Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 AlteredExpression BEFREE Inactivation of <i>VHL</i> causes the accumulation of hypoxia-inducible factor-1 (HIF-1), and in turn, accumulation of HIF-1 induces overexpression of vascular endothelial growth factor (VEGF); the increase in VEGF expression makes RCC a highly vascularized tumor, and forms the rationale for antiVEGF treatment. 31496820

2019

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE Integrated Genomic and Proteomic Analyses Reveal Novel Mechanisms of the Methyltransferase SETD2 in Renal Cell Carcinoma Development. 30487242

2019

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 GeneticVariation BEFREE Renal cell carcinomas (RCCs) are a diverse set of malignancies that have recently been shown to harbour mutations in a number of chromatin modifier genes - including PBRM1, SETD2, BAP1, KDM5C, KDM6A, and MLL2 - through high-throughput sequencing efforts. 30030490

2018

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE HIF-1 and total HIF pathway activation scores were decreased with higher ascorbate in pRCC tumors (Spearman <i>r</i> = -0.38, <i>p</i> < 0.05 and <i>r</i> = -0.35, <i>p</i> < 0.05).This was not evident for ccRCC tumors. 30555801

2018

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 AlteredExpression BEFREE Carbonic anhydrase 9 (CA9), which is induced by hypoxia-inducible factor 1 (HIF1) in response to hypoxia, is overexpressed in many types of cancer including renal cell carcinoma (RCC). 28851650

2017

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE Overexpression of HIF-1 has been implicated in the pathogenesis of renal cell carcinoma (RCC), and functional polymorphisms of the HIF1A gene may confer susceptibility to RCC. 28476527

2017

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE FTY720 (Fingolimod) Inhibits HIF1 and HIF2 Signaling, Promotes Vascular Remodeling, and Chemosensitizes in Renal Cell Carcinoma Animal Model. 27507852

2016

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE Recently, the human homologue, SETD2, was found to be recurrently mutated in a significant percentage of renal cell carcinomas, raising the possibility that the activity of SETD2 is tumor-suppressive. 27528607

2016

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 PosttranslationalModification BEFREE Dynamic reprogramming of DNA methylation in SETD2-deregulated renal cell carcinoma. 26646321

2016

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma. 26452128

2015

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 AlteredExpression BEFREE MOTIF analysis of aberrantly hypermethylated regions revealed enrichment for binding sites of AP2a, AHR, HAIRY, ARNT, and HIF1 transcription factors, reflecting contributions of dysregulated hypoxia signaling pathways in RCC. 24916699

2014

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 GeneticVariation BEFREE The four most commonly mutated genes in RCC of clear-cell type (the most common type) are two-hit tumor suppressor genes, and they cluster in a 43-Mb region on chromosome 3p that is deleted in approximately 90% of tumors: VHL (mutated in ∼80%), PBRM1 (∼50%), BAP1 (∼15%), and SETD2 (∼15%). 23832661

2013

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE SET domain-containing proteins such as MLL1 play a critical role in leukemogenesis, while others such as SETD2 may function as a tumor suppressor in breast cancer and renal cell carcinoma. 23065515

2013

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker CTD_human Integrated molecular analysis of clear-cell renal cell carcinoma. 23797736

2013

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE Gene deletions involved in histone modification and chromatin remodeling affected individual subtypes (clear cell: SFMBT and SETD2; papillary type 2: BAZ1A) and the collective RCC group (KDM4C). 22483639

2012

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691

2011

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE Whereas the development of hemangioblastomas and renal cell carcinomas has been attributed to impaired HIF-1/2alpha down-regulation by pVHL mutant proteins, the molecular defects underlying the development of pheochromocytomas are still unknown. 19228690

2009

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 GeneticVariation BEFREE The detection of a loss-of-function HIF1A mutation in a primary RCC is consistent with HIF-1 and HIF-2 having different roles in renal tumourigenesis, However, somatic mutations of HIF1A are not frequently implicated in the pathogenesis of RCC. 20032376

2009

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE HIF-1 inhibits mitochondrial biogenesis and cellular respiration in VHL-deficient renal cell carcinoma by repression of C-MYC activity. 17482131

2007

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 Biomarker BEFREE Contrasting properties of hypoxia-inducible factor 1 (HIF-1) and HIF-2 in von Hippel-Lindau-associated renal cell carcinoma. 15964822

2005

Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.400 AlteredExpression BEFREE Inactivation of the VHL TSG in VHL tumours and in sporadic clear cell renal cell carcinoma (RCC) results in overexpression of HIF-1 and HIF-2. 15220362

2004