eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| oral cancer | ||||
| Disease ID | 1327 |
|---|---|
| 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 C0686619 | lymph node metastases | 3 C0004623 | bacterial infection | 3 C0004623 | bacterial infections | 3 C0031347 | pharyngeal cancer | 2 C0007137 | squamous cell carcinoma | 2 C0006625 | cachectic | 1 C0021390 | inflammatory bowel disease | 1 C0153382 | oropharyngeal cancer | 1 C0031090 | periodontal disease | 1 C0153340 | lip cancer | 1 C0021831 | bowel disease | 1 C0343386 | clostridium difficile infection | 1 C0023646 | lichen planus | 1 C0006142 | breast cancer | 1 C0153349 | tongue cancer | 1 C0007114 | skin cancer | 1 C0003467 | anxiety | 1 C0027030 | myiasis | 1 C1568868 | oral mucositis | 1 C0007107 | cancer of the larynx | 1 C0025362 | mental retardation | 1 C0011860 | type 2 diabetes | 1 C0023418 | leukaemia | 1 C0021390 | inflammatory bowel diseases | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:38) 595 | CCND1 | CIPHER 1026 | CDKN1A | CIPHER 1586 | CYP17A1 | CIPHER 1543 | CYP1A1 | CIPHER 1548 | CYP2A6 | CIPHER 1571 | CYP2E1 | CIPHER 2067 | ERCC1 | CIPHER 2068 | ERCC2 | CIPHER 2072 | ERCC4 | CIPHER 2944 | GSTM1 | CIPHER 2947 | GSTM3 | CIPHER 2950 | GSTP1 | CIPHER 2952 | GSTT1 | CIPHER 3162 | HMOX1 | CIPHER 3265 | HRAS | CIPHER 3481 | IGF2 | CIPHER 3482 | IGF2R | CIPHER 3673 | ITGA2 | CIPHER 4255 | MGMT | CIPHER 100507436 | MICA | CIPHER 4312 | MMP1 | CIPHER 4314 | MMP3 | CIPHER 4318 | MMP9 | CIPHER 4595 | MUTYH | CIPHER 4790 | NFKB1 | CIPHER 4521 | NUDT1 | CIPHER 4968 | OGG1 | CIPHER 5328 | PLAU | CIPHER 5054 | SERPINE1 | CIPHER 7039 | TGFA | CIPHER 7077 | TIMP2 | CIPHER 7124 | TNF | CIPHER 7157 | TP53 | CIPHER 7422 | VEGFA | CIPHER 7507 | XPA | CIPHER 7508 | XPC | CIPHER 7515 | XRCC1 | CIPHER 7517 | XRCC3 | CIPHER |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1327 |
|---|---|
| Disease | oral cancer |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:18) HP:0002664 | Neoplasia | 11 HP:0000704 | Pyorrhea | 4 HP:0002745 | Oral idiopathic leukoplakia | 4 HP:0030731 | Carcinoma | 3 HP:0000718 | Aggressive behaviour | 2 HP:0002860 | Squamous cell carcinoma | 2 HP:0001249 | Mental retardation | 2 HP:0001945 | Fever | 1 HP:0000211 | Trismus | 1 HP:0002307 | Sialorrhea | 1 HP:0000739 | Anxiety | 1 HP:0001297 | Cerebral vascular events | 1 HP:0002015 | Swallowing difficulty | 1 HP:0001903 | Anemia | 1 HP:0012118 | Cancer of the larynx | 1 HP:0003002 | Breast carcinoma | 1 HP:0006699 | Ectopic supraventricular rhythms | 1 HP:0012531 | Pain | 1 |
| Disease ID | 1327 |
|---|---|
| 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 C0030472 | paraneoplastic syndromes | 2 C1608408 | malignant transformation | 2 C0007137 | squamous cell carcinoma | 2 C0030193 | pain | 1 C1568868 | oral mucositis | 1 C0024232 | lymphatic metastasis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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 |
| rs1042522 | 22052649 | 4194 | MDM4 | umls:C0153381 | BeFree | To 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. | 0.000271442 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 14577584 | 7157 | TP53 | umls:C0153381 | BeFree | Polymorphism of the p53 codon 72 Arg/Pro and the risk of HPV type 16/18-associated cervical and oral cancer in India. | 0.029087888 | 2003 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22052649 | 7157 | TP53 | umls:C0153381 | BeFree | To 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. | 0.029087888 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22052649 | 83478 | ARHGAP24 | umls:C0153381 | BeFree | To 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. | 0.000814326 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22052649 | 4193 | MDM2 | umls:C0153381 | BeFree | To 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. | 0.001357209 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23192640 | 7157 | TP53 | umls:C0153381 | BeFree | No significant association between p53 codon 72 Arg/Pro polymorphism and risk of oral cancer. | 0.029087888 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1052133 | 25323581 | 4968 | OGG1 | umls:C0153381 | BeFree | In 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. | 0.003181358 | 2014 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1057035 | 23071822 | 23405 | DICER1 | umls:C0153381 | BeFree | These 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. | 0.000814326 | 2012 | DICER1 | 14 | 95087805 | T | C |
| rs10900598 | 22052649 | 83478 | ARHGAP24 | umls:C0153381 | BeFree | To 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. | 0.000814326 | 2012 | MDM4 | 1 | 204556440 | G | T |
| rs10900598 | 22052649 | 4194 | MDM4 | umls:C0153381 | BeFree | To 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. | 0.000271442 | 2012 | MDM4 | 1 | 204556440 | G | T |
| rs10900598 | 22052649 | 7157 | TP53 | umls:C0153381 | BeFree | To 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. | 0.029087888 | 2012 | MDM4 | 1 | 204556440 | G | T |
| rs10900598 | 22052649 | 4193 | MDM2 | umls:C0153381 | BeFree | To 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. | 0.001357209 | 2012 | MDM4 | 1 | 204556440 | G | T |
| rs1137101 | 18855010 | 3952 | LEP | umls:C0153381 | BeFree | Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral cancer. | 0.000271442 | 2009 | LEPR | 1 | 65592830 | A | G |
| rs1137101 | 18855010 | 3953 | LEPR | umls:C0153381 | BeFree | Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral cancer. | 0.000271442 | 2009 | LEPR | 1 | 65592830 | A | G |
| rs11540654 | 23192640 | 7157 | TP53 | umls:C0153381 | BeFree | No significant association between p53 codon 72 Arg/Pro polymorphism and risk of oral cancer. | 0.029087888 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22052649 | 7157 | TP53 | umls:C0153381 | BeFree | To 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. | 0.029087888 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 14577584 | 7157 | TP53 | umls:C0153381 | BeFree | Polymorphism of the p53 codon 72 Arg/Pro and the risk of HPV type 16/18-associated cervical and oral cancer in India. | 0.029087888 | 2003 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22052649 | 4194 | MDM4 | umls:C0153381 | BeFree | To 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. | 0.000271442 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22052649 | 4193 | MDM2 | umls:C0153381 | BeFree | To 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. | 0.001357209 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22052649 | 83478 | ARHGAP24 | umls:C0153381 | BeFree | To 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. | 0.000814326 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11801299 | 22052649 | 4194 | MDM4 | umls:C0153381 | BeFree | To 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. | 0.000271442 | 2012 | MDM4 | 1 | 204559956 | G | A |
| rs11801299 | 22052649 | 83478 | ARHGAP24 | umls:C0153381 | BeFree | To 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. | 0.000814326 | 2012 | MDM4 | 1 | 204559956 | G | A |
| rs11801299 | 22052649 | 7157 | TP53 | umls:C0153381 | BeFree | To 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. | 0.029087888 | 2012 | MDM4 | 1 | 204559956 | G | A |
| rs11801299 | 22052649 | 4193 | MDM2 | umls:C0153381 | BeFree | To 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. | 0.001357209 | 2012 | MDM4 | 1 | 204559956 | G | A |
| rs1229984 | 20336794 | 125 | ADH1B | umls:C0153381 | BeFree | This 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. | 0.000271442 | 2010 | ADH1B | 4 | 99318162 | T | C |
| rs13140012 | 25806809 | 5130 | PCYT1A | umls:C0153381 | BeFree | The CTA haplotype of the studied MTNR1A polymorphisms (rs2119882, rs13140012, rs6553010) was related to a higher risk of oral cancer. | 0.000271442 | 2015 | MTNR1A;LOC105377596 | 4 | 186544404 | T | A |
| rs13181 | 21741876 | 1571 | CYP2E1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.004538567 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21741876 | 2952 | GSTT1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.012258492 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21741876 | 2944 | GSTM1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.01633012 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs1380576 | 22052649 | 83478 | ARHGAP24 | umls:C0153381 | BeFree | To 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. | 0.000814326 | 2012 | MDM4 | 1 | 204519150 | G | C |
| rs1380576 | 22052649 | 7157 | TP53 | umls:C0153381 | BeFree | To 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. | 0.029087888 | 2012 | MDM4 | 1 | 204519150 | G | C |
| rs1380576 | 22052649 | 4193 | MDM2 | umls:C0153381 | BeFree | To 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. | 0.001357209 | 2012 | MDM4 | 1 | 204519150 | G | C |
| rs1380576 | 22052649 | 4194 | MDM4 | umls:C0153381 | BeFree | To 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. | 0.000271442 | 2012 | MDM4 | 1 | 204519150 | G | C |
| rs1406 | 24947332 | 5111 | PCNA | umls:C0153381 | BeFree | A 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). | 0.000814326 | 2014 | CCNE1 | 19 | 29824205 | C | A |
| rs1570360 | 22818823 | 7422 | VEGFA | umls:C0153381 | BeFree | In 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. | 0.008805692 | 2012 | VEGFA | 6 | 43770093 | A | G |
| rs1695 | 21741876 | 1571 | CYP2E1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.004538567 | 2011 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21741876 | 2952 | GSTT1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.012258492 | 2011 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 21741876 | 2944 | GSTM1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.01633012 | 2011 | GSTP1 | 11 | 67585218 | A | G |
| rs1799782 | 18410587 | 7516 | XRCC2 | umls:C0153381 | BeFree | Similarly, 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. | 0.000542884 | 2008 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 25831063 | 7515 | XRCC1 | umls:C0153381 | BeFree | Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer. | 0.006091273 | 2016 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 25831063 | 7516 | XRCC2 | umls:C0153381 | BeFree | Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer. | 0.000542884 | 2016 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 23681796 | 7515 | XRCC1 | umls:C0153381 | BeFree | XRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from a meta-analysis. | 0.006091273 | 2013 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 19713684 | 7515 | XRCC1 | umls:C0153381 | BeFree | We suggest that the Arg194Trp polymorphism in the XRCC1 gene may be a biomarker of oral cancer susceptibility among Asian population. | 0.006091273 | 2009 | XRCC1 | 19 | 43553422 | G | A |
| rs1926447 | 17636471 | 1361 | CPB2 | umls:C0153381 | BeFree | The 1040C/T polymorphism influencing thermal stability and activity of thrombin activatable fibrinolysis inhibitor is associated with risk for oral cancer. | 0.000271442 | 2007 | CPB2;CPB2-AS1 | 13 | 46055809 | A | G |
| rs2010963 | 22818823 | 7422 | VEGFA | umls:C0153381 | BeFree | In 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. | 0.008805692 | 2012 | VEGFA | 6 | 43770613 | C | G |
| rs2031920 | 21741876 | 2952 | GSTT1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.012258492 | 2011 | CYP2E1 | 10 | 133526341 | C | T |
| rs2031920 | 21741876 | 2944 | GSTM1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.01633012 | 2011 | CYP2E1 | 10 | 133526341 | C | T |
| rs2031920 | 21741876 | 1571 | CYP2E1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.004538567 | 2011 | CYP2E1 | 10 | 133526341 | C | T |
| rs2040639 | 18410587 | 7516 | XRCC2 | umls:C0153381 | BeFree | Similarly, 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. | 0.000542884 | 2008 | XRCC2 | 7 | 152678103 | T | C |
| rs2040639 | 25831063 | 7515 | XRCC1 | umls:C0153381 | BeFree | Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer. | 0.006091273 | 2016 | XRCC2 | 7 | 152678103 | T | C |
| rs2040639 | 25831063 | 7516 | XRCC2 | umls:C0153381 | BeFree | Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer. | 0.000542884 | 2016 | XRCC2 | 7 | 152678103 | T | C |
| rs2075685 | 18410587 | 7516 | XRCC2 | umls:C0153381 | BeFree | Similarly, 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. | 0.000542884 | 2008 | XRCC4;TMEM167A | 5 | 83076846 | G | T |
| rs2119882 | 25806809 | 5130 | PCYT1A | umls:C0153381 | BeFree | The CTA haplotype of the studied MTNR1A polymorphisms (rs2119882, rs13140012, rs6553010) was related to a higher risk of oral cancer. | 0.000271442 | 2015 | MTNR1A | 4 | 186555751 | T | C |
| rs221236 | 25503985 | 389421 | LIN28B | umls:C0153381 | BeFree | These findings indicated that rs221236 located at Lin28B may contribute to the risk of oral cavity cancer through the interruption of miRNA binding. | 0.000542884 | 2014 | NA | 7 | 157529938 | G | A |
| rs2243250 | 23572437 | 3565 | IL4 | umls:C0153381 | BeFree | Taken 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. | 0.001357209 | 2013 | IL4 | 5 | 132673462 | C | T |
| rs3025039 | 22818823 | 7422 | VEGFA | umls:C0153381 | BeFree | In 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. | 0.008805692 | 2012 | VEGFA | 6 | 43784799 | C | T |
| rs3092904 | 24947332 | 5111 | PCNA | umls:C0153381 | BeFree | A 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). | 0.000814326 | 2014 | RB1 | 13 | 48477345 | T | A |
| rs3093816 | 24947332 | 5111 | PCNA | umls:C0153381 | BeFree | A 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). | 0.000814326 | 2014 | CCNH | 5 | 87401570 | A | G |
| rs3217901 | 24947332 | 5111 | PCNA | umls:C0153381 | BeFree | A 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). | 0.000814326 | 2014 | CCND2 | 12 | 4296223 | A | G |
| rs34329 | 24947332 | 5715 | PSMD9 | umls:C0153381 | BeFree | Six 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). | 0.001085767 | 2014 | CDKN1B | 12 | 12720299 | G | C |
| rs3813867 | 21741876 | 1571 | CYP2E1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.004538567 | 2011 | CYP2E1 | 10 | 133526101 | G | C |
| rs3813867 | 21741876 | 2952 | GSTT1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.012258492 | 2011 | CYP2E1 | 10 | 133526101 | G | C |
| rs3813867 | 21741876 | 2944 | GSTM1 | umls:C0153381 | BeFree | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, rs2031920, rs3813867 (CYP2E1), and rs13181 were associated with OC. | 0.01633012 | 2011 | CYP2E1 | 10 | 133526101 | G | C |
| rs386545546 | 23681796 | 7515 | XRCC1 | umls:C0153381 | BeFree | XRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from a meta-analysis. | 0.006091273 | 2013 | NA | NA | NA | NA | NA |
| rs386545546 | 19713684 | 7515 | XRCC1 | umls:C0153381 | BeFree | We suggest that the Arg194Trp polymorphism in the XRCC1 gene may be a biomarker of oral cancer susceptibility among Asian population. | 0.006091273 | 2009 | NA | NA | NA | NA | NA |
| rs5743312 | 23796347 | 7098 | TLR3 | umls:C0153381 | BeFree | TLR3 rs5743312 polymorphism could be considered as potential predictor of worse overall survival in advanced oral cancer, but not independently of nodal status. | 0.000271442 | 2013 | TLR3 | 4 | 186079102 | C | T |
| rs629849 | 21347719 | 3482 | IGF2R | umls:C0153381 | BeFree | Association between Gly1619ARG polymorphism of IGF2R domain 11 (rs629849) and advanced stage of oral cancer. | 0.002909916 | 2012 | IGF2R | 6 | 160073377 | A | C,G,T |
| rs647451 | 24947332 | 5111 | PCNA | umls:C0153381 | BeFree | A 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). | 0.000814326 | 2014 | CCND1 | 11 | 69646963 | C | T |
| rs6553010 | 25806809 | 5130 | PCYT1A | umls:C0153381 | BeFree | The CTA haplotype of the studied MTNR1A polymorphisms (rs2119882, rs13140012, rs6553010) was related to a higher risk of oral cancer. | 0.000271442 | 2015 | MTNR1A;LOC105377596 | 4 | 186535189 | G | A |
| rs699947 | 22818823 | 7422 | VEGFA | umls:C0153381 | BeFree | In 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. | 0.008805692 | 2012 | VEGFA | 6 | 43768652 | A | C |
| rs861539 | 18410587 | 7516 | XRCC2 | umls:C0153381 | BeFree | Similarly, 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. | 0.000542884 | 2008 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs991316 | 22662130 | 551 | AVP | umls:C0153381 | BeFree | In 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)). | 0.000271442 | 2012 | LOC102723576 | 4 | 99401288 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1327 |
|---|---|
| Disease | oral cancer |
| Case | (Waiting for update.) |