All Snps(Total Genotypes:38) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs121434569 | 24939008 | 1956 | EGFR | umls:C0149925 | BeFree | EGFR T790M secondary mutation, MET gene amplification, and transformation to small cell lung cancer are well-validated mechanisms that underlie acquisition of resistance to EGFR-TKIs. | 0.136587749 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22736441 | 3082 | HGF | umls:C0149925 | BeFree | These efforts have revealed several acquired resistance mechanisms and candidates, including EGFR secondary mutations (T790M and other rare mutations), MET amplification, PTEN downregulation, CRKL amplification, high-level HGF expression, FAS-NFκB pathway activation, epithelial-mesenchymal transition, and conversion to small cell lung cancer. | 0.007077352 | 2012 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22736441 | 4790 | NFKB1 | umls:C0149925 | BeFree | These efforts have revealed several acquired resistance mechanisms and candidates, including EGFR secondary mutations (T790M and other rare mutations), MET amplification, PTEN downregulation, CRKL amplification, high-level HGF expression, FAS-NFκB pathway activation, epithelial-mesenchymal transition, and conversion to small cell lung cancer. | 0.000271442 | 2012 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24939008 | 4233 | MET | umls:C0149925 | BeFree | EGFR T790M secondary mutation, MET gene amplification, and transformation to small cell lung cancer are well-validated mechanisms that underlie acquisition of resistance to EGFR-TKIs. | 0.010616028 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22736441 | 1956 | EGFR | umls:C0149925 | BeFree | These efforts have revealed several acquired resistance mechanisms and candidates, including EGFR secondary mutations (T790M and other rare mutations), MET amplification, PTEN downregulation, CRKL amplification, high-level HGF expression, FAS-NFκB pathway activation, epithelial-mesenchymal transition, and conversion to small cell lung cancer. | 0.136587749 | 2012 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22736441 | 5728 | PTEN | umls:C0149925 | BeFree | These efforts have revealed several acquired resistance mechanisms and candidates, including EGFR secondary mutations (T790M and other rare mutations), MET amplification, PTEN downregulation, CRKL amplification, high-level HGF expression, FAS-NFκB pathway activation, epithelial-mesenchymal transition, and conversion to small cell lung cancer. | 0.121900093 | 2012 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22736441 | 6654 | SOS1 | umls:C0149925 | BeFree | These efforts have revealed several acquired resistance mechanisms and candidates, including EGFR secondary mutations (T790M and other rare mutations), MET amplification, PTEN downregulation, CRKL amplification, high-level HGF expression, FAS-NFκB pathway activation, epithelial-mesenchymal transition, and conversion to small cell lung cancer. | 0.000814326 | 2012 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24939008 | 79811 | SLTM | umls:C0149925 | BeFree | EGFR T790M secondary mutation, MET gene amplification, and transformation to small cell lung cancer are well-validated mechanisms that underlie acquisition of resistance to EGFR-TKIs. | 0.001357209 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24939008 | 8731 | RNMT | umls:C0149925 | BeFree | EGFR T790M secondary mutation, MET gene amplification, and transformation to small cell lung cancer are well-validated mechanisms that underlie acquisition of resistance to EGFR-TKIs. | 0.001357209 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22736441 | 3569 | IL6 | umls:C0149925 | BeFree | These efforts have revealed several acquired resistance mechanisms and candidates, including EGFR secondary mutations (T790M and other rare mutations), MET amplification, PTEN downregulation, CRKL amplification, high-level HGF expression, FAS-NFκB pathway activation, epithelial-mesenchymal transition, and conversion to small cell lung cancer. | 0.000814326 | 2012 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 22736441 | 1399 | CRKL | umls:C0149925 | BeFree | These efforts have revealed several acquired resistance mechanisms and candidates, including EGFR secondary mutations (T790M and other rare mutations), MET amplification, PTEN downregulation, CRKL amplification, high-level HGF expression, FAS-NFκB pathway activation, epithelial-mesenchymal transition, and conversion to small cell lung cancer. | 0.000271442 | 2012 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121913297 | NA | 5925 | RB1 | umls:C0149925 | CLINVAR | NA | 0.364614512 | NA | RB1 | 13 | 48465028 | G | T |
| rs1778335 | 23006423 | 8564 | KMO | umls:C0149925 | BeFree | Knockdown of PIP4K2A, CCT5, CMBL, EXO1, KMO and OPN3, genes within 200 kb up-/downstream of the 3 SNPs that were associated with SCLC overall survival (rs1778335, rs2662411 and rs7519667), significantly desensitized H196 to paclitaxel. | 0.000271442 | 2012 | PIP4K2A | 10 | 22643219 | T | C |
| rs1778335 | 23006423 | 23596 | OPN3 | umls:C0149925 | BeFree | Knockdown of PIP4K2A, CCT5, CMBL, EXO1, KMO and OPN3, genes within 200 kb up-/downstream of the 3 SNPs that were associated with SCLC overall survival (rs1778335, rs2662411 and rs7519667), significantly desensitized H196 to paclitaxel. | 0.000271442 | 2012 | PIP4K2A | 10 | 22643219 | T | C |
| rs1820453 | 21118971 | 79659 | DYNC2H1 | umls:C0149925 | BeFree | We found that rs1820453 T>G SNP within the promoter region of YAP1 on chromosome 11q22 and rs716274 A>G SNP in the region of downstream of DYNC2H1 on chromosome 11q22.3 are associated with small-cell lung cancer survival. | 0.002638474 | 2010 | YAP1 | 11 | 102109604 | C | A |
| rs2662411 | 23006423 | 23596 | OPN3 | umls:C0149925 | BeFree | Knockdown of PIP4K2A, CCT5, CMBL, EXO1, KMO and OPN3, genes within 200 kb up-/downstream of the 3 SNPs that were associated with SCLC overall survival (rs1778335, rs2662411 and rs7519667), significantly desensitized H196 to paclitaxel. | 0.000271442 | 2012 | NA | 5 | 10133592 | G | A |
| rs2662411 | 23006423 | 8564 | KMO | umls:C0149925 | BeFree | Knockdown of PIP4K2A, CCT5, CMBL, EXO1, KMO and OPN3, genes within 200 kb up-/downstream of the 3 SNPs that were associated with SCLC overall survival (rs1778335, rs2662411 and rs7519667), significantly desensitized H196 to paclitaxel. | 0.000271442 | 2012 | NA | 5 | 10133592 | G | A |
| rs2736098 | 24761905 | 7015 | TERT | umls:C0149925 | BeFree | The results revealed that the variant homozygote TERT rs2736098TT was associated with an increased risk of lung cancer (OR=2.017, 95%CI=1.518-2.681), especially lung adenocarcinoma (OR=2.117, 95%CI=1.557-3.043) and small cell carcinoma (OR=1.979, 95%CI: 1.174-3.334), compared with the TERT rs2736098CC genotype. | 0.000814326 | 2015 | TERT | 5 | 1293971 | C | T |
| rs3787728 | 24976539 | 873 | CBR1 | umls:C0149925 | BeFree | Another SNP located in CBR1 (rs3787728) also showed a significant decreased risk in SCC (OR: 0.4695% CI: 0.26-0.80, P = 0.024) and small cell carcinoma (only in current smokers) (OR: 0.06895% CI: 0.01-0.42, P = 0.028). | 0.000271442 | 2014 | CBR1;LOC100133286 | 21 | 36071595 | T | C |
| rs397516435 | 8910896 | 7157 | TP53 | umls:C0149925 | BeFree | A nonsense mutation (Arg-196-Term) in exon 6 of the human TP53 gene identified in small cell lung carcinoma. | 0.260106562 | 1996 | TP53 | 17 | 7674945 | G | A |
| rs41736 | 25416047 | 8731 | RNMT | umls:C0149925 | BeFree | Single-nucleotide polymorphism rs41736 located in MET was significantly associated with prognosis of small cell lung cancer patients. | 0.001357209 | 2014 | MET | 7 | 116795714 | C | T |
| rs4760 | 19117638 | 5054 | SERPINE1 | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000271442 | 2009 | PLAUR | 19 | 43648948 | A | G |
| rs4760 | 19117638 | 5055 | SERPINB2 | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000271442 | 2009 | PLAUR | 19 | 43648948 | A | G |
| rs4760 | 19117638 | 5329 | PLAUR | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000542884 | 2009 | PLAUR | 19 | 43648948 | A | G |
| rs4866 | 16774934 | 641 | BLM | umls:C0149925 | BeFree | An SNP, Val83Met, in the MTH1 (microtT homolog 1) gene encoding a triphosphatase that hydrolyzes pro-mutagenic oxidized nucleoside triphosphates, such as 8-hydroxy-dGTP and 2-hydroxy-dATP, showed the strongest and a significant association with SCLC risk [odds ratio (OR)=1.6, 95% confidence interval (CI): 1.2-2.2, P=0.004], while three other SNPs in the TP53, BLM and SNM1 genes, respectively, also showed marginal associations (0.05<P<0.1). | 0.000271442 | 2006 | NUDT1 | 7 | 2249951 | G | A |
| rs4866 | 16774934 | 9937 | DCLRE1A | umls:C0149925 | BeFree | An SNP, Val83Met, in the MTH1 (microtT homolog 1) gene encoding a triphosphatase that hydrolyzes pro-mutagenic oxidized nucleoside triphosphates, such as 8-hydroxy-dGTP and 2-hydroxy-dATP, showed the strongest and a significant association with SCLC risk [odds ratio (OR)=1.6, 95% confidence interval (CI): 1.2-2.2, P=0.004], while three other SNPs in the TP53, BLM and SNM1 genes, respectively, also showed marginal associations (0.05<P<0.1). | 0.000271442 | 2006 | NUDT1 | 7 | 2249951 | G | A |
| rs4866 | 16774934 | 7157 | TP53 | umls:C0149925 | BeFree | An SNP, Val83Met, in the MTH1 (microtT homolog 1) gene encoding a triphosphatase that hydrolyzes pro-mutagenic oxidized nucleoside triphosphates, such as 8-hydroxy-dGTP and 2-hydroxy-dATP, showed the strongest and a significant association with SCLC risk [odds ratio (OR)=1.6, 95% confidence interval (CI): 1.2-2.2, P=0.004], while three other SNPs in the TP53, BLM and SNM1 genes, respectively, also showed marginal associations (0.05<P<0.1). | 0.260106562 | 2006 | NUDT1 | 7 | 2249951 | G | A |
| rs6092 | 19117638 | 5329 | PLAUR | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000542884 | 2009 | SERPINE1 | 7 | 101128436 | G | A |
| rs6092 | 19117638 | 5055 | SERPINB2 | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000271442 | 2009 | SERPINE1 | 7 | 101128436 | G | A |
| rs6092 | 19117638 | 5054 | SERPINE1 | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000271442 | 2009 | SERPINE1 | 7 | 101128436 | G | A |
| rs6104 | 19117638 | 5055 | SERPINB2 | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000271442 | 2009 | SERPINB2 | 18 | 63903295 | C | G |
| rs6104 | 19117638 | 5054 | SERPINE1 | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000271442 | 2009 | SERPINB2 | 18 | 63903295 | C | G |
| rs6104 | 19117638 | 5329 | PLAUR | umls:C0149925 | BeFree | To investigate this proposition we genotyped PAI-1 A15T, PLAU L141P, PLAUR L317P and PAI-2 S413C variants in 698 patients with lung cancer, 522 with non-small cell (NSCLC) and 176 with small cell lung cancer (SCLC). | 0.000542884 | 2009 | SERPINB2 | 18 | 63903295 | C | G |
| rs716274 | 21118971 | 79659 | DYNC2H1 | umls:C0149925 | GAD | [We found that rs1820453 T>G SNP within the promoter region of YAP1 on chromosome 11q22 and rs716274 A>G SNP in the region of downstream of DYNC2H1 on chromosome 11q22.3 are associated with small-cell lung cancer survival.] | 0.002638474 | 2010 | NA | 11 | 103547430 | A | G |
| rs716274 | 21118971 | 79659 | DYNC2H1 | umls:C0149925 | BeFree | We found that rs1820453 T>G SNP within the promoter region of YAP1 on chromosome 11q22 and rs716274 A>G SNP in the region of downstream of DYNC2H1 on chromosome 11q22.3 are associated with small-cell lung cancer survival. | 0.002638474 | 2010 | NA | 11 | 103547430 | A | G |
| rs717620 | 22473764 | 1244 | ABCC2 | umls:C0149925 | BeFree | SNP rs717620 in ABCC2 was moderately associated with a poor response to chemotherapy but strongly with shorter progression-free survival and overall survival in SCLC but not NSCLC patients, indicating that ABCC2 genetic variation is an important factor in SCLC survival after chemotherapy. | 0.000542884 | 2012 | ABCC2 | 10 | 99782821 | C | T |
| rs7519667 | 23006423 | 23596 | OPN3 | umls:C0149925 | BeFree | Knockdown of PIP4K2A, CCT5, CMBL, EXO1, KMO and OPN3, genes within 200 kb up-/downstream of the 3 SNPs that were associated with SCLC overall survival (rs1778335, rs2662411 and rs7519667), significantly desensitized H196 to paclitaxel. | 0.000271442 | 2012 | WDR64 | 1 | 241722005 | C | T |
| rs7519667 | 23006423 | 8564 | KMO | umls:C0149925 | BeFree | Knockdown of PIP4K2A, CCT5, CMBL, EXO1, KMO and OPN3, genes within 200 kb up-/downstream of the 3 SNPs that were associated with SCLC overall survival (rs1778335, rs2662411 and rs7519667), significantly desensitized H196 to paclitaxel. | 0.000271442 | 2012 | WDR64 | 1 | 241722005 | C | T |
