| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | Biomarker | disease | BEFREE | Increases of vascular endothelial growth factor (VEGF), hypoxia induced factor (HIF), and ubiquitin are found in ocular hemangioblastomas.Interestingly, tumorlet cells, which are composed of poorly differentiated small cells with prominent dark nuclei and little cytoplasm, as well as several stem cell markers, such as erythropoietin (Epo), Epo receptor (EpoR), and CD133, are present in ocular VHL lesions. | 17218907 | 2007 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | The R200W mutation in the von Hippel-Lindau (VHL) tumor suppressor protein (pVHL) is unique in that it is not associated with tumor development, but rather with Chuvash polycythemia, a heritable disease characterized by elevated hematocrit and increased serum levels of erythropoietin and VEGF. | 17992257 | 2007 | ||||
|
0.070 | AlteredExpression | disease | BEFREE | Coexpression of Epo and EpoR was detected in 50 out of 54 tumors regardless of their VHL mutation status. | 16627979 | 2006 | ||||
|
0.070 | Biomarker | disease | BEFREE | Data from previous studies of VHL disease-associated hemangioblastomas (HBs) and renal cell carcinomas (RCCs) have indicated that VHL gene deficiency causes coexpression of erythropoietin (Epo) and its receptor (Epo-R), which facilitates tumor growth. | 16175858 | 2005 | ||||
|
0.070 | Biomarker | disease | BEFREE | These findings suggest an alternative process of tumorigenesis in VHL- and MEN 2-associated pheochromocytomas and implicate Epo as a clinical biomarker to differentiate these tumors. | 15769989 | 2005 | ||||
|
0.070 | Biomarker | disease | BEFREE | We show that VHL disease-associated renal clear cell carcinomas (RCC) consistently coexpress erythropoietin (Epo) and Epo receptor (EpoR). | 15709172 | 2005 | ||||
|
0.070 | Biomarker | disease | BEFREE | We demonstrate that VHL disease-associated central nervous system tumors are composed of developmentally arrested angioblasts that coexpress erythropoietin (Epo) and Epo receptor. | 14612494 | 2003 |