eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| transitional cell carcinoma | ||||
| Disease ID | 1323 |
|---|---|
| Disease | transitional cell carcinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:31) C1881254 | inverted papilloma C1335748 | adenocarcinoma of the renal pelvis C1332560 | leiomyoma of the urinary bladder C0850011 | human papilloma virus C0745091 | hypereosinophilia C0742965 | eosinophilic cystitis C0699885 | carcinoma of the urinary bladder C0684830 | axillary metastasis C0494165 | liver metastases C0347016 | spinal cord metastasis C0267361 | pyeloduodenal fistula C0238457 | renal vein thrombosis C0153687 | skin metastasis C0153687 | cutaneous metastasis C0153676 | pulmonary metastasis C0153676 | pulmonary metastases C0153676 | lung metastases C0041960 | ureterocele C0023501 | leukemoid reaction C0022679 | cystic kidneys C0022661 | end stage renal disease C0022658 | nephropathy C0021841 | intestinal tumor C0020758 | ichthyosis C0020437 | hypercalcemia C0020295 | hydronephrosis C0008497 | choriocarcinoma C0005695 | tumor of the bladder C0005695 | bladder tumor C0002880 | autoimmune haemolytic anaemia C0002793 | anaplasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0007099 | carcinoma in situ | 2 C0030472 | paraneoplastic syndrome | 1 C0686619 | lymph node metastases | 1 C0023501 | leukemoid reaction | 1 C0153676 | pulmonary metastases | 1 C1516669 | clonal evolution | 1 C0153687 | cutaneous metastasis | 1 C0206721 | inverted papilloma | 1 C0153687 | skin metastasis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:12) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs13181 | 25018058 | 2068 | ERCC2 | umls:C0007138 | BeFree | The aim of this study was to examine the association between polymorphisms of the DNA repair genes, XRCC1 Arg194Trp, XRCC1 Arg399Gln, XRCC3 Thr241Met, and XPD Lys751Gln, with urinary arsenic profiles and UC. | 0.002909916 | 2014 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 25018058 | 2068 | ERCC2 | umls:C2145472 | BeFree | The aim of this study was to examine the association between polymorphisms of the DNA repair genes, XRCC1 Arg194Trp, XRCC1 Arg399Gln, XRCC3 Thr241Met, and XPD Lys751Gln, with urinary arsenic profiles and UC. | 0.000542884 | 2014 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs1799782 | 25018058 | 7515 | XRCC1 | umls:C0007138 | BeFree | XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. | 0.00554839 | 2014 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 25018058 | 7515 | XRCC1 | umls:C2145472 | BeFree | XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. | 0.000542884 | 2014 | XRCC1 | 19 | 43553422 | G | A |
| rs25487 | 25018058 | 7515 | XRCC1 | umls:C0007138 | BeFree | XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. | 0.00554839 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25018058 | 7515 | XRCC1 | umls:C2145472 | BeFree | XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. | 0.000542884 | 2014 | XRCC1 | 19 | 43551574 | T | C |
| rs386493716 | 25018058 | 7515 | XRCC1 | umls:C0007138 | BeFree | XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. | 0.00554839 | 2014 | NA | NA | NA | NA | NA |
| rs386493716 | 25018058 | 7515 | XRCC1 | umls:C2145472 | BeFree | XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. | 0.000542884 | 2014 | NA | NA | NA | NA | NA |
| rs386545546 | 25018058 | 7515 | XRCC1 | umls:C0007138 | BeFree | XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. | 0.00554839 | 2014 | NA | NA | NA | NA | NA |
| rs386545546 | 25018058 | 7515 | XRCC1 | umls:C2145472 | BeFree | XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. | 0.000542884 | 2014 | NA | NA | NA | NA | NA |
| rs7121 | 15824158 | 2778 | GNAS | umls:C0007138 | BeFree | To assess the role of the GNAS1 locus encoding G(alpha)s as a genetic factor for disease progression of transitional cell carcinoma (TCC) of the bladder, we genotyped the synonymous T393C polymorphism in 254 patients with TCC (minor allele frequency: 0.43) to examine a potential association between genotypes and disease progression. | 0.000271442 | 2005 | GNAS | 20 | 58903752 | C | T |
| rs9904341 | 19038421 | 332 | BIRC5 | umls:C0007138 | BeFree | Association between survivin gene promoter -31 C/G polymorphism and urothelial carcinoma risk in Taiwanese population. | 0.002638474 | 2009 | BIRC5 | 17 | 78214286 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1323 |
|---|---|
| Disease | transitional cell carcinoma |
| Case | (Waiting for update.) |