eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| squamous cell carcinoma of esophagus | ||||
| Disease ID | 824 |
|---|---|
| Disease | squamous cell carcinoma of esophagus |
| Definition | A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor. |
| Synonym | carcinoma cell esophagus squamous escc esophageal cancer, squamous cell esophageal epidermoid carcinoma esophageal scc esophageal squamous cell carcinoma esophagus cancer, squamous cell esophagus scc esophagus squamous cell carcinoma scc - squamous cell carcinoma of esophagus scc - squamous cell carcinoma of oesophagus scc of esophagus scc of the esophagus squamous cell car. - esophagus squamous cell carcinoma of esophagus (disorder) squamous cell carcinoma of oesophagus squamous cell carcinoma of the esophagus squamous cell esophageal cancer squamous cell esophagus cancer |
| Orphanet | |
| DOID | |
| UMLS | C0279626 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:34) C0279626 | squamous cell carcinoma of the esophagus | 25 C0007137 | squamous cell carcinoma | 24 C0686619 | lymph node metastases | 4 C0014848 | achalasia | 3 C0334246 | metastatic squamous cell carcinoma | 2 C0346976 | pancreatic metastasis | 2 C0001418 | adenocarcinoma | 2 C0014859 | esophageal tumor | 1 C0006142 | breast cancer | 1 C0007847 | cervical cancer | 1 C0155765 | microangiopathy | 1 C0302592 | cervical ca | 1 C0699791 | carcinoma of the stomach | 1 C0007570 | celiac disease | 1 C0002726 | amyloidosis | 1 C0030354 | papilloma | 1 C0278701 | adenocarcinoma of the stomach | 1 C0002871 | anemia | 1 C0153687 | skin metastasis | 1 C0028754 | obesity | 1 C0014868 | esophagitis | 1 C0030807 | pemphigus | 1 C0017154 | gastric atrophy | 1 C0268397 | cutaneous amyloidosis | 1 C0042769 | virus infection | 1 C0014859 | esophageal tumors | 1 C0279628 | esophageal adenocarcinoma | 1 C0012736 | dissecting aneurysm of aorta | 1 C0014859 | esophageal cancer | 1 C0031347 | pharyngeal cancer | 1 C0007104 | carcinoma of the breast | 1 C0017152 | gastritis | 1 C0017154 | atrophic gastritis | 1 C0015625 | fanconi anemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:85) 861 | RUNX1 | GWASCAT 595 | CCND1 | CTD_human 1192 | CLIC1 | CTD_human 5925 | RB1 | CTD_human 2952 | GSTT1 | CTD_human 100048912 | CDKN2B-AS1 | GWASCAT 1244 | ABCC2 | CTD_human 58508 | KMT2C | CTD_human 1956 | EGFR | CTD_human 7157 | TP53 | CTD_human 51741 | WWOX | CTD_human 7169 | TPM2 | CTD_human 4255 | MGMT | CTD_human 3146 | HMGB1 | CTD_human 1387 | CREBBP | CTD_human 9446 | GSTO1 | CTD_human 4853 | NOTCH2 | CTD_human 1029 | CDKN2A | CTD_human 340061 | TMEM173 | CTD_human;GWASCAT 6648 | SOD2 | CTD_human 4854 | NOTCH3 | CTD_human 7403 | KDM6A | CTD_human 4851 | NOTCH1 | CTD_human 567 | B2M | CTD_human 3091 | HIF1A | CTD_human 2033 | EP300 | CTD_human 2195 | FAT1 | CTD_human 8085 | KMT2D | CTD_human 7168 | TPM1 | CTD_human 1476 | CSTB | CTD_human 2739 | GLO1 | CTD_human 6657 | SOX2 | CTD_human 701 | BUB1B | CTD_human 5743 | PTGS2 | CTD_human 4085 | MAD2L1 | CTD_human 1026 | CDKN1A | CTD_human 3309 | HSPA5 | CTD_human 3860 | KRT13 | CTD_human 7515 | XRCC1 | CTD_human 2665 | GDI2 | CTD_human 482 | ATP1B2 | CTD_human;GWASCAT 2196 | FAT2 | CTD_human 120114 | FAT3 | CTD_human 79633 | FAT4 | CTD_human 130540 | ALS2CR12 | GWASCAT 55294 | FBXW7 | CTD_human 113278 | SLC52A3 | CTD_human 1548 | CYP2A6 | CTD_human 5144 | PDE4D | GWASCAT 6876 | TAGLN | CTD_human 645 | BLVRB | CTD_human 6317 | SERPINB3 | CTD_human 494335 | MIR423 | CTD_human 406999 | MIR217 | CTD_human 25816 | TNFAIP8 | CTD_human 4017 | LOXL2 | CTD_human 1381 | CRABP1 | CTD_human 3872 | KRT17 | CTD_human 7167 | TPI1 | CTD_human 1890 | TYMP | CTD_human 811 | CALR | CTD_human 4780 | NFE2L2 | CTD_human 84817 | TXNDC17 | CTD_human 760 | CA2 | CTD_human 3861 | KRT14 | CTD_human 378938 | MALAT1 | CTD_human 217 | ALDH2 | CTD_human 51196 | PLCE1 | CTD_human;GWASCAT 7494 | XBP1 | GWASCAT 759 | CA1 | CTD_human 5052 | PRDX1 | CTD_human 301 | ANXA1 | CTD_human 25800 | SLC39A6 | CTD_human 5216 | PFN1 | CTD_human 125 | ADH1B | CTD_human 116 | ADCYAP1 | CTD_human 1072 | CFL1 | CTD_human 829 | CAPZA1 | CTD_human 3880 | KRT19 | CTD_human 2810 | SFN | CTD_human 84962 | AJUBA | CTD_human 2280 | FKBP1A | CTD_human 5721 | PSME2 | CTD_human 5720 | PSME1 | CTD_human 8342 | HIST1H2BM | CTD_human |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:81) 1029 | CDKN2A | CIPHER;CTD_human 1728 | NQO1 | CIPHER 7157 | TP53 | CIPHER;CTD_human 1192 | CLIC1 | CTD_human 7169 | TPM2 | CTD_human 3146 | HMGB1 | CTD_human 9446 | GSTO1 | CTD_human 2033 | EP300 | CTD_human 2739 | GLO1 | CTD_human 51741 | WWOX | CTD_human 4085 | MAD2L1 | CTD_human 2665 | GDI2 | CTD_human 482 | ATP1B2 | CTD_human 2195 | FAT1 | CTD_human 2196 | FAT2 | CTD_human 120114 | FAT3 | CTD_human 8085 | KMT2D | CTD_human 58508 | KMT2C | CTD_human 79633 | FAT4 | CTD_human 3091 | HIF1A | CTD_human 1026 | CDKN1A | CTD_human 113278 | SLC52A3 | CTD_human 6876 | TAGLN | CTD_human 5743 | PTGS2 | CTD_human 645 | BLVRB | CTD_human 6317 | SERPINB3 | CTD_human 494335 | MIR423 | CTD_human 406999 | MIR217 | CTD_human 7168 | TPM1 | CTD_human 4017 | LOXL2 | CTD_human 1381 | CRABP1 | CTD_human 6657 | SOX2 | CTD_human 340061 | TMEM173 | CTD_human 4255 | MGMT | CTD_human 7515 | XRCC1 | CTD_human 84817 | TXNDC17 | CTD_human 1476 | CSTB | CTD_human 595 | CCND1 | CTD_human 701 | BUB1B | CTD_human 1548 | CYP2A6 | CTD_human 51196 | PLCE1 | CTD_human 811 | CALR | CTD_human 1956 | EGFR | CTD_human 760 | CA2 | CTD_human 759 | CA1 | CTD_human 5925 | RB1 | CTD_human 301 | ANXA1 | CTD_human 25800 | SLC39A6 | CTD_human 4780 | NFE2L2 | CTD_human 1244 | ABCC2 | CTD_human 125 | ADH1B | CTD_human 378938 | MALAT1 | CTD_human 5216 | PFN1 | CTD_human 116 | ADCYAP1 | CTD_human 1072 | CFL1 | CTD_human 7403 | KDM6A | CTD_human 55294 | FBXW7 | CTD_human 4854 | NOTCH3 | CTD_human 4853 | NOTCH2 | CTD_human 4851 | NOTCH1 | CTD_human 3309 | HSPA5 | CTD_human 567 | B2M | CTD_human 829 | CAPZA1 | CTD_human 3860 | KRT13 | CTD_human 3872 | KRT17 | CTD_human 3861 | KRT14 | CTD_human 3880 | KRT19 | CTD_human 1890 | TYMP | CTD_human 6648 | SOD2 | CTD_human 2952 | GSTT1 | CTD_human 84962 | AJUBA | CTD_human 217 | ALDH2 | CTD_human 25816 | TNFAIP8 | CTD_human 2280 | FKBP1A | CTD_human 2810 | SFN | CTD_human 5052 | PRDX1 | CTD_human 7167 | TPI1 | CTD_human 5721 | PSME2 | CTD_human 5720 | PSME1 | CTD_human 1387 | CREBBP | CTD_human 8342 | HIST1H2BM | CTD_human |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:25) 1646 | AKR1C2 | 2.072 | DISEASES 912 | CD1D | 1.415 | DISEASES 1499 | CTNNB1 | 1.581 | DISEASES 51339 | DACT1 | 1.545 | DISEASES 29940 | DSE | 2.237 | DISEASES 1977 | EIF4E | 1.599 | DISEASES 2272 | FHIT | 1.44 | DISEASES 2996 | GYPE | 2.239 | DISEASES 54556 | ING3 | 2.3 | DISEASES 5650 | KLK7 | 4.251 | DISEASES 4065 | LY75 | 2.486 | DISEASES 4831 | NME2 | 1.494 | DISEASES 8650 | NUMB | 2.163 | DISEASES 5155 | PDGFB | 1.194 | DISEASES 5743 | PTGS2 | 1.011 | DISEASES 6158 | RPL28 | 3.418 | DISEASES 6129 | RPL7 | 3.307 | DISEASES 864 | RUNX3 | 1.582 | DISEASES 6275 | S100A4 | 1.484 | DISEASES 388228 | SBK1 | 3.779 | DISEASES 23583 | SMUG1 | 1.481 | DISEASES 6817 | SULT1A1 | 2.188 | DISEASES 6799 | SULT1A2 | 3.178 | DISEASES 7169 | TPM2 | 2.574 | DISEASES 51741 | WWOX | 4.618 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 824 |
|---|---|
| Disease | squamous cell carcinoma of esophagus |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0009450 | infection | 4 C0686619 | lymph node metastases | 3 C0021344 | human papilloma virus | 2 C0031347 | pharyngeal cancer | 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:166) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10052657 | 25129146 | 5144 | PDE4D | umls:C0279626 | GWASCAT | Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. | 0.12 | 2014 | PDE4D | 5 | 59111944 | C | A |
| rs1035142 | 24464182 | 841 | CASP8 | umls:C0279626 | BeFree | These findings indicated that the functional polymorphism CASP8 rs1035142 G>T might contribute to ESCC susceptibility. | 0.000814326 | 2014 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1042522 | 20389250 | 7157 | TP53 | umls:C0279626 | BeFree | Pro variant of TP53 Arg72Pro contributes to esophageal squamous cell carcinoma risk: evidence from a meta-analysis. | 0.2302496 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 12670525 | 7157 | TP53 | umls:C0279626 | BeFree | We used SSCP and DNA sequencing to assess and compare frequencies of R72P (TP53) and 5'UTR203G>A, N372H, and K1132K (BRCA2) polymorphisms in healthy Chinese subjects at varying risk for esophageal squamous cell carcinoma (ESCC) and in ESCC patients. | 0.2302496 | 2003 | TP53 | 17 | 7676154 | G | T,C |
| rs1051740 | 14669306 | 2052 | EPHX1 | umls:C0279626 | BeFree | MEH Tyr113His polymorphism may not be used as a stratification marker in screening individuals at a high risk of ESCC. | 0.001357209 | 2003 | EPHX1 | 1 | 225831932 | T | C |
| rs1052133 | 24022861 | 4968 | OGG1 | umls:C0279626 | BeFree | NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246215 and rs174538 were genotyped in 187 patients with ESCC who received definitive radiotherapy with or without chemotherapy. | 0.001085767 | 2013 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 23762419 | 4968 | OGG1 | umls:C0279626 | BeFree | A meta-analysis of the association between the hOGG1 Ser326Cys polymorphism and the risk of esophageal squamous cell carcinoma. | 0.001085767 | 2013 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1062935 | 23524405 | 64223 | MLST8 | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | RPTOR | 17 | 80966057 | T | C |
| rs1062935 | 23524405 | 57521 | RPTOR | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | RPTOR | 17 | 80966057 | T | C |
| rs11066280 | 25661349 | 283450 | HECTD4 | umls:C0279626 | BeFree | Recent genome-wide association study (GWAS) on esophageal squamous-cell carcinoma (ESCC) among Chinese population has identified two novel single nucleotide polymorphisms (SNPs) rs11066280 and rs2074356 on C12orf51 gene. | 0.000271442 | 2014 | HECTD4 | 12 | 112379979 | T | A |
| rs1136410 | 15205355 | 142 | PARP1 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000542884 | 2004 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 15205355 | 3980 | LIG3 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000271442 | 2004 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 15205355 | 121227 | LRIG3 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000271442 | 2004 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 15205355 | 8930 | MBD4 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000542884 | 2004 | PARP1 | 1 | 226367601 | A | G |
| rs1136410 | 15205355 | 7515 | XRCC1 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.122714419 | 2004 | PARP1 | 1 | 226367601 | A | G |
| rs11540654 | 12670525 | 7157 | TP53 | umls:C0279626 | BeFree | We used SSCP and DNA sequencing to assess and compare frequencies of R72P (TP53) and 5'UTR203G>A, N372H, and K1132K (BRCA2) polymorphisms in healthy Chinese subjects at varying risk for esophageal squamous cell carcinoma (ESCC) and in ESCC patients. | 0.2302496 | 2003 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20389250 | 7157 | TP53 | umls:C0279626 | BeFree | Pro variant of TP53 Arg72Pro contributes to esophageal squamous cell carcinoma risk: evidence from a meta-analysis. | 0.2302496 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11571833 | 21279724 | 675 | BRCA2 | umls:C0279626 | BeFree | The p. Lys3326X mutation in BRCA2 (also known as Fanconi anemia gene FANCD1) was present in 27 of 746 ESCC cases and in 16 of 1,373 controls (OR = 3.38, 95% CI = 1.97-6.91, P = 0.0002). | 0.001628651 | 2011 | BRCA2 | 13 | 32398489 | A | T |
| rs11614913 | 24916311 | 50628 | GEMIN4 | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 24916311 | 406973 | MIR196A2 | umls:C0279626 | BeFree | Variant homozygote genotype of rs11614913 in microRNA-196a-2 and rs1595066 in ErbB4 were significantly associated with reduced ESCC risk (OR(adjusted): 0.62, 95 % CI: 0.39-0.99 and OR(adjusted): 0.38, 95 % CI: 0.24-0.61). | 0.000271442 | 2014 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 24916311 | 406938 | MIR146A | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | MIR196A2 | 12 | 53991815 | C | T |
| rs1229984 | 23430454 | 126 | ADH1C | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.000542884 | 2013 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 23430454 | 125 | ADH1B | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.12434307 | 2013 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 21157980 | 125 | ADH1B | umls:C0279626 | BeFree | The genetic variations of ADH1B His47Arg and ALDH2 Glu487Lys are susceptible loci for ESCC in Chinese Han population and interact substantially with alcohol consumption. | 0.12434307 | 2010 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 19698717 | 125 | ADH1B | umls:C0279626 | BeFree | We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include nonsynonymous single nucleotide polymorphisms (SNP) in ADH1B (rs1229984, P = 6.76 x 10(-35)) and ALDH2 (rs671, P = 3.68 x 10(-68)) that were previously shown to be associated with ESCC susceptibility. | 0.12434307 | 2009 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 23430454 | 217 | ALDH2 | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.125971721 | 2013 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 21157980 | 217 | ALDH2 | umls:C0279626 | BeFree | The genetic variations of ADH1B His47Arg and ALDH2 Glu487Lys are susceptible loci for ESCC in Chinese Han population and interact substantially with alcohol consumption. | 0.125971721 | 2010 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 23430454 | 113510 | HELQ | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.000271442 | 2013 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 19698717 | 217 | ALDH2 | umls:C0279626 | BeFree | We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include nonsynonymous single nucleotide polymorphisms (SNP) in ADH1B (rs1229984, P = 6.76 x 10(-35)) and ALDH2 (rs671, P = 3.68 x 10(-68)) that were previously shown to be associated with ESCC susceptibility. | 0.125971721 | 2009 | ADH1B | 4 | 99318162 | T | C |
| rs12602885 | 23524405 | 64223 | MLST8 | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | RPTOR | 17 | 80545369 | G | A |
| rs12602885 | 23524405 | 57521 | RPTOR | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | RPTOR | 17 | 80545369 | G | A |
| rs13016963 | 25129146 | 130540 | ALS2CR12 | umls:C0279626 | GWASCAT | Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. | 0.12 | 2014 | ALS2CR12 | 2 | 201298088 | A | G |
| rs140693 | 15205355 | 3980 | LIG3 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000271442 | 2004 | MBD4 | 3 | 129436608 | C | T |
| rs140693 | 15205355 | 7515 | XRCC1 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.122714419 | 2004 | MBD4 | 3 | 129436608 | C | T |
| rs140693 | 15205355 | 8930 | MBD4 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000542884 | 2004 | MBD4 | 3 | 129436608 | C | T |
| rs140693 | 15205355 | 142 | PARP1 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000542884 | 2004 | MBD4 | 3 | 129436608 | C | T |
| rs140693 | 15205355 | 121227 | LRIG3 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000271442 | 2004 | MBD4 | 3 | 129436608 | C | T |
| rs144848 | 12670525 | 7157 | TP53 | umls:C0279626 | BeFree | We used SSCP and DNA sequencing to assess and compare frequencies of R72P (TP53) and 5'UTR203G>A, N372H, and K1132K (BRCA2) polymorphisms in healthy Chinese subjects at varying risk for esophageal squamous cell carcinoma (ESCC) and in ESCC patients. | 0.2302496 | 2003 | BRCA2 | 13 | 32332592 | A | C |
| rs1494961 | 23430454 | 113510 | HELQ | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.000271442 | 2013 | HELQ | 4 | 83453327 | C | T |
| rs1494961 | 23430454 | 217 | ALDH2 | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.125971721 | 2013 | HELQ | 4 | 83453327 | C | T |
| rs1494961 | 23430454 | 125 | ADH1B | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.12434307 | 2013 | HELQ | 4 | 83453327 | C | T |
| rs1494961 | 23430454 | 126 | ADH1C | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.000542884 | 2013 | HELQ | 4 | 83453327 | C | T |
| rs1565684 | 24586291 | 81539 | SLC38A1 | umls:C0279626 | BeFree | NAT2 rs1565684 T>C SNP might play a slight role in ESCC etiology. | 0.000814326 | 2014 | NA | 8 | 18389154 | A | G |
| rs1570360 | 18641541 | 7422 | VEGFA | umls:C0279626 | BeFree | VEGF G-1154A is predictive of severe acute toxicities during chemoradiotherapy for esophageal squamous cell carcinoma in Japanese patients. | 0.002714419 | 2008 | VEGFA | 6 | 43770093 | A | G |
| rs1595066 | 24916311 | 2066 | ERBB4 | umls:C0279626 | BeFree | The analysis of haplotypes in ErbB4 gene showed significant increased ESCC risk in G(rs1595066)C(rs16845990) and G(rs1595066)T(rs16845990) haplotypes (OR(adjusted): 1.46, 95 % CI: 1.08-1.99 and OR(adjusted): 1.33, 95 % CI: 1.10-1.62), and inversely reduced ESCC risk in A(rs1595066)C(rs16845990) and A(rs1595066)T(rs16845990) haplotypes with OR (95 % CI) of 0.75 (0.60-0.94) and 0.65 (0.49-0.86), respectively. | 0.000542884 | 2014 | ERBB4 | 2 | 211377000 | C | T |
| rs1595066 | 24916311 | 50628 | GEMIN4 | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | ERBB4 | 2 | 211377000 | C | T |
| rs1595066 | 24916311 | 406973 | MIR196A2 | umls:C0279626 | BeFree | Variant homozygote genotype of rs11614913 in microRNA-196a-2 and rs1595066 in ErbB4 were significantly associated with reduced ESCC risk (OR(adjusted): 0.62, 95 % CI: 0.39-0.99 and OR(adjusted): 0.38, 95 % CI: 0.24-0.61). | 0.000271442 | 2014 | ERBB4 | 2 | 211377000 | C | T |
| rs1595066 | 24916311 | 406938 | MIR146A | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | ERBB4 | 2 | 211377000 | C | T |
| rs1642764 | 25129146 | 482 | ATP1B2 | umls:C0279626 | GWASCAT | Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. | 0.24 | 2014 | ATP1B2 | 17 | 7654516 | C | T |
| rs16845990 | 24916311 | 2066 | ERBB4 | umls:C0279626 | BeFree | The analysis of haplotypes in ErbB4 gene showed significant increased ESCC risk in G(rs1595066)C(rs16845990) and G(rs1595066)T(rs16845990) haplotypes (OR(adjusted): 1.46, 95 % CI: 1.08-1.99 and OR(adjusted): 1.33, 95 % CI: 1.10-1.62), and inversely reduced ESCC risk in A(rs1595066)C(rs16845990) and A(rs1595066)T(rs16845990) haplotypes with OR (95 % CI) of 0.75 (0.60-0.94) and 0.65 (0.49-0.86), respectively. | 0.000542884 | 2014 | ERBB4 | 2 | 211378286 | T | C |
| rs16845990 | 24916311 | 50628 | GEMIN4 | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | ERBB4 | 2 | 211378286 | T | C |
| rs16845990 | 24916311 | 406938 | MIR146A | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | ERBB4 | 2 | 211378286 | T | C |
| rs16944 | 23726808 | 3553 | IL1B | umls:C0279626 | BeFree | These findings indicated that the functional IL1B rs16944 G>A polymorphism might contribute to ESCC susceptibility. | 0.000542884 | 2013 | IL1B | 2 | 112837290 | A | G |
| rs1695 | 17916905 | 1548 | CYP2A6 | umls:C0279626 | BeFree | Therefore, in this study, we analyzed the risk of ESCC associated with tobacco and alcohol consumption and with polymorphisms of CYP2A6 (CYP2A6*2), CYP2E1 (CYP2E1*5B, CYP2E1*6), GSTP1 (Ile105Val), GSTM1 and GSTT1 null genotypes in 126 cases and 252 age- and gender-matched controls. | 0.120814326 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17916905 | 1571 | CYP2E1 | umls:C0279626 | BeFree | Therefore, in this study, we analyzed the risk of ESCC associated with tobacco and alcohol consumption and with polymorphisms of CYP2A6 (CYP2A6*2), CYP2E1 (CYP2E1*5B, CYP2E1*6), GSTP1 (Ile105Val), GSTM1 and GSTT1 null genotypes in 126 cases and 252 age- and gender-matched controls. | 0.001357209 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 17916905 | 2944 | GSTM1 | umls:C0279626 | BeFree | Therefore, in this study, we analyzed the risk of ESCC associated with tobacco and alcohol consumption and with polymorphisms of CYP2A6 (CYP2A6*2), CYP2E1 (CYP2E1*5B, CYP2E1*6), GSTP1 (Ile105Val), GSTM1 and GSTT1 null genotypes in 126 cases and 252 age- and gender-matched controls. | 0.001628651 | 2007 | GSTP1 | 11 | 67585218 | A | G |
| rs174538 | 24022861 | 4968 | OGG1 | umls:C0279626 | BeFree | NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246215 and rs174538 were genotyped in 187 patients with ESCC who received definitive radiotherapy with or without chemotherapy. | 0.001085767 | 2013 | TMEM258;FEN1;MIR611 | 11 | 61792609 | G | A |
| rs1789924 | 23430454 | 217 | ALDH2 | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.125971721 | 2013 | ADH1C | 4 | 99353129 | C | T |
| rs1789924 | 23430454 | 126 | ADH1C | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.000542884 | 2013 | ADH1C | 4 | 99353129 | C | T |
| rs1789924 | 23430454 | 113510 | HELQ | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.000271442 | 2013 | ADH1C | 4 | 99353129 | C | T |
| rs1789924 | 23430454 | 125 | ADH1B | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.12434307 | 2013 | ADH1C | 4 | 99353129 | C | T |
| rs1799793 | 24234258 | 2068 | ERCC2 | umls:C0279626 | BeFree | Our meta-analysis suggested that the ERCC2 Asp312Asn polymorphism might be associated with increased risk of esophageal adenocarcinoma and a protective factor for esophageal squamous cell carcinoma. | 0.003528744 | 2013 | ERCC2 | 19 | 45364001 | C | T |
| rs1800566 | 24354914 | 1728 | NQO1 | umls:C0279626 | BeFree | The NQO1 rs1800566 TT genotype was associated with a decreased risk of ESCC in a Chinese population. | 0.003724241 | 2014 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 24354914 | 1429 | CRYZ | umls:C0279626 | BeFree | quinone oxidoreductase 1 (NQO1) rs1800566 C>T and NQO2 rs2070999 G>A single-nucleotide polymorphisms on the risk of ESCC. | 0.000542884 | 2014 | NQO1 | 16 | 69711242 | G | A |
| rs1800872 | 23886125 | 3586 | IL10 | umls:C0279626 | BeFree | These findings indicated that functional polymorphism IL10 rs1800872 T>G might contribute to ESCC susceptibility. | 0.000814326 | 2014 | IL10 | 1 | 206773062 | T | G |
| rs1801173 | 24820515 | 83478 | ARHGAP24 | umls:C0279626 | BeFree | p21 rs3176352 G>C and p73 rs1801173 C>T SNPs are associated with increased risk of ESCC. | 0.000814326 | 2014 | TP73 | 1 | 3682346 | C | T |
| rs1801394 | 14652285 | 4524 | MTHFR | umls:C0279626 | BeFree | Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population. | 0.004071628 | 2003 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 14652285 | 4552 | MTRR | umls:C0279626 | BeFree | Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population. | 0.000271442 | 2003 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1805087 | 17726616 | 4881 | NPR1 | umls:C0279626 | BeFree | No significant difference in MTR A2756G genotype distribution was observed between controls (A/A 66.9%, A/G 29.8%, G/G 3.3%) and patients with ESCC (A/A 61.7%, A/G 36.3%, G/G 2.1%), BC (A/A 69.2%, A/G 26.9%, G/G 3.9%), CC (A/A 51.8%, A/G 44.6%, G/G 3.6%), or GC (A/A 73.4%, A/G 20.9%, G/G 5.7%). | 0.000542884 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 17726616 | 4548 | MTR | umls:C0279626 | BeFree | No significant difference in MTR A2756G genotype distribution was observed between controls (A/A 66.9%, A/G 29.8%, G/G 3.3%) and patients with ESCC (A/A 61.7%, A/G 36.3%, G/G 2.1%), BC (A/A 69.2%, A/G 26.9%, G/G 3.9%), CC (A/A 51.8%, A/G 44.6%, G/G 3.6%), or GC (A/A 73.4%, A/G 20.9%, G/G 5.7%). | 0.000271442 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1883965 | 23524405 | 64223 | MLST8 | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | MTOR | 1 | 11262099 | A | G |
| rs1883965 | 23524405 | 57521 | RPTOR | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | MTOR | 1 | 11262099 | A | G |
| rs1979277 | 17206530 | 4524 | MTHFR | umls:C0279626 | BeFree | The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated. | 0.004071628 | 2007 | SHMT1 | 17 | 18328782 | G | A |
| rs1979277 | 17206530 | 6470 | SHMT1 | umls:C0279626 | BeFree | The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated. | 0.000271442 | 2007 | SHMT1 | 17 | 18328782 | G | A |
| rs2010963 | 23155356 | 7422 | VEGFA | umls:C0279626 | BeFree | VEGF -634C/G genotype is predictive of long-term survival after treatment with a definitive 5-fluorouracil/cisplatin-based chemoradiotherapy in Japanese patients with esophageal squamous cell carcinoma. | 0.002714419 | 2012 | VEGFA | 6 | 43770613 | C | G |
| rs2014300 | 25129146 | 861 | RUNX1 | umls:C0279626 | GWASCAT | Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. | 0.120542884 | 2014 | RUNX1 | 21 | 34985564 | A | G |
| rs2070999 | 24354914 | 1429 | CRYZ | umls:C0279626 | BeFree | quinone oxidoreductase 1 (NQO1) rs1800566 C>T and NQO2 rs2070999 G>A single-nucleotide polymorphisms on the risk of ESCC. | 0.000542884 | 2014 | NQO2;LOC105374888 | 6 | 2999495 | A | G |
| rs2074356 | 25661349 | 283450 | HECTD4 | umls:C0279626 | BeFree | Recent genome-wide association study (GWAS) on esophageal squamous-cell carcinoma (ESCC) among Chinese population has identified two novel single nucleotide polymorphisms (SNPs) rs11066280 and rs2074356 on C12orf51 gene. | 0.000271442 | 2014 | HECTD4 | 12 | 112207597 | G | A |
| rs2151280 | 25874495 | 728655 | HULC | umls:C0279626 | BeFree | We have genotyped the ANRIL rs2151280 T/C, POLR2E rs3787016 C/T, and HULC rs7763881 A/C SNPs in 380 esophageal squamous cell carcinoma (ESCC) cases and 380 cancer-free controls. | 0.000271442 | 2015 | CDKN2B-AS1 | 9 | 22034720 | G | A |
| rs2227983 | 24945674 | 5290 | PIK3CA | umls:C0279626 | BeFree | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). | 0.003800186 | 2014 | EGFR | 7 | 55161562 | G | A,C,T |
| rs2227983 | 24945674 | 1956 | EGFR | umls:C0279626 | BeFree | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). | 0.128143256 | 2014 | EGFR | 7 | 55161562 | G | A,C,T |
| rs2239815 | 25129146 | 7494 | XBP1 | umls:C0279626 | GWASCAT | Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. | 0.12 | 2014 | XBP1 | 22 | 28796682 | T | C |
| rs2250889 | 18680431 | 4318 | MMP9 | umls:C0279626 | BeFree | Our study shows for the first time that MMP-9 gene P574R polymorphism may contribute to a genetic risk factor for ESCC in a Chinese population. | 0.002442977 | 2008 | MMP9 | 20 | 46013767 | G | C,T |
| rs2257440 | 24786982 | 8771 | TNFRSF6B | umls:C0279626 | BeFree | DcR3 rs2297441 G > A and DcR3 rs2257440 T > C polymorphisms may not contribute to the ESCC risk, and additional, larger studies are required to confirm our results. | 0.001085767 | 2015 | TNFRSF6B;RTEL1-TNFRSF6B | 20 | 63696914 | C | G,T |
| rs2267437 | 25702660 | 7520 | XRCC5 | umls:C0279626 | BeFree | In conclusion, both the CG carriers/G allele carriers of rs2267437 (XRCC6) and the haplotype AT/CC established by the SNPs of XRCC5 are associated with ESCC susceptibility. | 0.001357209 | 2014 | XRCC6;DESI1 | 22 | 41620695 | C | G |
| rs2267437 | 25702660 | 2547 | XRCC6 | umls:C0279626 | BeFree | In conclusion, both the CG carriers/G allele carriers of rs2267437 (XRCC6) and the haplotype AT/CC established by the SNPs of XRCC5 are associated with ESCC susceptibility. | 0.000271442 | 2014 | XRCC6;DESI1 | 22 | 41620695 | C | G |
| rs2273535 | 15087379 | 6790 | AURKA | umls:C0279626 | BeFree | Functional STK15 Phe31Ile polymorphism is associated with the occurrence and advanced disease status of esophageal squamous cell carcinoma. | 0.001628651 | 2004 | AURKA | 20 | 56386485 | A | T |
| rs2274223 | 25614244 | 51196 | PLCE1 | umls:C0279626 | BeFree | This meta-analysis demonstrated that PLCE1 rs2274223 A > G polymorphism may be associated with increased susceptibility to cancer, especially for ESCC. | 0.244885954 | 2014 | PLCE1 | 10 | 94306584 | A | G |
| rs2274223 | 23874915 | 51196 | PLCE1 | umls:C0279626 | BeFree | Our meta-analysis results indicated that PLCE1 rs2274223 G allele significantly contributed to the risk of ESCC and GCA, especially in Chinese population. | 0.244885954 | 2013 | PLCE1 | 10 | 94306584 | A | G |
| rs2274223 | 23222411 | 51196 | PLCE1 | umls:C0279626 | BeFree | In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223 and RFT2 13042395 SNPs play a role in EAC or ESCC susceptibility in Dutch Caucasians. | 0.244885954 | 2014 | PLCE1 | 10 | 94306584 | A | G |
| rs2274223 | 23222411 | 113278 | SLC52A3 | umls:C0279626 | BeFree | In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223 and RFT2 13042395 SNPs play a role in EAC or ESCC susceptibility in Dutch Caucasians. | 0.122171535 | 2014 | PLCE1 | 10 | 94306584 | A | G |
| rs2274223 | 25129146 | 51196 | PLCE1 | umls:C0279626 | GWASCAT | Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. | 0.244885954 | 2014 | PLCE1 | 10 | 94306584 | A | G |
| rs2274223 | 24874112 | 51196 | PLCE1 | umls:C0279626 | BeFree | In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker for DTC susceptibility particularly for ESCC and GCA in the Chinese population. | 0.244885954 | 2014 | PLCE1 | 10 | 94306584 | A | G |
| rs2274223 | 21689432 | 51196 | PLCE1 | umls:C0279626 | BeFree | A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibility locus in genome-wide association studies (GWAS) of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) that share similar risk factors with SCCHN. | 0.244885954 | 2011 | PLCE1 | 10 | 94306584 | A | G |
| rs2294008 | 24654646 | 8000 | PSCA | umls:C0279626 | BeFree | We found that the T allele of rs2294008, an intronic variant of the PSCA gene at 8q24 that was previously associated with an increased risk of gastric cancer, was inversely associated with a decreased risk of ESCC (odds ratio = 0.90; 95% confidence interval, 0.81-0.99; P = 0.034). | 0.000271442 | 2014 | PSCA | 8 | 142680513 | C | T |
| rs2297441 | 24786982 | 8771 | TNFRSF6B | umls:C0279626 | BeFree | DcR3 rs2297441 G > A and DcR3 rs2257440 T > C polymorphisms may not contribute to the ESCC risk, and additional, larger studies are required to confirm our results. | 0.001085767 | 2015 | TNFRSF6B;RTEL1;RTEL1-TNFRSF6B | 20 | 63696229 | G | A |
| rs2395655 | 24474449 | 5063 | PAK3 | umls:C0279626 | BeFree | In the multiple genetic model, we found that the rs2395655 in CDKN1A is related with the risk of ESCC, and that the G allele increases the susceptibility to ESCC (OR: 1.364; 95% CI: 1.104-1.685). | 0.000271442 | 2013 | CDKN1A;LOC105375039 | 6 | 36677919 | A | G |
| rs246079 | 25301111 | 7374 | UNG | umls:C0279626 | BeFree | These findings indicated that UNG rs246079 G/A might contribute to a decreased risk of ESCC in specific populations. | 0.000271442 | 2014 | ACACB;UNG | 12 | 109109255 | A | G |
| rs2536 | 23524405 | 57521 | RPTOR | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | MTOR | 1 | 11106656 | T | C |
| rs2536 | 23524405 | 64223 | MLST8 | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | MTOR | 1 | 11106656 | T | C |
| rs26865 | 23524405 | 57521 | RPTOR | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | MLST8 | 16 | 2203772 | A | G |
| rs26865 | 23524405 | 64223 | MLST8 | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | MLST8 | 16 | 2203772 | A | G |
| rs2910164 | 24916311 | 50628 | GEMIN4 | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 24916311 | 406938 | MIR146A | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs293795 | 24022861 | 4968 | OGG1 | umls:C0279626 | BeFree | NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246215 and rs174538 were genotyped in 187 patients with ESCC who received definitive radiotherapy with or without chemotherapy. | 0.001085767 | 2013 | OGG1;CAMK1 | 3 | 9757429 | A | G |
| rs3138355 | 25162968 | 8930 | MBD4 | umls:C0279626 | BeFree | The MBD4 rs3138355 GG genotype was associated with a decreased risk of ESCC among male patients and the elderly. | 0.000542884 | 2015 | MBD4 | 3 | 129433387 | C | T |
| rs3160 | 23524405 | 57521 | RPTOR | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | MLST8;BRICD5 | 16 | 2209190 | T | C |
| rs3160 | 23524405 | 64223 | MLST8 | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | MLST8;BRICD5 | 16 | 2209190 | T | C |
| rs3176352 | 24820515 | 83478 | ARHGAP24 | umls:C0279626 | BeFree | p21 rs3176352 G>C and p73 rs1801173 C>T SNPs are associated with increased risk of ESCC. | 0.000814326 | 2014 | CDKN1A | 6 | 36684562 | C | G,T |
| rs3213245 | 15205355 | 3980 | LIG3 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000271442 | 2004 | XRCC1;PINLYP | 19 | 43575535 | G | A |
| rs3213245 | 15205355 | 7515 | XRCC1 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.122714419 | 2004 | XRCC1;PINLYP | 19 | 43575535 | G | A |
| rs3213245 | 15205355 | 8930 | MBD4 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000542884 | 2004 | XRCC1;PINLYP | 19 | 43575535 | G | A |
| rs3213245 | 15205355 | 121227 | LRIG3 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000271442 | 2004 | XRCC1;PINLYP | 19 | 43575535 | G | A |
| rs3213245 | 15205355 | 142 | PARP1 | umls:C0279626 | BeFree | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC. | 0.000542884 | 2004 | XRCC1;PINLYP | 19 | 43575535 | G | A |
| rs3213245 | 16652158 | 7515 | XRCC1 | umls:C0279626 | BeFree | Recently, we reported a SNP (rs3213245, -77T>C) in the XRCC1 gene 5' untranslated region (UTR) was significantly associated with the risk of developing esophageal squamous-cell carcinoma. | 0.122714419 | 2006 | XRCC1;PINLYP | 19 | 43575535 | G | A |
| rs3218625 | 19347867 | 5743 | PTGS2 | umls:C0279626 | BeFree | Cyclooxygenase-2 Gly587Arg variant is associated with differential enzymatic activity and risk of esophageal squamous-cell carcinoma. | 0.126786047 | 2009 | PTGS2 | 1 | 186674409 | C | T |
| rs353163 | 16267096 | 339967 | TMPRSS11A | umls:C0279626 | BeFree | Identification of a novel polymorphism Arg290Gln of esophageal cancer related gene 1 (ECRG1) and its related risk to esophageal squamous cell carcinoma. | 0.001628651 | 2006 | TMPRSS11A | 4 | 67919056 | T | C |
| rs353163 | 21517269 | 339967 | TMPRSS11A | umls:C0279626 | BeFree | The ECRG1 290Arg/Gln polymorphism is related to risk of esophageal squamous cell carcinoma in Kashmir. | 0.001628651 | 2011 | TMPRSS11A | 4 | 67919056 | T | C |
| rs353163 | 19394797 | 339967 | TMPRSS11A | umls:C0279626 | BeFree | A single nucleotide polymorphism (SNP) (Arg290Gln) found in the coding region of ECRG1 might play a role in susceptibility to esophageal squamous cell carcinoma. | 0.001628651 | 2009 | TMPRSS11A | 4 | 67919056 | T | C |
| rs3746804 | 25427582 | 113278 | SLC52A3 | umls:C0279626 | BeFree | The functional SNP rs3746804 in C20orf54 modifies susceptibility to esophageal squamous cell carcinoma. | 0.122171535 | 2014 | SLC52A3 | 20 | 763771 | G | A |
| rs3751932 | 23524405 | 57521 | RPTOR | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | RPTOR | 17 | 80965614 | C | T |
| rs3751932 | 23524405 | 64223 | MLST8 | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | RPTOR | 17 | 80965614 | C | T |
| rs3751934 | 23524405 | 57521 | RPTOR | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | RPTOR | 17 | 80964698 | C | A |
| rs3751934 | 23524405 | 64223 | MLST8 | umls:C0279626 | BeFree | : In a case-control study of 1126 ESCC patients and 1131 cancer-free controls, we genotyped eight SNPs in mTORC1 (mTOR rs1883965 G>A and rs2536 T>C, mLST8 rs3160 C>T and rs26865 G>A, RPTOR rs3751934 C>A, rs1062935 T>C, rs3751932 T>C and rs12602885 G>A) and assessed their associations with risk of ESCC. | 0.000271442 | 2014 | RPTOR | 17 | 80964698 | C | A |
| rs3787016 | 25874495 | 728655 | HULC | umls:C0279626 | BeFree | We have genotyped the ANRIL rs2151280 T/C, POLR2E rs3787016 C/T, and HULC rs7763881 A/C SNPs in 380 esophageal squamous cell carcinoma (ESCC) cases and 380 cancer-free controls. | 0.000271442 | 2015 | POLR2E | 19 | 1090804 | A | G |
| rs3787016 | 25874495 | 5434 | POLR2E | umls:C0279626 | BeFree | POLR2E rs3787016 C/T was associated with a significantly decreased risk for ESCC (CT vs. CC: OR 0.62, 95 % CI 0.44-0.87, P = 0.005; adjusted OR 0.62, 95 % CI 0.44-0.87, P = 0.005). | 0.000271442 | 2015 | POLR2E | 19 | 1090804 | A | G |
| rs386581154 | 19347867 | 5743 | PTGS2 | umls:C0279626 | BeFree | Cyclooxygenase-2 Gly587Arg variant is associated with differential enzymatic activity and risk of esophageal squamous-cell carcinoma. | 0.126786047 | 2009 | NA | NA | NA | NA | NA |
| rs401681 | 25007268 | 81037 | CLPTM1L | umls:C0279626 | BeFree | TERT-CLPTM1L rs401681 CT and CT/TT genotypes were associated with decreased risk of ESCC, particularly among men, young patients and those reported to be drinkers. | 0.000814326 | 2014 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 25007268 | 7015 | TERT | umls:C0279626 | BeFree | TERT-CLPTM1L rs401681 CT and CT/TT genotypes were associated with decreased risk of ESCC, particularly among men, young patients and those reported to be drinkers. | 0.001085767 | 2014 | CLPTM1L | 5 | 1321972 | C | T |
| rs4246215 | 24022861 | 4968 | OGG1 | umls:C0279626 | BeFree | NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246215 and rs174538 were genotyped in 187 patients with ESCC who received definitive radiotherapy with or without chemotherapy. | 0.001085767 | 2013 | FEN1 | 11 | 61796827 | G | T |
| rs4462560 | 24022861 | 4968 | OGG1 | umls:C0279626 | BeFree | NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246215 and rs174538 were genotyped in 187 patients with ESCC who received definitive radiotherapy with or without chemotherapy. | 0.001085767 | 2013 | MAN2C1;NEIL1;MIR631 | 15 | 75355623 | G | C |
| rs4938723 | 24260422 | 407041 | MIR34B | umls:C0279626 | BeFree | These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A might alter individual susceptibility to ESCC. | 0.000271442 | 2013 | BTG4;MIR34B;MIR34C | 11 | 111511840 | T | C |
| rs4938723 | 24945256 | 407040 | MIR34A | umls:C0279626 | BeFree | The present study provides the first evidence that pri-miR-124-1 rs531564 and pri-miR-34 rs4938723 were associated with the risk of ESCC in Chinese population. | 0.000271442 | 2014 | BTG4;MIR34B;MIR34C | 11 | 111511840 | T | C |
| rs4938723 | 24260422 | 494335 | MIR423 | umls:C0279626 | BeFree | These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A might alter individual susceptibility to ESCC. | 0.120271442 | 2013 | BTG4;MIR34B;MIR34C | 11 | 111511840 | T | C |
| rs4938723 | 24945256 | 406907 | MIR124-1 | umls:C0279626 | BeFree | The present study provides the first evidence that pri-miR-124-1 rs531564 and pri-miR-34 rs4938723 were associated with the risk of ESCC in Chinese population. | 0.000271442 | 2014 | BTG4;MIR34B;MIR34C | 11 | 111511840 | T | C |
| rs531564 | 24945256 | 407040 | MIR34A | umls:C0279626 | BeFree | The present study provides the first evidence that pri-miR-124-1 rs531564 and pri-miR-34 rs4938723 were associated with the risk of ESCC in Chinese population. | 0.000271442 | 2014 | LINC00599;MIR124-1 | 8 | 9903189 | G | C |
| rs531564 | 24945256 | 406907 | MIR124-1 | umls:C0279626 | BeFree | The present study provides the first evidence that pri-miR-124-1 rs531564 and pri-miR-34 rs4938723 were associated with the risk of ESCC in Chinese population. | 0.000271442 | 2014 | LINC00599;MIR124-1 | 8 | 9903189 | G | C |
| rs61271866 | 25129146 | 100048912 | CDKN2B-AS1 | umls:C0279626 | GWASCAT | Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. | 0.120271442 | 2014 | CDKN2A;CDKN2B-AS1 | 9 | 21997016 | T | A |
| rs6443624 | 24945674 | 5290 | PIK3CA | umls:C0279626 | BeFree | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). | 0.003800186 | 2014 | PIK3CA | 3 | 179179886 | C | A |
| rs6443624 | 24945674 | 1956 | EGFR | umls:C0279626 | BeFree | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). | 0.128143256 | 2014 | PIK3CA | 3 | 179179886 | C | A |
| rs6498486 | 22374244 | 2067 | ERCC1 | umls:C0279626 | BeFree | This study was designed to investigate whether ERCC1 +262A/C and XPF -357A/C polymorphisms affect individual susceptibility to esophageal squamous cell carcinoma (ESCC) and gastric cardiac adenocarcinoma (GCA). | 0.000542884 | 2012 | ERCC4;LOC105371093 | 16 | 13919809 | A | C |
| rs6505162 | 24260422 | 407041 | MIR34B | umls:C0279626 | BeFree | These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A might alter individual susceptibility to ESCC. | 0.000271442 | 2013 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs6505162 | 24260422 | 494335 | MIR423 | umls:C0279626 | BeFree | These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A might alter individual susceptibility to ESCC. | 0.120271442 | 2013 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs671 | 19698717 | 125 | ADH1B | umls:C0279626 | BeFree | We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include nonsynonymous single nucleotide polymorphisms (SNP) in ADH1B (rs1229984, P = 6.76 x 10(-35)) and ALDH2 (rs671, P = 3.68 x 10(-68)) that were previously shown to be associated with ESCC susceptibility. | 0.12434307 | 2009 | ALDH2 | 12 | 111803962 | G | A |
| rs671 | 23430454 | 217 | ALDH2 | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.125971721 | 2013 | ALDH2 | 12 | 111803962 | G | A |
| rs671 | 23430454 | 113510 | HELQ | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.000271442 | 2013 | ALDH2 | 12 | 111803962 | G | A |
| rs671 | 23430454 | 126 | ADH1C | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.000542884 | 2013 | ALDH2 | 12 | 111803962 | G | A |
| rs671 | 23430454 | 125 | ADH1B | umls:C0279626 | BeFree | We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91). | 0.12434307 | 2013 | ALDH2 | 12 | 111803962 | G | A |
| rs671 | 19698717 | 217 | ALDH2 | umls:C0279626 | BeFree | We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include nonsynonymous single nucleotide polymorphisms (SNP) in ADH1B (rs1229984, P = 6.76 x 10(-35)) and ALDH2 (rs671, P = 3.68 x 10(-68)) that were previously shown to be associated with ESCC susceptibility. | 0.125971721 | 2009 | ALDH2 | 12 | 111803962 | G | A |
| rs6898743 | 24608110 | 2690 | GHR | umls:C0279626 | BeFree | The GC genotype of rs6898743 in the GHR gene was negatively associated with ESCC. | 0.000271442 | 2014 | GHR | 5 | 42602390 | C | G |
| rs7087131 | 19826048 | 4255 | MGMT | umls:C0279626 | BeFree | The A allele of the rs7087131 variant of MGMT gene was associated with a decreased risk of ESCC under a dominant model (odds ratio, 0.79; 95% confidence interval, 0.64-0.96; P = 0.02). | 0.122714419 | 2009 | MGMT | 10 | 129676210 | G | A |
| rs7402844 | 24022861 | 4968 | OGG1 | umls:C0279626 | BeFree | NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246215 and rs174538 were genotyped in 187 patients with ESCC who received definitive radiotherapy with or without chemotherapy. | 0.001085767 | 2013 | NEIL1 | 15 | 75345055 | C | G |
| rs7447927 | 25129146 | 340061 | TMEM173 | umls:C0279626 | GWASCAT | Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. | 0.24 | 2014 | TMEM173 | 5 | 139481561 | C | G,T |
| rs7621329 | 24945674 | 5290 | PIK3CA | umls:C0279626 | BeFree | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). | 0.003800186 | 2014 | PIK3CA | 3 | 179157086 | C | T |
| rs7621329 | 24945674 | 1956 | EGFR | umls:C0279626 | BeFree | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). | 0.128143256 | 2014 | PIK3CA | 3 | 179157086 | C | T |
| rs763110 | 24473454 | 356 | FASLG | umls:C0279626 | BeFree | The relationship between the FasL gene -844T/C SNP and ESCC was studied using PCR-RFLP and immunohistochemistry. | 0.000271442 | 2014 | FASLG | 1 | 172658358 | C | T |
| rs7651265 | 24945674 | 5290 | PIK3CA | umls:C0279626 | BeFree | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). | 0.003800186 | 2014 | PIK3CA | 3 | 179175241 | A | G |
| rs7651265 | 24945674 | 1956 | EGFR | umls:C0279626 | BeFree | EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). | 0.128143256 | 2014 | PIK3CA | 3 | 179175241 | A | G |
| rs7763881 | 25874495 | 728655 | HULC | umls:C0279626 | BeFree | We have genotyped the ANRIL rs2151280 T/C, POLR2E rs3787016 C/T, and HULC rs7763881 A/C SNPs in 380 esophageal squamous cell carcinoma (ESCC) cases and 380 cancer-free controls. | 0.000271442 | 2015 | HULC;LOC100506207 | 6 | 8653014 | A | C |
| rs7813 | 24916311 | 50628 | GEMIN4 | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | GEMIN4 | 17 | 744946 | G | A |
| rs7813 | 24916311 | 406938 | MIR146A | umls:C0279626 | BeFree | To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC. | 0.000542884 | 2014 | GEMIN4 | 17 | 744946 | G | A |
| rs7922612 | 25139097 | 51196 | PLCE1 | umls:C0279626 | BeFree | Our study for the first time suggests that GWAS originated PLCE1 variants do not have independent role in susceptibility of ESCC in northern Indian population; however, a novel haplo-tagging SNP rs7922612 may modify survival outcome of ESCC patients. | 0.244885954 | 2014 | PLCE1 | 10 | 94051682 | C | T |
| rs8126 | 25383966 | 7127 | TNFAIP2 | umls:C0279626 | BeFree | A functional TNFAIP2 3'-UTR rs8126 genetic polymorphism contributes to risk of esophageal squamous cell carcinoma. | 0.000271442 | 2014 | TNFAIP2;LOC105370684 | 14 | 103137232 | C | T |
| rs920778 | 24788237 | 100124700 | HOTAIR | umls:C0279626 | BeFree | Moreover, there is an allelic regulation of rs920778 on HOTAIR expression via this enhancer in both ESCC cell lines and normal esophageal tissue specimens, with higher HOTAIR expression among T allele carriers. | 0.001900093 | 2014 | HOTAIR | 12 | 53966448 | G | A |
| rs937283 | 23837945 | 7157 | TP53 | umls:C0279626 | BeFree | Patients carrying p53 Arg/Arg or Arg/Pro had a higher risk of esophageal SCC (P<0.001, Odds ratio [OR] 4.98, 95% confidential interval [CI] 3.46-7.17), however, not found in MDM2 rs937283. | 0.2302496 | 2013 | MDM2 | 12 | 68808384 | A | G |
| rs937283 | 23837945 | 4193 | MDM2 | umls:C0279626 | BeFree | The risk of esophageal SCC increased significantly among patients carrying p53 Arg/Arg, or Arg/Pro and HPV16-seropositivity (P<0.001, OR 9.33, 95% CI 5.44-16.0), but not for MDM2 rs937283. | 0.002985861 | 2013 | MDM2 | 12 | 68808384 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001864 | Clinodactyly of the 5th toe | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0011459 | Esophageal carcinoma | MP:0010873 | decreased trabecular bone mass | reduced total amount of trabecular bone tissue contained in the skeleton |
| Disease ID | 824 |
|---|---|
| Disease | squamous cell carcinoma of esophagus |
| Case | (Waiting for update.) |