| Entry |
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| Name |
Mutation-inactivated VHL to HIF-1 signaling pathway
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| Definition |
(VHL*+RBX1+ELOC+ELOB+CUL2) // HIF1A == ARNT => (SLC2A1,VEGFA,TGFB,PDGFB,TGFA) |
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| Expanded |
(7428v2+9978+6921+6923+8453) // 3091 == 405 => (6513,7422,7040,7042,7043,5155,7039) |
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| Class |
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| Type |
Variant
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| Pathway |
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| Disease |
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| Gene |
| 7428 | VHL; von Hippel-Lindau tumor suppressor |
| 3091 | HIF1A; hypoxia inducible factor 1 alpha subunit |
| 405 | ARNT; aryl hydrocarbon receptor nuclear translocator |
| 6513 | SLC2A1; solute carrier family 2 member 1 |
| 7422 | VEGFA; vascular endothelial growth factor A |
| 7040 | TGFB1; transforming growth factor beta 1 |
| 7042 | TGFB2; transforming growth factor beta 2 |
| 7043 | TGFB3; transforming growth factor beta 3 |
| 5155 | PDGFB; platelet derived growth factor subunit B |
| 7039 | TGFA; transforming growth factor alpha |
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| Variant |
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| Reference |
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| Authors |
Cohen HT, McGovern FJ. |
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| Title |
Renal-cell carcinoma. |
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| Journal |
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| Reference |
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| Authors |
Pavlovich CP, Schmidt LS. |
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| Title |
Searching for the hereditary causes of renal-cell carcinoma. |
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| Journal |
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| Reference |
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| Authors |
Linehan WM, Srinivasan R, Schmidt LS |
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| Title |
The genetic basis of kidney cancer: a metabolic disease. |
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| Journal |
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| LinkDB |
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