PedAM
Pediatric Disease Annotations & Medicines
| renal clear cell carcinoma | ||||
| Disease ID | 809 |
|---|---|
| Disease | renal clear cell carcinoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0005584 | Renal cell carcinoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0002664 | Neoplasia | 13 HP:0030731 | Carcinoma | 4 HP:0005584 | Renal cell carcinoma | 3 HP:0010797 | Hemangioblastoma | 2 HP:0001082 | Cholecystitis | 1 HP:0000819 | Diabetes mellitus | 1 HP:0100697 | Neurofibrosarcoma | 1 HP:0002902 | Hyponatremia | 1 HP:0001901 | Abnormally shaped erythrocytes | 1 HP:0100570 | Carcinoid tumor | 1 HP:0006766 | Papillary renal cell carcinoma | 1 |
| Disease ID | 809 |
|---|---|
| Disease | renal clear cell carcinoma |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:17) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893751 | NA | 4968 | OGG1 | umls:C0279702 | CLINVAR | NA | 0.120814326 | NA | OGG1 | 3 | 9750423 | G | A |
| rs104893829 | 23990666 | 7428 | VHL | umls:C0279702 | BeFree | The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation identified in clear cell renal cell carcinoma from individuals exposed occupationally to trichloroethylene (TCE) is not known. | 0.142529675 | 2013 | VHL | 3 | 10142088 | C | T |
| rs1137100 | 24935373 | 3953 | LEPR | umls:C0279702 | BeFree | Association of leptin receptor Lys109Arg and Gln223Arg polymorphisms with increased risk of clear cell renal cell carcinoma. | 0.000271442 | 2015 | LEPR | 1 | 65570758 | A | G |
| rs1137101 | 24935373 | 3953 | LEPR | umls:C0279702 | BeFree | Association of leptin receptor Lys109Arg and Gln223Arg polymorphisms with increased risk of clear cell renal cell carcinoma. | 0.000271442 | 2015 | LEPR | 1 | 65592830 | A | G |
| rs12553173 | 19539328 | 768 | CA9 | umls:C0279702 | BeFree | CA9 rs12553173 and CAIX are independent prognostic factors of overall survival and complementary for predicting the prognosis of metastatic clear cell renal cell carcinoma. | 0.001900093 | 2009 | CA9;ARHGEF39 | 9 | 35674104 | T | C |
| rs137853247 | NA | 6927 | HNF1A | umls:C0279702 | CLINVAR | NA | 0.12 | NA | HNF1A | 12 | 120978860 | G | A,C |
| rs182052 | 25827778 | 9370 | ADIPOQ | umls:C0279702 | BeFree | ADIPOQ polymorphism rs182052 is associated with clear cell renal cell carcinoma. | 0.000271442 | 2015 | ADIPOQ | 3 | 186842993 | G | A |
| rs2010963 | 25239121 | 2324 | FLT4 | umls:C0279702 | BeFree | Our results indicate that VEGFA rs2010963 and VEGFR3 rs448012 are associated with risk of ccRCC. | 0.000271442 | 2015 | VEGFA | 6 | 43770613 | C | G |
| rs2010963 | 25239121 | 7422 | VEGFA | umls:C0279702 | BeFree | Furthermore, rs2010963 is a functional SNP that may affect ccRCC susceptibility by modulating endogenous VEGFA expression. | 0.007057489 | 2015 | VEGFA | 6 | 43770613 | C | G |
| rs28940297 | 11986208 | 7428 | VHL | umls:C0279702 | UNIPROT | Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma. | 0.142529675 | 2002 | VHL | 3 | 10149811 | T | C |
| rs34589476 | 24929890 | 7428 | VHL | umls:C0279702 | BeFree | Subsequent sequence analysis revealed a heterozygous R988C mutation of the MET gene and a VHL deletion in both the primary tumor and the tumor-derived ccRCC cell line. | 0.142529675 | 2014 | MET | 7 | 116771869 | C | T |
| rs397507444 | 21489764 | 4524 | MTHFR | umls:C0279702 | BeFree | Methylenetetrahydrofolate reductase (MTHFR) gene C677T, A1298C and G1793A polymorphisms: association with risk for clear cell renal cell carcinoma and tumour behaviour in men. | 0.002909916 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs448012 | 25239121 | 2324 | FLT4 | umls:C0279702 | BeFree | Our results indicate that VEGFA rs2010963 and VEGFR3 rs448012 are associated with risk of ccRCC. | 0.000271442 | 2015 | FLT4 | 5 | 180619344 | G | C |
| rs587776825 | NA | 6927 | HNF1A | umls:C0279702 | CLINVAR | NA | 0.12 | NA | HNF1A | 12 | 120994322 | - | C |
| rs7121 | 16467086 | 2778 | GNAS | umls:C0279702 | BeFree | The GNAS1 T393C polymorphism predicts survival in patients with clear cell renal cell carcinoma. | 0.000542884 | 2006 | GNAS | 20 | 58903752 | C | T |
| rs71428439 | 25213695 | 406941 | MIR149 | umls:C0279702 | BeFree | miR149 rs71428439 polymorphism and risk of clear cell renal cell carcinoma: a case-control study. | 0.000271442 | 2014 | GPC1;MIR149;PP14571 | 2 | 240456083 | A | G |
| rs78683075 | 18794106 | 201163 | FLCN | umls:C0279702 | UNIPROT | Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. | 0.200542884 | 2008 | FLCN | 17 | 17222565 | G | A |
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.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
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.) | |