eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| adenocarcinoma of esophagus | ||||
| Disease ID | 826 |
|---|---|
| Disease | adenocarcinoma of esophagus |
| Definition | A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor. |
| Synonym | adenocarcinoma - esophagus adenocarcinoma esophageal adenocarcinoma esophagus adenocarcinoma oesophagus adenocarcinoma of esophagus (disorder) adenocarcinoma of oesophagus adenocarcinoma of the esophagus cancer esophagus adenocarcinoma esophageal adenocarcinoma esophageal cancer, adenocarcinoma esophagus adenocarcinoma esophagus cancer, adenocarcinoma oesophageal adenocarcinoma oesophageal adenocarcinoma nos |
| Orphanet | |
| DOID | |
| UMLS | C0279628 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:24) C0004763 | barrett's esophagus | 32 C0017168 | esophageal reflux | 9 C0004763 | barrett's oesophagus | 6 C0017168 | oesophageal reflux | 6 C0028754 | obesity | 5 C0017168 | esophageal reflux disease | 4 C0004763 | barrett esophagus | 3 C0017168 | gastro-oesophageal reflux | 3 C0017168 | gastroesophageal reflux | 3 C0017168 | gastro-esophageal reflux | 2 C0686619 | lymph node metastases | 2 C0007137 | squamous cell carcinoma | 2 C0017168 | gastroesophageal reflux disease | 2 C0013473 | eating disorder | 1 C0042900 | vitiligo | 1 C0022521 | kartagener syndrome | 1 C0014038 | encephalitis | 1 C0013502 | hydatid cyst | 1 C0014859 | esophageal cancer | 1 C0017168 | gastro-esophageal reflux disease | 1 C0279628 | esophageal adenocarcinoma | 1 C0013473 | eating disorders | 1 C0017168 | gastro-oesophageal reflux disease | 1 C0036202 | sarcoidosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:14) 56033 | BARX1 | CTD_human;GWASCAT 7157 | TP53 | CTD_human 7099 | TLR4 | CTD_human 23373 | CRTC1 | CTD_human;GWASCAT 8289 | ARID1A | CTD_human 27086 | FOXP1 | CTD_human 1029 | CDKN2A | CTD_human 5290 | PIK3CA | CTD_human 5743 | PTGS2 | CTD_human 23111 | SPG20 | CTD_human 9844 | ELMO1 | CTD_human 4089 | SMAD4 | CTD_human 1794 | DOCK2 | CTD_human 4745 | NELL1 | CTD_human |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:347) 5243 | ABCB1 | CIPHER 8647 | ABCB11 | CIPHER 5244 | ABCB4 | CIPHER 4363 | ABCC1 | CIPHER 1244 | ABCC2 | CIPHER 8714 | ABCC3 | CIPHER 6833 | ABCC8 | CIPHER 9429 | ABCG2 | CIPHER 25 | ABL1 | CIPHER 84680 | ACCS | CIPHER 126 | ADH1C | CIPHER 127 | ADH4 | CIPHER 196 | AHR | CIPHER 57491 | AHRR | CIPHER 11216 | AKAP10 | CIPHER 10142 | AKAP9 | CIPHER 10327 | AKR1A1 | CIPHER 8644 | AKR1C3 | CIPHER 22977 | AKR7A3 | CIPHER 207 | AKT1 | CIPHER 10840 | ALDH1L1 | CIPHER 8659 | ALDH4A1 | CIPHER 239 | ALOX12 | CIPHER 240 | ALOX5 | CIPHER 317 | APAF1 | CIPHER 324 | APC | CIPHER 328 | APEX1 | CIPHER 405 | ARNT | CIPHER 10973 | ASCC3 | CIPHER 466 | ATF1 | CIPHER 472 | ATM | CIPHER 481 | ATP1B1 | CIPHER 545 | ATR | CIPHER 6790 | AURKA | CIPHER 8313 | AXIN2 | CIPHER 578 | BAK1 | CIPHER 580 | BARD1 | CIPHER 581 | BAX | CIPHER 596 | BCL2 | CIPHER 598 | BCL2L1 | CIPHER 604 | BCL6 | CIPHER 635 | BHMT | CIPHER 637 | BID | CIPHER 330 | BIRC3 | CIPHER 332 | BIRC5 | CIPHER 673 | BRAF | CIPHER 672 | BRCA1 | CIPHER 675 | BRCA2 | CIPHER 56244 | BTNL2 | CIPHER 701 | BUB1B | CIPHER 84254 | CAMKK1 | CIPHER 824 | CAPN2 | CIPHER 10753 | CAPN9 | CIPHER 22900 | CARD8 | CIPHER 843 | CASP10 | CIPHER 835 | CASP2 | CIPHER 836 | CASP3 | CIPHER 837 | CASP4 | CIPHER 840 | CASP7 | CIPHER 841 | CASP8 | CIPHER 842 | CASP9 | CIPHER 875 | CBS | CIPHER 6352 | CCL5 | CIPHER 890 | CCNA2 | CIPHER 891 | CCNB1 | CIPHER 595 | CCND1 | CIPHER 896 | CCND3 | CIPHER 898 | CCNE1 | CIPHER 962 | CD48 | CIPHER 978 | CDA | CIPHER 993 | CDC25A | CIPHER 995 | CDC25C | CIPHER 999 | CDH1 | CIPHER 1010 | CDH12 | CIPHER 1019 | CDK4 | CIPHER 1020 | CDK5 | CIPHER 1021 | CDK6 | CIPHER 1022 | CDK7 | CIPHER 1026 | CDKN1A | CIPHER 1027 | CDKN1B | CIPHER 1029 | CDKN2A | CIPHER;CTD_human 1030 | CDKN2B | CIPHER 8837 | CFLAR | CIPHER 1080 | CFTR | CIPHER 9557 | CHD1L | CIPHER 1111 | CHEK1 | CIPHER 11200 | CHEK2 | CIPHER 23563 | CHST5 | CIPHER 1303 | COL12A1 | CIPHER 1312 | COMT | CIPHER 1401 | CRP | CIPHER 1445 | CSK | CIPHER 1490 | CTGF | CIPHER 1493 | CTLA4 | CIPHER 1524 | CX3CR1 | CIPHER 1586 | CYP17A1 | CIPHER 1588 | CYP19A1 | CIPHER 1543 | CYP1A1 | CIPHER 1544 | CYP1A2 | CIPHER 1545 | CYP1B1 | CIPHER 1591 | CYP24A1 | CIPHER 1594 | CYP27B1 | CIPHER 1562 | CYP2C18 | CIPHER 1559 | CYP2C9 | CIPHER 1571 | CYP2E1 | CIPHER 51302 | CYP39A1 | CIPHER 1576 | CYP3A4 | CIPHER 1577 | CYP3A5 | CIPHER 1603 | DAD1 | CIPHER 8449 | DHX16 | CIPHER 11083 | DIDO1 | CIPHER 1789 | DNMT3B | CIPHER 1806 | DPYD | CIPHER 54935 | DUSP23 | CIPHER 1950 | EGF | CIPHER 1956 | EGFR | CIPHER 79813 | EHMT1 | CIPHER 10919 | EHMT2 | CIPHER 2052 | EPHX1 | CIPHER 8288 | EPX | CIPHER 2064 | ERBB2 | CIPHER 2067 | ERCC1 | CIPHER 2068 | ERCC2 | CIPHER 2071 | ERCC3 | CIPHER 2072 | ERCC4 | CIPHER 2073 | ERCC5 | CIPHER 2074 | ERCC6 | CIPHER 2099 | ESR1 | CIPHER 9156 | EXO1 | CIPHER 2175 | FANCA | CIPHER 355 | FAS | CIPHER 2212 | FCGR2A | CIPHER 2264 | FGFR4 | CIPHER 53834 | FGFRL1 | CIPHER 2321 | FLT1 | CIPHER 2296 | FOXC1 | CIPHER 2356 | FPGS | CIPHER 8836 | GGH | CIPHER 2688 | GH1 | CIPHER 2690 | GHR | CIPHER 2691 | GHRH | CIPHER 2692 | GHRHR | CIPHER 51738 | GHRL | CIPHER 2693 | GHSR | CIPHER 57678 | GPAM | CIPHER 2897 | GRIK1 | CIPHER 2932 | GSK3B | CIPHER 2939 | GSTA2 | CIPHER 2950 | GSTP1 | CIPHER 2954 | GSTZ1 | CIPHER 3000 | GUCY2D | CIPHER 1404 | HAPLN1 | CIPHER 3091 | HIF1A | CIPHER 55662 | HIF1AN | CIPHER 3292 | HSD17B1 | CIPHER 3294 | HSD17B2 | CIPHER 3293 | HSD17B3 | CIPHER 3295 | HSD17B4 | CIPHER 3283 | HSD3B1 | CIPHER 3284 | HSD3B2 | CIPHER 3364 | HUS1 | CIPHER 135458 | HUS1B | CIPHER 29851 | ICOS | CIPHER 3455 | IFNAR2 | CIPHER 3458 | IFNG | CIPHER 3459 | IFNGR1 | CIPHER 3460 | IFNGR2 | CIPHER 3479 | IGF1 | CIPHER 3480 | IGF1R | CIPHER 3481 | IGF2 | CIPHER 3482 | IGF2R | CIPHER 3484 | IGFBP1 | CIPHER 3486 | IGFBP3 | CIPHER 3586 | IL10 | CIPHER 3587 | IL10RA | CIPHER 3592 | IL12A | CIPHER 3593 | IL12B | CIPHER 3594 | IL12RB1 | CIPHER 3596 | IL13 | CIPHER 3600 | IL15 | CIPHER 3601 | IL15RA | CIPHER 55540 | IL17RB | CIPHER 3552 | IL1A | CIPHER 3553 | IL1B | CIPHER 3557 | IL1RN | CIPHER 3558 | IL2 | CIPHER 3562 | IL3 | CIPHER 3565 | IL4 | CIPHER 3566 | IL4R | CIPHER 3567 | IL5 | CIPHER 3569 | IL6 | CIPHER 3570 | IL6R | CIPHER 3636 | INPPL1 | CIPHER 3667 | IRS1 | CIPHER 3673 | ITGA2 | CIPHER 3679 | ITGA7 | CIPHER 3791 | KDR | CIPHER 1316 | KLF6 | CIPHER 3845 | KRAS | CIPHER 9113 | LATS1 | CIPHER 3952 | LEP | CIPHER 3953 | LEPR | CIPHER 3978 | LIG1 | CIPHER 3980 | LIG3 | CIPHER 3981 | LIG4 | CIPHER 4015 | LOX | CIPHER 4033 | LRMP | CIPHER 4049 | LTA | CIPHER 8932 | MBD2 | CIPHER 8930 | MBD4 | CIPHER 4193 | MDM2 | CIPHER 4221 | MEN1 | CIPHER 4255 | MGMT | CIPHER 4292 | MLH1 | CIPHER 4312 | MMP1 | CIPHER 4319 | MMP10 | CIPHER 4323 | MMP14 | CIPHER 4313 | MMP2 | CIPHER 4314 | MMP3 | CIPHER 4318 | MMP9 | CIPHER 64231 | MS4A6A | CIPHER 4436 | MSH2 | CIPHER 4437 | MSH3 | CIPHER 2956 | MSH6 | CIPHER 10232 | MSLN | CIPHER 4522 | MTHFD1 | CIPHER 10797 | MTHFD2 | CIPHER 4524 | MTHFR | CIPHER 4548 | MTR | CIPHER 4552 | MTRR | CIPHER 4595 | MUTYH | CIPHER 10 | NAT2 | CIPHER 4683 | NBN | CIPHER 4790 | NFKB1 | CIPHER 4792 | NFKBIA | CIPHER 4846 | NOS3 | CIPHER 4852 | NPY | CIPHER 1728 | NQO1 | CIPHER 8204 | NRIP1 | CIPHER 4521 | NUDT1 | CIPHER 4968 | OGG1 | CIPHER 56924 | PAK6 | CIPHER 142 | PARP1 | CIPHER 5111 | PCNA | CIPHER 9141 | PDCD5 | CIPHER 5156 | PDGFRA | CIPHER 5159 | PDGFRB | CIPHER 64065 | PERP | CIPHER 5241 | PGR | CIPHER 5286 | PIK3C2A | CIPHER 5289 | PIK3C3 | CIPHER 5290 | PIK3CA | CIPHER;CTD_human 5294 | PIK3CG | CIPHER 5395 | PMS2 | CIPHER 11201 | POLI | CIPHER 5444 | PON1 | CIPHER 10940 | POP1 | CIPHER 5449 | POU1F1 | CIPHER 5467 | PPARD | CIPHER 5468 | PPARG | CIPHER 10891 | PPARGC1A | CIPHER 133522 | PPARGC1B | CIPHER 5578 | PRKCA | CIPHER 5728 | PTEN | CIPHER 9536 | PTGES | CIPHER 5740 | PTGIS | CIPHER 5742 | PTGS1 | CIPHER 5743 | PTGS2 | CIPHER;CTD_human 5781 | PTPN11 | CIPHER 5783 | PTPN13 | CIPHER 56852 | RAD18 | CIPHER 5887 | RAD23B | CIPHER 5888 | RAD51 | CIPHER 5893 | RAD52 | CIPHER 5896 | RAG1 | CIPHER 11186 | RASSF1 | CIPHER 5925 | RB1 | CIPHER 9821 | RB1CC1 | CIPHER 5933 | RBL1 | CIPHER 5979 | RET | CIPHER 5980 | REV3L | CIPHER 8786 | RGS11 | CIPHER 26575 | RGS17 | CIPHER 5997 | RGS2 | CIPHER 8490 | RGS5 | CIPHER 9628 | RGS6 | CIPHER 6240 | RRM1 | CIPHER 5276 | SERPINI2 | CIPHER 6441 | SFTPD | CIPHER 6470 | SHMT1 | CIPHER 6555 | SLC10A2 | CIPHER 85413 | SLC22A16 | CIPHER 9963 | SLC23A1 | CIPHER 9962 | SLC23A2 | CIPHER 2030 | SLC29A1 | CIPHER 4087 | SMAD2 | CIPHER 6696 | SPP1 | CIPHER 6751 | SSTR1 | CIPHER 6752 | SSTR2 | CIPHER 6891 | TAP2 | CIPHER 7015 | TERT | CIPHER 7039 | TGFA | CIPHER 7040 | TGFB1 | CIPHER 7046 | TGFBR1 | CIPHER 7056 | THBD | CIPHER 7057 | THBS1 | CIPHER 7096 | TLR1 | CIPHER 81793 | TLR10 | CIPHER 10333 | TLR6 | CIPHER 3371 | TNC | CIPHER 7124 | TNF | CIPHER 8797 | TNFRSF10A | CIPHER 7132 | TNFRSF1A | CIPHER 116447 | TOP1MT | CIPHER 7157 | TP53 | CIPHER;CTD_human 7158 | TP53BP1 | CIPHER 9540 | TP53I3 | CIPHER 7248 | TSC1 | CIPHER 7249 | TSC2 | CIPHER 7298 | TYMS | CIPHER 54657 | UGT1A4 | CIPHER 54578 | UGT1A6 | CIPHER 54576 | UGT1A8 | CIPHER 7372 | UMPS | CIPHER 7421 | VDR | CIPHER 7428 | VHL | CIPHER 7486 | WRN | CIPHER 7507 | XPA | CIPHER 7508 | XPC | CIPHER 7515 | XRCC1 | CIPHER 7516 | XRCC2 | CIPHER 7517 | XRCC3 | CIPHER 7518 | XRCC4 | CIPHER 7520 | XRCC5 | CIPHER 2547 | XRCC6 | CIPHER 7572 | ZNF24 | CIPHER 57547 | ZNF624 | CIPHER 56033 | BARX1 | CTD_human 7099 | TLR4 | CTD_human 23373 | CRTC1 | CTD_human 27086 | FOXP1 | CTD_human 23111 | SPG20 | CTD_human 8289 | ARID1A | CTD_human 4089 | SMAD4 | CTD_human 9844 | ELMO1 | CTD_human 4745 | NELL1 | CTD_human 1794 | DOCK2 | CTD_human |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:87) 10057 | ABCC5 | 1.156 | DISEASES 137872 | ADHFE1 | 2.323 | DISEASES 9370 | ADIPOQ | 1.752 | DISEASES 51094 | ADIPOR1 | 1.965 | DISEASES 79602 | ADIPOR2 | 2.063 | DISEASES 23600 | AMACR | 1.432 | DISEASES 9212 | AURKB | 1.412 | DISEASES 665 | BNIP3L | 1.322 | DISEASES 800 | CALD1 | 1.469 | DISEASES 64170 | CARD9 | 1.265 | DISEASES 8881 | CDC16 | 1.979 | DISEASES 1029 | CDKN2A | 2.809 | DISEASES 1045 | CDX2 | 3.283 | DISEASES 94027 | CGB7 | 1.448 | DISEASES 94115 | CGB8 | 1.352 | DISEASES 22866 | CNKSR2 | 2.582 | DISEASES 54875 | CNTLN | 1.335 | DISEASES 1347 | COX7A2 | 2.883 | DISEASES 1499 | CTNNB1 | 2.039 | DISEASES 9547 | CXCL14 | 1.831 | DISEASES 3491 | CYR61 | 1.616 | DISEASES 1665 | DHX15 | 2.191 | DISEASES 1804 | DPP6 | 1.484 | DISEASES 1806 | DPYD | 1.379 | DISEASES 8445 | DYRK2 | 1.84 | DISEASES 64641 | EBF2 | 1.994 | DISEASES 1999 | ELF3 | 2.174 | DISEASES 2115 | ETV1 | 1.073 | DISEASES 2272 | FHIT | 1.318 | DISEASES 2305 | FOXM1 | 1.525 | DISEASES 1647 | GADD45A | 2.391 | DISEASES 2520 | GAST | 1.709 | DISEASES 51280 | GOLM1 | 1.12 | DISEASES 2877 | GPX2 | 2.073 | DISEASES 2882 | GPX7 | 3.055 | DISEASES 2886 | GRB7 | 1.272 | DISEASES 9931 | HELZ | 2.167 | DISEASES 283460 | HNF1A-AS1 | 2.839 | DISEASES 3316 | HSPB2 | 1.508 | DISEASES 170572 | HTR3C | 2.82 | DISEASES 5650 | KLK7 | 1.045 | DISEASES 3851 | KRT4 | 1.313 | DISEASES 3855 | KRT7 | 1.293 | DISEASES 3953 | LEPR | 1.738 | DISEASES 132660 | LIN54 | 2.506 | DISEASES 286826 | LIN9 | 1.838 | DISEASES 83655 | LINC00208 | 3.742 | DISEASES 4010 | LMX1B | 1.024 | DISEASES 4116 | MAGOH | 2.693 | DISEASES 9053 | MAP7 | 3.411 | DISEASES 114614 | MIR155HG | 2.826 | DISEASES 4524 | MTHFR | 1.139 | DISEASES 4582 | MUC1 | 1.188 | DISEASES 4583 | MUC2 | 2.157 | DISEASES 4585 | MUC4 | 2.403 | DISEASES 4586 | MUC5AC | 1.755 | DISEASES 4588 | MUC6 | 2.34 | DISEASES 4595 | MUTYH | 1.246 | DISEASES 4601 | MXI1 | 1.563 | DISEASES 4609 | MYC | 2.527 | DISEASES 8260 | NAA10 | 1.265 | DISEASES 79400 | NOX5 | 1.473 | DISEASES 9971 | NR1H4 | 1.61 | DISEASES 2494 | NR5A2 | 1.14 | DISEASES 54681 | P4HTM | 1.546 | DISEASES 8641 | PCDHGB4 | 1.797 | DISEASES 5225 | PGC | 1.002 | DISEASES 5743 | PTGS2 | 3.344 | DISEASES 5770 | PTPN1 | 1.017 | DISEASES 51651 | PTRH2 | 2.226 | DISEASES 5879 | RAC1 | 1.375 | DISEASES 5887 | RAD23B | 1.27 | DISEASES 5888 | RAD51 | 1.003 | DISEASES 5916 | RARG | 1.795 | DISEASES 5983 | RFC3 | 2.403 | DISEASES 6281 | S100A10 | 1.265 | DISEASES 9037 | SEMA5A | 1.721 | DISEASES 5272 | SERPINB9 | 1.355 | DISEASES 29988 | SLC2A8 | 1.965 | DISEASES 23583 | SMUG1 | 1.288 | DISEASES 55959 | SULF2 | 1.441 | DISEASES 6865 | TACR2 | 1.277 | DISEASES 8407 | TAGLN2 | 1.731 | DISEASES 7033 | TFF3 | 1.517 | DISEASES 11076 | TPPP | 1.742 | DISEASES 51741 | WWOX | 2.787 | DISEASES 7694 | ZNF135 | 1.553 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 826 |
|---|---|
| Disease | adenocarcinoma of esophagus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0002020 | Gastroesophageal reflux HP:0002716 | Lymphadenopathy HP:0011459 | Esophageal carcinoma HP:0001513 | Obesity HP:0100580 | Barrett esophagus HP:0100749 | Chest pain HP:0002017 | Nausea and vomiting HP:0012735 | Cough HP:0001864 | Clinodactyly of the 5th toe HP:0008872 | Feeding difficulties in infancy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0100580 | Barrett's esophagus | 37 HP:0002664 | Neoplasia | 8 HP:0030731 | Carcinoma | 6 HP:0001513 | Obesity | 5 HP:0002020 | Heartburn | 4 HP:0002860 | Squamous cell carcinoma | 2 HP:0005202 | Helicobacter pylori infection | 1 HP:0001045 | Blotchy loss of skin color | 1 HP:0040264 | Jaw pain | 1 HP:0002383 | Encephalitis | 1 HP:0002015 | Swallowing difficulty | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0012531 | Pain | 1 HP:0002861 | Melanoma | 1 |
| Disease ID | 826 |
|---|---|
| Disease | adenocarcinoma of esophagus |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0004763 | barrett's esophagus | 31 C0004763 | barrett's oesophagus | 6 C0028754 | obesity | 5 C0850639 | premalignant lesion | 2 C0017168 | gastroesophageal reflux disease | 2 C0032927 | premalignant condition | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:144) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1035142 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1035142 | 21472143 | 342977 | NANOS3 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1035142 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1035142 | 21472143 | 596 | BCL2 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1035142 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1035142 | 21472143 | 841 | CASP8 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1035142 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1035142 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs1035142 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ALS2CR12 | 2 | 201288355 | T | G |
| rs10419226 | 24121790 | 23373 | CRTC1 | umls:C0279628 | GWASCAT | A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. | 0.240271442 | 2013 | CRTC1 | 19 | 18692362 | T | G |
| rs1042522 | 23735059 | 4193 | MDM2 | umls:C0279628 | BeFree | Association of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma. | 0.001085767 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23735059 | 7157 | TP53 | umls:C0279628 | BeFree | Association of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma. | 0.131867498 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20389250 | 7157 | TP53 | umls:C0279628 | BeFree | In subgroup analyses based on pathological type, the Pro variant was significantly associated with an increased esophageal squamous cell carcinoma (ESCC) risk in all four genetic comparison models (ORPro vs. Arg=1.26, 95% CI: 1.08-1.47, POR=0.003; OR Recessive genetic model=1.42, 95% CI: 1.07-1.88, POR=0.015; ORDominant genetic model=1.25, 95% CI: 1.10-1.42, POR=0.001; ORHomozygote model=1.55, 95% CI: 1.14-2.10, POR=0.005), whereas the association between TP53 Arg72Pro polymorphism and esophageal adenocarcinoma risk was still uncertain owing to the limited studies included in this meta-analysis. | 0.131867498 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs112431538 | 24077944 | 4089 | SMAD4 | umls:C0279628 | BeFree | Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC. | 0.121357209 | 2013 | TP53 | 17 | 7673767 | C | T |
| rs112431538 | 24077944 | 7157 | TP53 | umls:C0279628 | BeFree | Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC. | 0.131867498 | 2013 | TP53 | 17 | 7673767 | C | T |
| rs11540654 | 20389250 | 7157 | TP53 | umls:C0279628 | BeFree | In subgroup analyses based on pathological type, the Pro variant was significantly associated with an increased esophageal squamous cell carcinoma (ESCC) risk in all four genetic comparison models (ORPro vs. Arg=1.26, 95% CI: 1.08-1.47, POR=0.003; OR Recessive genetic model=1.42, 95% CI: 1.07-1.88, POR=0.015; ORDominant genetic model=1.25, 95% CI: 1.10-1.42, POR=0.001; ORHomozygote model=1.55, 95% CI: 1.14-2.10, POR=0.005), whereas the association between TP53 Arg72Pro polymorphism and esophageal adenocarcinoma risk was still uncertain owing to the limited studies included in this meta-analysis. | 0.131867498 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23735059 | 7157 | TP53 | umls:C0279628 | BeFree | Association of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma. | 0.131867498 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23735059 | 4193 | MDM2 | umls:C0279628 | BeFree | Association of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma. | 0.001085767 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11775256 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | TNFRSF10A | 8 | 23193972 | C | T |
| rs11775256 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | TNFRSF10A | 8 | 23193972 | C | T |
| rs11775256 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | TNFRSF10A | 8 | 23193972 | C | T |
| rs11775256 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | TNFRSF10A | 8 | 23193972 | C | T |
| rs11775256 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | TNFRSF10A | 8 | 23193972 | C | T |
| rs11775256 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | TNFRSF10A | 8 | 23193972 | C | T |
| rs11789015 | 24121790 | 56033 | BARX1 | umls:C0279628 | GWASCAT | A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. | 0.240271442 | 2013 | BARX1 | 9 | 93953746 | A | G |
| rs11941492 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | KDR | 4 | 55112043 | C | T |
| rs11941492 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | KDR | 4 | 55112043 | C | T |
| rs13181 | 15878910 | 2068 | ERCC2 | umls:C0279628 | BeFree | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66). | 0.001357209 | 2005 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 18386788 | 2068 | ERCC2 | umls:C0279628 | BeFree | No associations with EAC or EGJAC were observed with XPD (rs13181). | 0.001357209 | 2008 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13337626 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | TSC2 | 16 | 2075833 | T | C |
| rs13337626 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | TSC2 | 16 | 2075833 | T | C |
| rs13337626 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | TSC2 | 16 | 2075833 | T | C |
| rs13337626 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | TSC2 | 16 | 2075833 | T | C |
| rs1501299 | 18398047 | 5468 | PPARG | umls:C0279628 | BeFree | Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons. | 0.000814326 | 2008 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853334 | G | T |
| rs1501299 | 18398047 | 9370 | ADIPOQ | umls:C0279628 | BeFree | Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons. | 0.000542884 | 2008 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853334 | G | T |
| rs1501299 | 18398047 | 51738 | GHRL | umls:C0279628 | BeFree | Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons. | 0.000542884 | 2008 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853334 | G | T |
| rs1695 | 19222528 | 2950 | GSTP1 | umls:C0279628 | BeFree | Our review identified GSTP1(Ile105Val) as a possible risk factor for BE and EAC in Caucasian males. | 0.000814326 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs17619601 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | FLT1;LOC105370134 | 13 | 28326373 | C | T |
| rs17619601 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1;LOC105370134 | 13 | 28326373 | C | T |
| rs17619601 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1;LOC105370134 | 13 | 28326373 | C | T |
| rs17619601 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1;LOC105370134 | 13 | 28326373 | C | T |
| rs17625898 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1 | 13 | 28358693 | T | A,G |
| rs17625898 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1 | 13 | 28358693 | T | A,G |
| rs17625898 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1 | 13 | 28358693 | T | A,G |
| rs17625898 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | FLT1 | 13 | 28358693 | T | A,G |
| rs17708574 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | PDGFRB | 5 | 150141675 | G | A |
| rs17708574 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | PDGFRB | 5 | 150141675 | G | A |
| rs17708574 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | PDGFRB | 5 | 150141675 | G | A |
| rs17708574 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | PDGFRB | 5 | 150141675 | G | A |
| rs17757541 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63212453 | C | G,T |
| rs17757541 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63212453 | C | G,T |
| rs17757541 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63212453 | C | G,T |
| rs17757541 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | BCL2 | 18 | 63212453 | C | G,T |
| rs17757541 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63212453 | C | G,T |
| rs17757541 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63212453 | C | G,T |
| rs1799793 | 24234258 | 2068 | ERCC2 | umls:C0279628 | 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. | 0.001357209 | 2013 | ERCC2 | 19 | 45364001 | C | T |
| rs1805087 | 17726616 | 4548 | MTR | umls:C0279628 | BeFree | Using the restriction fragment length polymorphism (RFLP)-PCR, the prevalence of MTR A2756G and CBS insertion polymorphism was determined in healthy controls (n = 257) and in patients with esophageal squamous cell carcinoma (ESCC) (n = 263), Barrett's esophagus-associated esophageal adenocarcinoma (BC) (n = 89), cardiac carcinoma (CC) (n = 144), or gastric carcinoma (GC) (n = 221) from German Caucasian subjects. | 0.000271442 | 2008 | MTR | 1 | 236885200 | A | G |
| rs2070744 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2070744 | 21472143 | 596 | BCL2 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2070744 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2070744 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2070744 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2070744 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2070744 | 21472143 | 342977 | NANOS3 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2070744 | 21472143 | 841 | CASP8 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2070744 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | NOS3 | 7 | 150992991 | C | T |
| rs2114039 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | NA | 4 | 54226459 | T | C |
| rs2114039 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | NA | 4 | 54226459 | T | C |
| rs2114039 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | NA | 4 | 54226459 | T | C |
| rs2114039 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | NA | 4 | 54226459 | T | C |
| rs2236302 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | MMP14 | 14 | 22843345 | C | G |
| rs2236302 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | MMP14 | 14 | 22843345 | C | G |
| rs2236302 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | MMP14 | 14 | 22843345 | C | G |
| rs2236302 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | MMP14 | 14 | 22843345 | C | G |
| rs2236302 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | MMP14 | 14 | 22843345 | C | G |
| rs2236302 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | MMP14 | 14 | 22843345 | C | G |
| rs2274223 | 23222411 | 51196 | PLCE1 | umls:C0279628 | 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. | 0.000271442 | 2014 | PLCE1 | 10 | 94306584 | A | G |
| rs2295778 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | HIF1AN | 10 | 100536079 | C | G |
| rs2295778 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | HIF1AN | 10 | 100536079 | C | G |
| rs2295778 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | HIF1AN | 10 | 100536079 | C | G |
| rs2295778 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | HIF1AN | 10 | 100536079 | C | G |
| rs2296188 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | FLT1;LOC105370134 | 13 | 28319347 | T | C |
| rs2296188 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1;LOC105370134 | 13 | 28319347 | T | C |
| rs2296188 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1;LOC105370134 | 13 | 28319347 | T | C |
| rs2296188 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1;LOC105370134 | 13 | 28319347 | T | C |
| rs2445762 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | CYP19A1 | 15 | 51325511 | T | C |
| rs2445762 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | CYP19A1 | 15 | 51325511 | T | C |
| rs2445762 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | CYP19A1 | 15 | 51325511 | T | C |
| rs2445762 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | CYP19A1 | 15 | 51325511 | T | C |
| rs2445762 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | CYP19A1 | 15 | 51325511 | T | C |
| rs2445762 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | CYP19A1 | 15 | 51325511 | T | C |
| rs25487 | 15878910 | 7515 | XRCC1 | umls:C0279628 | BeFree | The protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage. | 0.001085767 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15878910 | 2068 | ERCC2 | umls:C0279628 | BeFree | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66). | 0.001357209 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs3127075 | 20453000 | 840 | CASP7 | umls:C0279628 | GAD | [In conclusion, this study suggests that the genetic variants of CASP7 and CASP9 in the apoptosis pathway may be important predictive markers for EA susceptibility and that PGR in the sex hormone signaling pathway may be associated with the gender differences in EA risk.] | 0.002638474 | 2010 | CASP7 | 10 | 113712354 | G | C |
| rs377767360 | 24077944 | 4089 | SMAD4 | umls:C0279628 | BeFree | Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC. | 0.121357209 | 2013 | SMAD4 | 18 | 51076662 | C | T |
| rs377767360 | 24077944 | 7157 | TP53 | umls:C0279628 | BeFree | Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC. | 0.131867498 | 2013 | SMAD4 | 18 | 51076662 | C | T |
| rs3784262 | 25447851 | 8854 | ALDH1A2 | umls:C0279628 | BeFree | Meta-analysis of all data identified another SNP associated with BE and esophageal adenocarcinoma: rs3784262, within ALDH1A2 (OR = 0.90; 95% CI: 0.87-0.93; P = 3.72 × 10(-9)). | 0.000271442 | 2014 | ALDH1A2 | 15 | 57960908 | T | C |
| rs3794405 | 26014353 | 2321 | FLT1 | umls:C0279628 | BeFree | FLT1 rs3794405 is significantly associated with OS in esophageal adenocarcinoma, whereby each variant allele confers a 45-60% increased risk of mortality. | 0.000542884 | 2015 | FLT1 | 13 | 28432710 | C | T |
| rs386493716 | 15878910 | 7515 | XRCC1 | umls:C0279628 | BeFree | The protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage. | 0.001085767 | 2005 | NA | NA | NA | NA | NA |
| rs386493716 | 15878910 | 2068 | ERCC2 | umls:C0279628 | BeFree | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66). | 0.001357209 | 2005 | NA | NA | NA | NA | NA |
| rs397507444 | 21951971 | 4524 | MTHFR | umls:C0279628 | BeFree | Association of methylenetetrahydrofolate reductase C677T-A1298C polymorphisms with risk for esophageal adenocarcinoma, Barrett's esophagus, and reflux esophagitis. | 0.001085767 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 23679298 | 4524 | MTHFR | umls:C0279628 | BeFree | In addition, we found that the MTHFR A1298C polymorphism might influence risk ofESCC and EAC in the overall studies. | 0.001085767 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs4661636 | 20453000 | 842 | CASP9 | umls:C0279628 | GAD | [In conclusion, this study suggests that the genetic variants of CASP7 and CASP9 in the apoptosis pathway may be important predictive markers for EA susceptibility and that PGR in the sex hormone signaling pathway may be associated with the gender differences in EA risk.] | 0.002638474 | 2010 | CASP9 | 1 | 15496566 | C | T |
| rs4740363 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ABL1 | 9 | 130753797 | A | G |
| rs4740363 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ABL1 | 9 | 130753797 | A | G |
| rs4740363 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ABL1 | 9 | 130753797 | A | G |
| rs4740363 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | ABL1 | 9 | 130753797 | A | G |
| rs4740363 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ABL1 | 9 | 130753797 | A | G |
| rs4740363 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | ABL1 | 9 | 130753797 | A | G |
| rs6214 | 24608110 | 3479 | IGF1 | umls:C0279628 | BeFree | The A allele of SNP rs6214 in the IGF-I gene was associated with EAC, and with HNC in women. | 0.001085767 | 2014 | IGF1;LOC105369942 | 12 | 102399791 | C | T |
| rs6898743 | 20403354 | 2690 | GHR | umls:C0279628 | BeFree | GH receptor SNP rs6898743 was associated with EAC (adjusted P = .0112). | 0.000271442 | 2010 | GHR | 5 | 42602390 | C | G |
| rs696217 | 18398047 | 9370 | ADIPOQ | umls:C0279628 | BeFree | Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons. | 0.000542884 | 2008 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 18398047 | 51738 | GHRL | umls:C0279628 | BeFree | Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons. | 0.000542884 | 2008 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 18398047 | 5468 | PPARG | umls:C0279628 | BeFree | Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons. | 0.000814326 | 2008 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs696217 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs720321 | 21472143 | 4323 | MMP14 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs720321 | 21472143 | 596 | BCL2 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs720321 | 21472143 | 841 | CASP8 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs720321 | 21472143 | 8797 | TNFRSF10A | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs720321 | 21472143 | 342977 | NANOS3 | umls:C0279628 | BeFree | In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also significantly associated with early onset of EA. | 0.000271442 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs720321 | 21472143 | 25 | ABL1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs720321 | 21472143 | 51738 | GHRL | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000542884 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs720321 | 21472143 | 1588 | CYP19A1 | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs720321 | 21472143 | 3791 | KDR | umls:C0279628 | BeFree | Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). | 0.000271442 | 2011 | BCL2 | 18 | 63215417 | G | A |
| rs7324547 | 21751195 | 2321 | FLT1 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000542884 | 2012 | FLT1 | 13 | 28355470 | A | G |
| rs7324547 | 21751195 | 5159 | PDGFRB | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1 | 13 | 28355470 | A | G |
| rs7324547 | 21751195 | 55662 | HIF1AN | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1 | 13 | 28355470 | A | G |
| rs7324547 | 21751195 | 7249 | TSC2 | umls:C0279628 | BeFree | In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10). | 0.000271442 | 2012 | FLT1 | 13 | 28355470 | A | G |
| rs917997 | 22664470 | 8807 | IL18RAP | umls:C0279628 | BeFree | These data show a strong association of the IL-18RAP SNP rs917997 locus with BE and EAC and suggestive association of the Barrett's population with the IL-18-607 C/A promoter polymorphism. | 0.000271442 | 2012 | NA | 2 | 102454108 | T | C |
| rs9257809 | 23504527 | 2294 | FOXF1 | umls:C0279628 | BeFree | In conclusion, this study provides evidence that MHC rs9257809 and FOXF1 rs9936833 variants, associated with Barrett's esophagus, also increase ESCC and EAC susceptibility in Caucasians. | 0.000542884 | 2013 | OR5V1 | 6 | 29388554 | A | G |
| rs9936833 | 23504527 | 2294 | FOXF1 | umls:C0279628 | BeFree | In conclusion, this study provides evidence that MHC rs9257809 and FOXF1 rs9936833 variants, associated with Barrett's esophagus, also increase ESCC and EAC susceptibility in Caucasians. | 0.000542884 | 2013 | NA | 16 | 86369512 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:10) | ||||
|---|---|---|---|---|
| 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:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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 |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0100580 | Barrett esophagus | MP:0010873 | decreased trabecular bone mass | reduced total amount of trabecular bone tissue contained in the skeleton |
| Disease ID | 826 |
|---|---|
| Disease | adenocarcinoma of esophagus |
| Case | (Waiting for update.) |