Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Mutations in BAP1 negatively affected OS, whereas SETD2 and KDM5C mutations were associated with prolonged OS in our pooled cohort of 167 patients with metastatic ccRCC. 28408295 2017
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE We excluded the samples that had any of the five high-confidence driver genes (VHL, BAP1, SETD2, PTEN and KDM5C) reported in ccRCC to avoid their possible influence in our results. 27556922 2016
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 PosttranslationalModification disease BEFREE Together, these data suggest that inactivation of JARID1C in renal cancer leads to heterochromatin disruption, genomic rearrangement, and aggressive ccRCCs. 26551685 2015
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Combined analysis of three recent large-scale clear cell renal cell carcinoma (CCRCC) mutation sequencing projects identified a significantly increased mutation frequency of PBRM1 and the X chromosome encoded KDM5C in tumors from male patients and BAP1 in tumors from female patients. 26484545 2015
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE DNA was extracted and targeted sequencing was performed on five genes associated with ccRCC (von-Hippel Lindau [VHL], PBRM1, SETD2, BAP1, and KDM5C). 25124064 2014
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE To investigate associations between computed tomographic (CT) features of clear cell renal cell carcinoma (RCC) and mutations in VHL, PBRM1, SETD2, KDM5C, or BAP1 genes. 24029645 2014
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma. 24166983 2014
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Although von Hippel-Lindau (VHL) tumor suppressor gene alterations dominate the genetic landscape of clear cell renal cell carcinoma (ccRCC), recent studies have identified new ccRCC genes, including SETD2, KDM6A, KDM5C, BAP1 and PBRM1. 22949125 2013
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE KDM5C and ARID1A were unmethylated in the TCGA 219 ccRCC and 119 adjacent normal specimens. 23644518 2013
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE Consistent with this, knockdown of JARID1C in 786-O VHL-/- ccRCC cells significantly enhanced tumor growth in a xenograft model, suggesting that JARID1C is tumor suppressive and its mutations are tumor promoting in ccRCC. 21725364 2012
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 CausalMutation disease CGI