cancer
Definition
A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.
Synonym
ca - mouth cancer
cancer of mouth
cancer of oral cavity
cancer of the mouth
cancer, mouth
cancer, oral
cancers, mouth
cancers, oral
malig neoplasm mouth nos
malignant mouth neoplasm
malignant mouth tumor
malignant neoplasm of mouth
malignant neoplasm of mouth nos
malignant neoplasm of mouth nos (disorder)
malignant neoplasm of mouth, nos
malignant neoplasm of mouth, unspecified
malignant neoplasm of oral cavity nos
malignant neoplasm of the mouth
malignant oral cavity neoplasm
malignant oral cavity tumor
malignant oral neoplasm
malignant tumor of mouth
malignant tumor of oral cavity
malignant tumor of oral cavity (disorder)
malignant tumor of the mouth
malignant tumour of mouth
malignant tumour of oral cavity
mouth cancer
mouth cancers
mouth--cancer
oral cancers
DOID
ICD10
UMLS
C0153381
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:25)
C0031099  |  periodontitis  |  4
C0031347  |  pharyngeal cancer  |  3
C0004623  |  bacterial infection  |  3
C0004623  |  bacterial infections  |  3
C0686619  |  lymph node metastases  |  3
C0007137  |  squamous cell carcinoma  |  2
C0002871  |  anemia  |  1
C1568868  |  oral mucositis  |  1
C0031090  |  periodontal disease  |  1
C0153340  |  lip cancer  |  1
C0025235  |  melkersson-rosenthal syndrome  |  1
C0006142  |  breast cancer  |  1
C0021390  |  inflammatory bowel diseases  |  1
C0343386  |  clostridium difficile infection  |  1
C0023646  |  lichen planus  |  1
C0153382  |  oropharyngeal cancer  |  1
C0007114  |  skin cancer  |  1
C0007107  |  cancer of the larynx  |  1
C0027030  |  myiasis  |  1
C0003467  |  anxiety  |  1
C0025362  |  mental retardation  |  1
C0021390  |  inflammatory bowel disease  |  1
C0021831  |  bowel disease  |  1
C0039128  |  syphilis  |  1
C0011860  |  type 2 diabetes  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:38)
595  |  CCND1  |  infer
1026  |  CDKN1A  |  infer
1586  |  CYP17A1  |  infer
1543  |  CYP1A1  |  infer
1548  |  CYP2A6  |  infer
1571  |  CYP2E1  |  infer
2067  |  ERCC1  |  infer
2068  |  ERCC2  |  infer
2072  |  ERCC4  |  infer
2944  |  GSTM1  |  infer
2947  |  GSTM3  |  infer
2950  |  GSTP1  |  infer
2952  |  GSTT1  |  infer
3162  |  HMOX1  |  infer
3265  |  HRAS  |  infer
3481  |  IGF2  |  infer
3482  |  IGF2R  |  infer
3673  |  ITGA2  |  infer
4255  |  MGMT  |  infer
100507436  |  MICA  |  infer
4312  |  MMP1  |  infer
4314  |  MMP3  |  infer
4318  |  MMP9  |  infer
4595  |  MUTYH  |  infer
4790  |  NFKB1  |  infer
4521  |  NUDT1  |  infer
4968  |  OGG1  |  infer
5328  |  PLAU  |  infer
5054  |  SERPINE1  |  infer
7039  |  TGFA  |  infer
7077  |  TIMP2  |  infer
7124  |  TNF  |  infer
7157  |  TP53  |  infer
7422  |  VEGFA  |  infer
7507  |  XPA  |  infer
7508  |  XPC  |  infer
7515  |  XRCC1  |  infer
7517  |  XRCC3  |  infer
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 772
Disease oral cancer
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:20)
HP:0002664  |  Neoplasia  |  11
HP:0002745  |  Oral idiopathic leukoplakia  |  4
HP:0000704  |  Pyorrhea  |  4
HP:0030731  |  Carcinoma  |  3
HP:0002015  |  Swallowing difficulty  |  2
HP:0002860  |  Squamous cell carcinoma  |  2
HP:0000718  |  Aggressive behaviour  |  2
HP:0001249  |  Mental retardation  |  2
HP:0006699  |  Ectopic supraventricular rhythms  |  1
HP:0001903  |  Anemia  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0012531  |  Pain  |  1
HP:0000739  |  Anxiety  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0001945  |  Fever  |  1
HP:0002307  |  Sialorrhea  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0001824  |  Weight loss  |  1
HP:0000211  |  Trismus  |  1
HP:0012118  |  Cancer of the larynx  |  1
Disease ID 772
Disease oral cancer
Manually Symptom
UMLS  | Name(Total Manually Symptoms:22)
C2598155  |  pain
C2364133  |  infection
C1623038  |  cirrhosis
C1608408  |  malignant transformation
C1568868  |  oral mucositis
C1373218  |  immunosuppression
C0686619  |  lymph node metastases
C0558385  |  neck disease
C0497156  |  lymphadenopathy
C0392678  |  swallowing impairment
C0085077  |  sweet's syndrome
C0043352  |  xerostomia
C0041327  |  pulmonary tuberculosis
C0037140  |  b virus infection
C0030472  |  paraneoplastic syndromes
C0027947  |  neutropenia
C0024232  |  lymphatic metastasis
C0020437  |  hypercalcemia
C0015970  |  fever of unknown origin
C0007137  |  squamous cell carcinoma
C0006840  |  candidosis
C0002871  |  anaemia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:8)
C0009450  |  infection  |  6
C0686619  |  lymph node metastases  |  3
C1608408  |  malignant transformation  |  2
C0030472  |  paraneoplastic syndromes  |  2
C0007137  |  squamous cell carcinoma  |  2
C1568868  |  oral mucositis  |  1
C0024232  |  lymphatic metastasis  |  1
C0030193  |  pain  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:72)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1042522220526494194MDM4umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0002714422012TP53177676154GT,C
rs1042522145775847157TP53umls:C0153381BeFreePolymorphism of the p53 codon 72 Arg/Pro and the risk of HPV type 16/18-associated cervical and oral cancer in India.0.0290878882003TP53177676154GT,C
rs1042522220526497157TP53umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0290878882012TP53177676154GT,C
rs10425222205264983478ARHGAP24umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0008143262012TP53177676154GT,C
rs1042522220526494193MDM2umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0013572092012TP53177676154GT,C
rs1042522231926407157TP53umls:C0153381BeFreeNo significant association between p53 codon 72 Arg/Pro polymorphism and risk of oral cancer.0.0290878882013TP53177676154GT,C
rs1052133253235814968OGG1umls:C0153381BeFreeIn subgroup analyses by cancer types, we found that the hOGG1 Ser326Cys polymorphism may increase hepatocellular cancer and colorectal cancer risks, but decrease the risk of oral cancer.0.0031813582014OGG1;CAMK139757089CG
rs10570352307182223405DICER1umls:C0153381BeFreeThese findings indicated that rs1057035 located at 3'UTR of DICER may contribute to the risk of oral cancer by affecting the binding of miRNAs to DICER.0.0008143262012DICER11495087805TC
rs109005982205264983478ARHGAP24umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0008143262012MDM41204556440GT
rs10900598220526494194MDM4umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0002714422012MDM41204556440GT
rs10900598220526497157TP53umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0290878882012MDM41204556440GT
rs10900598220526494193MDM2umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0013572092012MDM41204556440GT
rs1137101188550103952LEPumls:C0153381BeFreeAssociation of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral cancer.0.0002714422009LEPR165592830AG
rs1137101188550103953LEPRumls:C0153381BeFreeAssociation of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral cancer.0.0002714422009LEPR165592830AG
rs11540654231926407157TP53umls:C0153381BeFreeNo significant association between p53 codon 72 Arg/Pro polymorphism and risk of oral cancer.0.0290878882013TP53177676040CT,G,A
rs11540654220526497157TP53umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0290878882012TP53177676040CT,G,A
rs11540654145775847157TP53umls:C0153381BeFreePolymorphism of the p53 codon 72 Arg/Pro and the risk of HPV type 16/18-associated cervical and oral cancer in India.0.0290878882003TP53177676040CT,G,A
rs11540654220526494194MDM4umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0002714422012TP53177676040CT,G,A
rs11540654220526494193MDM2umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0013572092012TP53177676040CT,G,A
rs115406542205264983478ARHGAP24umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0008143262012TP53177676040CT,G,A
rs11801299220526494194MDM4umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0002714422012MDM41204559956GA
rs118012992205264983478ARHGAP24umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0008143262012MDM41204559956GA
rs11801299220526497157TP53umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0290878882012MDM41204559956GA
rs11801299220526494193MDM2umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0013572092012MDM41204559956GA
rs122998420336794125ADH1Bumls:C0153381BeFreeThis association was also evident in subgroups of older patients (aged >57 years), men, former smokers, patients with oral cancer, and patients with N) lymph node status (P < .05 for all); however, such associations were not observed for the ADH1B R48H SNP.0.0002714422010ADH1B499318162TC
rs13140012258068095130PCYT1Aumls:C0153381BeFreeThe CTA haplotype of the studied MTNR1A polymorphisms (rs2119882, rs13140012, rs6553010) was related to a higher risk of oral cancer.0.0002714422015MTNR1A;LOC1053775964186544404TA
rs13181217418761571CYP2E1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.0045385672011ERCC2;KLC31945351661TA,G
rs13181217418762952GSTT1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.0122584922011ERCC2;KLC31945351661TA,G
rs13181217418762944GSTM1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.016330122011ERCC2;KLC31945351661TA,G
rs13805762205264983478ARHGAP24umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0008143262012MDM41204519150GC
rs1380576220526497157TP53umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0290878882012MDM41204519150GC
rs1380576220526494193MDM2umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0013572092012MDM41204519150GC
rs1380576220526494194MDM4umls:C0153381BeFreeTo explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls.0.0002714422012MDM41204519150GC
rs1406249473325111PCNAumls:C0153381BeFreeA significant risk of oral cancer was also evident for individual polymorphisms of cyclin E (rs1406), cyclin H (rs3093816), cyclin D1-1 (rs647451), cyclin D2 (rs3217901) and Rb1-2 (rs3092904).0.0008143262014CCNE11929824205CA
rs1570360228188237422VEGFAumls:C0153381BeFreeIn this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A), rs1570360 (-1154G/A), rs2010963 (-634G/C), rs3025039 (+936C/T) or their haplotypes are associated with an oral cancer risk and survival.0.0088056922012VEGFA643770093AG
rs1695217418761571CYP2E1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.0045385672011GSTP11167585218AG
rs1695217418762952GSTT1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.0122584922011GSTP11167585218AG
rs1695217418762944GSTM1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.016330122011GSTP11167585218AG
rs1799782184105877516XRCC2umls:C0153381BeFreeSimilarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs861539-rs2075685-rs1799782 (XRCCs 1-4) with specific genotype pattern (AG-CC-TG and CT-AG-CC-TG) among three and four combinational SNPs were significantly associated with oral cancer.0.0005428842008XRCC11943553422GA
rs1799782258310637515XRCC1umls:C0153381BeFreeTaken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer.0.0060912732016XRCC11943553422GA
rs1799782258310637516XRCC2umls:C0153381BeFreeTaken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer.0.0005428842016XRCC11943553422GA
rs1799782236817967515XRCC1umls:C0153381BeFreeXRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from a meta-analysis.0.0060912732013XRCC11943553422GA
rs1799782197136847515XRCC1umls:C0153381BeFreeWe suggest that the Arg194Trp polymorphism in the XRCC1 gene may be a biomarker of oral cancer susceptibility among Asian population.0.0060912732009XRCC11943553422GA
rs1926447176364711361CPB2umls:C0153381BeFreeThe 1040C/T polymorphism influencing thermal stability and activity of thrombin activatable fibrinolysis inhibitor is associated with risk for oral cancer.0.0002714422007CPB2;CPB2-AS11346055809AG
rs2010963228188237422VEGFAumls:C0153381BeFreeIn this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A), rs1570360 (-1154G/A), rs2010963 (-634G/C), rs3025039 (+936C/T) or their haplotypes are associated with an oral cancer risk and survival.0.0088056922012VEGFA643770613CG
rs2031920217418762952GSTT1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.0122584922011CYP2E110133526341CT
rs2031920217418762944GSTM1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.016330122011CYP2E110133526341CT
rs2031920217418761571CYP2E1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.0045385672011CYP2E110133526341CT
rs2040639184105877516XRCC2umls:C0153381BeFreeSimilarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs861539-rs2075685-rs1799782 (XRCCs 1-4) with specific genotype pattern (AG-CC-TG and CT-AG-CC-TG) among three and four combinational SNPs were significantly associated with oral cancer.0.0005428842008XRCC27152678103TC
rs2040639258310637515XRCC1umls:C0153381BeFreeTaken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer.0.0060912732016XRCC27152678103TC
rs2040639258310637516XRCC2umls:C0153381BeFreeTaken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer.0.0005428842016XRCC27152678103TC
rs2075685184105877516XRCC2umls:C0153381BeFreeSimilarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs861539-rs2075685-rs1799782 (XRCCs 1-4) with specific genotype pattern (AG-CC-TG and CT-AG-CC-TG) among three and four combinational SNPs were significantly associated with oral cancer.0.0005428842008XRCC4;TMEM167A583076846GT
rs2119882258068095130PCYT1Aumls:C0153381BeFreeThe CTA haplotype of the studied MTNR1A polymorphisms (rs2119882, rs13140012, rs6553010) was related to a higher risk of oral cancer.0.0002714422015MTNR1A4186555751TC
rs22123625503985389421LIN28Bumls:C0153381BeFreeThese findings indicated that rs221236 located at Lin28B may contribute to the risk of oral cavity cancer through the interruption of miRNA binding.0.0005428842014NA7157529938GA
rs2243250235724373565IL4umls:C0153381BeFreeTaken together, our results indicated that IL-4 rs2243250 polymorphism was associated with decreased oral cancer risk in both the homozygote contrasts and the dominant genetic model, as well as increased renal cell cancer risk in both the homozygote contrasts and the recessive genetic model.0.0013572092013IL45132673462CT
rs3025039228188237422VEGFAumls:C0153381BeFreeIn this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A), rs1570360 (-1154G/A), rs2010963 (-634G/C), rs3025039 (+936C/T) or their haplotypes are associated with an oral cancer risk and survival.0.0088056922012VEGFA643784799CT
rs3092904249473325111PCNAumls:C0153381BeFreeA significant risk of oral cancer was also evident for individual polymorphisms of cyclin E (rs1406), cyclin H (rs3093816), cyclin D1-1 (rs647451), cyclin D2 (rs3217901) and Rb1-2 (rs3092904).0.0008143262014RB11348477345TA
rs3093816249473325111PCNAumls:C0153381BeFreeA significant risk of oral cancer was also evident for individual polymorphisms of cyclin E (rs1406), cyclin H (rs3093816), cyclin D1-1 (rs647451), cyclin D2 (rs3217901) and Rb1-2 (rs3092904).0.0008143262014CCNH587401570AG
rs3217901249473325111PCNAumls:C0153381BeFreeA significant risk of oral cancer was also evident for individual polymorphisms of cyclin E (rs1406), cyclin H (rs3093816), cyclin D1-1 (rs647451), cyclin D2 (rs3217901) and Rb1-2 (rs3092904).0.0008143262014CCND2124296223AG
rs34329249473325715PSMD9umls:C0153381BeFreeSix of 9 single nucleotide polymorphisms in the cell cycle showed significant risks for oral cancer, the highest risk being evident for p27 (rs34329; Odds ratio 3.05, 95% CI 2.12 to 4.40).0.0010857672014CDKN1B1212720299GC
rs3813867217418761571CYP2E1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.0045385672011CYP2E110133526101GC
rs3813867217418762952GSTT1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.0122584922011CYP2E110133526101GC
rs3813867217418762944GSTM1umls:C0153381BeFreeGSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC.0.016330122011CYP2E110133526101GC
rs386545546236817967515XRCC1umls:C0153381BeFreeXRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from a meta-analysis.0.0060912732013NANANANANA
rs386545546197136847515XRCC1umls:C0153381BeFreeWe suggest that the Arg194Trp polymorphism in the XRCC1 gene may be a biomarker of oral cancer susceptibility among Asian population.0.0060912732009NANANANANA
rs5743312237963477098TLR3umls:C0153381BeFreeTLR3 rs5743312 polymorphism could be considered as potential predictor of worse overall survival in advanced oral cancer, but not independently of nodal status.0.0002714422013TLR34186079102CT
rs629849213477193482IGF2Rumls:C0153381BeFreeAssociation between Gly1619ARG polymorphism of IGF2R domain 11 (rs629849) and advanced stage of oral cancer.0.0029099162012IGF2R6160073377AC,G,T
rs647451249473325111PCNAumls:C0153381BeFreeA significant risk of oral cancer was also evident for individual polymorphisms of cyclin E (rs1406), cyclin H (rs3093816), cyclin D1-1 (rs647451), cyclin D2 (rs3217901) and Rb1-2 (rs3092904).0.0008143262014CCND11169646963CT
rs6553010258068095130PCYT1Aumls:C0153381BeFreeThe CTA haplotype of the studied MTNR1A polymorphisms (rs2119882, rs13140012, rs6553010) was related to a higher risk of oral cancer.0.0002714422015MTNR1A;LOC1053775964186535189GA
rs699947228188237422VEGFAumls:C0153381BeFreeIn this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A), rs1570360 (-1154G/A), rs2010963 (-634G/C), rs3025039 (+936C/T) or their haplotypes are associated with an oral cancer risk and survival.0.0088056922012VEGFA643768652AC
rs861539184105877516XRCC2umls:C0153381BeFreeSimilarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs861539-rs2075685-rs1799782 (XRCCs 1-4) with specific genotype pattern (AG-CC-TG and CT-AG-CC-TG) among three and four combinational SNPs were significantly associated with oral cancer.0.0005428842008KLC1;XRCC314103699416GA
rs99131622662130551AVPumls:C0153381BeFreeIn the oral cancer GWAS, we sought to replicate the top five SNPs as ranked by AdAPT BFDPs, of which rs991316, located in the ADH gene region of 4q23, displayed a statistically significant association with oral cancer risk in the replication phase (per-rare-allele log additive p-value [p(trend)] = 2.5×10(-3)).0.0002714422012LOC102723576499401288TC
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