PedAM
Pediatric Disease Annotations & Medicines
| small cell carcinoma | ||||
| Disease ID | 63 |
|---|---|
| Disease | small cell carcinoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0100526 | Neoplasm of the lung |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:23) HP:0002664 | Neoplasia | 10 HP:0030731 | Carcinoma | 4 HP:0002835 | Aspiration | 2 HP:0002896 | Liver cancer | 2 HP:0002860 | Squamous cell carcinoma | 2 HP:0001271 | Polyneuropathy | 2 HP:0008653 | Crescentic glomerulonephritis | 1 HP:0002202 | Pleural effusion | 1 HP:0001733 | Pancreatic inflammation | 1 HP:0011974 | Myelofibrosis | 1 HP:0003072 | Hypercalcemia | 1 HP:0005584 | Renal cell carcinoma | 1 HP:0002090 | Pneumonia | 1 HP:0100723 | Gastrointestinal stroma tumor | 1 HP:0000822 | Hypertension | 1 HP:0000099 | Glomerular nephritis | 1 HP:0000015 | Bladder diverticula | 1 HP:0000718 | Aggressive behaviour | 1 HP:0002099 | Asthma | 1 HP:0000206 | Inflammation of the tongue | 1 HP:0002576 | Intussusception | 1 HP:0001735 | Acute pancreatitis | 1 HP:0100634 | Neuroendocrine neoplasia | 1 |
| Disease ID | 63 |
|---|---|
| Disease | small cell carcinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C1963254 | tumor lysis syndrome C1704231 | leptomeningeal metastases C1321315 | paraneoplastic retinopathy C0549225 | myasthenic syndrome C0494165 | liver metastasis C0494165 | hepatic metastasis C0279672 | cervical adenocarcinoma C0220650 | brain metastases C0080032 | malignant pleural effusions C0030472 | paraneoplastic syndrome C0027726 | nephrotic syndrome C0027670 | ectopic hormone syndromes C0020437 | hypercalcemia C0010481 | cushing's syndrome C0007682 | cns disease C0001420 | papillary adenocarcinoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0494165 | liver metastasis | 2 C0020437 | hypercalcemia | 1 C0279672 | cervical adenocarcinoma | 1 C0030472 | paraneoplastic syndrome | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:38) | |||||||||||||
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| 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 |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:1) | |||||||||||||||||||||||||||||
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| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 11 | 103418158 | rs716274 | A | G | rs716274 | 21118971 | 9.00E-08 | NA | 1.83 | [1.47-2.29] (AG) | 245 Han Chinese individuals with small-cell lung cancer | Han Chinese(245) | ALL(245) | ASN(245) | ALL(245) | Small-cell lung cancer | HPOID:0100526 | Neoplasm of the lungs | DOID:5409 | lung small cell carcinoma | D055752 | Small Cell Lung Carcinoma | NA | NA | Lung cancer | rs716274-G | Research Support, Non-U.S. Gov't | A | NA |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:13) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0149925 | cyclophosphamide | D003520 | 50-18-0 | small cell lung carcinoma | MESH:D055752 | therapeutic | 1849442 | ||
| C0149925 | cisplatin | D002945 | 15663-27-1 | small cell lung carcinoma | MESH:D055752 | therapeutic | 10815935 | ||
| C0149925 | epirubicin | D015251 | 56420-45-2 | small cell lung carcinoma | MESH:D055752 | therapeutic | 1849442 | ||
| C0149925 | gemcitabine | C056507 | 103882-84-4 | small cell lung carcinoma | MESH:D055752 | therapeutic | 11325490 | ||
| C0149925 | ifosfamide | D007069 | 3778-73-2 | small cell lung carcinoma | MESH:D055752 | therapeutic | 10815935 | ||
| C0149925 | imatinib mesylate | D000068877 | - | small cell lung carcinoma | MESH:D055752 | therapeutic | 15499612 | ||
| C0149925 | mesna | D015080 | 19767-45-4 | small cell lung carcinoma | MESH:D055752 | therapeutic | 2858016 | ||
| C0149925 | methotrexate | D008727 | 1959/5/2 | small cell lung carcinoma | MESH:D055752 | therapeutic | 6293321 | ||
| C0149925 | nicotine | D009538 | - | small cell lung carcinoma | MESH:D055752 | marker/mechanism | 20457658 | ||
| C0149925 | paclitaxel | D017239 | - | small cell lung carcinoma | MESH:D055752 | therapeutic | 11230474 | ||
| C0149925 | thalidomide | D013792 | 50-35-1 | small cell lung carcinoma | MESH:D055752 | therapeutic | 19608997 | ||
| C0149925 | vincristine | D014750 | - | small cell lung carcinoma | MESH:D055752 | therapeutic | 177209 | ||
| C0149925 | vindesine | D014751 | 53643-48-4 | small cell lung carcinoma | MESH:D055752 | therapeutic | 7438123 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |