Entry |
|
Name |
Mutation-inactivated VHL to HIF-1 signaling pathway
|
Definition |
(VHL*+RBX1+ELOC+ELOB+CUL2) // HIF1A == ARNT => (SLC2A1,VEGFA,TGFB,PDGFB,TGFA) |
Expanded |
(7428v2+9978+6921+6923+8453) // 3091 == 405 => (6513,7422,7040,7042,7043,5155,7039) |
Class |
|
Type |
Variant
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Pathway |
|
Disease |
|
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 |
|
Variant |
|
Reference |
|
Authors |
Cohen HT, McGovern FJ. |
Title |
Renal-cell carcinoma. |
Journal |
|
Reference |
|
Authors |
Pavlovich CP, Schmidt LS. |
Title |
Searching for the hereditary causes of renal-cell carcinoma. |
Journal |
|
Reference |
|
Authors |
Linehan WM, Srinivasan R, Schmidt LS |
Title |
The genetic basis of kidney cancer: a metabolic disease. |
Journal |
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LinkDB |
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