Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 GeneticVariation disease BEFREE Disease-free survival curves of Kif11 with different cancers and the relationships between Kif11 and the von Hippel-Lindau disease tumour suppressor gene (<i>VHL</i>), and proliferating cell nuclear antigen (PCNA) in kidney cancer were further analysed using the GEPIA database. 30819726 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 GeneticVariation disease BEFREE Glycolysis and antioxidant pathways in kidney cancer are elevated, with frequent mutation of the VHL gene. 28408240 2017
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE Inactivation of the von Hippel-Lindau tumor suppressor protein (pVHL) is the signature lesion in the most common form of kidney cancer, clear cell renal cell carcinoma (ccRCC). pVHL loss causes the transcriptional activation of hypoxia-inducible factor (HIF) target genes, including many genes that encode histone lysine demethylases. 28701475 2017
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE VHL-deficient clear cell renal cell carcinomas (ccRCC), the most common form of kidney cancer, express transcripts derived from the novel human endogenous retrovirus HERV-E (named CT-RCC HERV-E). 26862115 2016
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE Furthermore, complex indels display strong tissue specificity (such as VHL in kidney cancer samples and GATA3 in breast cancer samples). 26657142 2016
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 AlteredExpression disease BEFREE Clear cell renal cell carcinoma (ccRCC) is the major subtype of kidney cancer that is characterized by frequent inactivation of the von Hippel-Lindau (VHL) gene in 80-90% of the tumors. 25873528 2015
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 GeneticVariation disease BEFREE It exhibits a different molecular signature than clear-cell carcinoma and is typically not associated with mutations in the VHL (von Hippel-Lindau) tumor suppressor gene. pRCC is less responsive to modern drugs introduced in the management of kidney cancer in the past decade. 24629521 2014
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients. 23744542 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE Renal cancer is resistant to conventional chemotherapy and radiotherapy but increased understanding of the underlying tumour biology is leading to the use and development of targeted therapies, such as tyrosine kinase inhibitors targeting pathways downstream of the von Hippel Lindau tumour suppressor gene. 23228867 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE Epigenetic expansion of VHL-HIF signal output drives multiorgan metastasis in renal cancer. 23223005 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 AlteredExpression disease BEFREE Somatic mutations or loss of expression of tumor suppressor VHL happen in the vast majority of clear cell Renal Cell Carcinoma, and it's causal for kidney cancer development. 24260413 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE While seven FDA-approved agents that target the VHL pathway have been approved for the treatment of patients with advanced kidney cancer, further genomic studies, such as whole genome sequencing, gene expression patterns, and gene copy number, will be required to gain a complete understanding of the genetic basis of kidney cancer and of the kidney cancer gene pathways and, most importantly, to provide the foundation for the development of effective forms of therapy for patients with this disease. 23038766 2012
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE This review aims to focus on pathways in renal cancer (VHL/HIF, mTOR, c-MYC, c-MET, and immune response) in the respective tumor subtypes, accounting for the effects of targeted therapies and providing the framework to search for relevant predictive biomarkers and propose new trials. 21677472 2011
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 AlteredExpression disease BEFREE Inactivation of the von Hippel-Lindau tumor suppressor leads to selective expression of a human endogenous retrovirus in kidney cancer. 21602888 2011
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE Inactivation of the von Hippel-Lindau tumor suppressor protein (pVHL) causes the most common form of kidney cancer. pVHL is part of a complex that polyubiquitinates the alpha subunit of the heterodimeric transcription factor HIF. 20973793 2010
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE VHL is the gene for clear cell kidney cancer. 20059341 2010
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE The VHL gene is the gene for the hereditary cancer syndrome, von Hippel-Lindau, as well as for the common form of sporadic, noninherited, clear cell kidney cancer. 19402075 2009
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 AlteredExpression disease BEFREE Loss of VHL function causes the overexpression of transforming growth factor (TGF)-alpha, leading us to hypothesize that TGF-alpha could be a potential TAA for immunotherapy of kidney cancer, which was evaluated in this study. 19052740 2009
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 GeneticVariation disease BEFREE Clear-cell renal cell carcinoma (RCC) is the most prevalent form of kidney cancer and is frequently associated with loss of von Hippel-Lindau (VHL) gene function, resulting in the aberrant transcriptional activation of genes that contribute to tumor growth and metastasis, including transforming growth factor-alpha (TGF-alpha), a ligand of the epidermal growth factor receptor (EGFR) tyrosine kinase. 18243508 2008
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE We investigated whether alcohol is associated with (epi)genetic changes of the von Hippel-Lindau (VHL) gene in renal cell cancer. 19064569 2008
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE The VHL gene product, pVHL, has multiple functions, but the best documented, and the one most clearly linked to tumor development, relates to its role as the substrate recognition module of a ubiquitin ligase complex that targets hypoxia-inducible factor (HIF) for destruction. pVHL function is often compromised in sporadic kidney cancers, and inhibitors of the HIF-responsive growth factor (vascular endothelial growth factor) are active against this disease. pVHL, by inhibiting atypical protein kinase C and hence JunB, also affects neuronal survival, as do the products of the other genes linked to familial pheochromocytoma or paraganglioma (NF1, RET, SDHB, SDHC, and SDHD). 18039096 2007
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE Most of what is known about the genetic basis of kidney cancer has been learned from study of the inherited forms of kidney cancer: von Hippel Lindau (VHL gene), hereditary papillary renal carcinoma (c-Met gene), Birt Hogg Dubé (BHD gene), and hereditary leiomyomatosis renal cell cancer (fumarate hydratase gene). 17255292 2007
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 GeneticVariation disease BEFREE The von Hippel-Lindau tumor suppressor protein (pVHL) is frequently mutated in kidney cancer and is part of the ubiquitin ligase complex that targets prolyl hydroxylated HIFalpha for destruction. 17220275 2007
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 GeneticVariation disease BEFREE Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. 16488999 2006
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.700 Biomarker disease BEFREE The von Hippel-Lindau (VHL) gene is the major renal cancer gene in adults. 14973063 2004