Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 GeneticVariation disease BEFREE Xp11.2 translocation renal neoplasm with features of TFE3 rearrangement associated renal cell carcinoma and Xp11 translocation renal mesenchymal tumor with melanocytic differentiation harboring NONO-TFE3 fusion gene. 31277953 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 Biomarker disease BEFREE Renal cell carcinomas (RCC) harboring a TFE3 gene fusion (TfRCC) represent an aggressive subset of kidney tumors. 31519159 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 GeneticVariation disease BEFREE Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion renal cell carcinoma (Xp11.2 translocation RCC) was first classified as a distinct type of renal tumor by the World Health Organization in 2004. 30787990 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 Biomarker disease BEFREE TFE3 may promote renal tumor growth by regulating cell cycle progression and activating the phosphatidylinositol 3‑kinase/AKT serine/threonine kinase 1/mTOR signaling pathway. 28713889 2017
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 Biomarker disease BEFREE Xp11.2 RCC with PSF-TFE3 inevitably requires differentiation from other kidney neoplasms. 25582502 2015
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 GeneticVariation disease BEFREE Re-evaluation of histological type by immunohistochemical and genetic study of transcription factors (TFE3 and TFEB) of VHL gene mutation-negative clear cell renal cell carcinoma and other special types of renal tumor. 21424937 2011
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 GeneticVariation disease BEFREE We describe 2 cases of malignant melanotic epithelioid renal neoplasms bearing TFE3 gene fusions. 19065101 2009
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 GeneticVariation disease BEFREE None of the other renal neoplasms expressed cathepsin-K. We conclude the following: (1) cathepsin-K is consistently and strongly expressed in TFEB translocation renal cell carcinomas and in 6 of 10 TFE3 translocation renal cell carcinomas. 19396149 2009
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 Biomarker disease BEFREE 2 translocations/TFE3-gene fusion represent a special type of renal neoplasm showing deregulation of specific cell cycle components. 18358634 2008
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 Biomarker disease BEFREE Whereas TFE3 is typically fused to partner proteins in subsets of renal tumors, we found that wild-type, unfused TFE3 stimulates clonogenic growth in a cell-based assay, suggesting that dysregulated expression, rather than altered function of TFEB or TFE3 fusions, may confer neoplastic properties, a mechanism reminiscent of MYC activation by promoter substitution in Burkitt's lymphoma. 12719541 2003
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.100 Biomarker disease BEFREE The morphology of these eight ASPL-TFE3 fusion-positive renal tumors, although overlapping in some aspects that of classic ASPS, more closely resembles renal cell carcinoma (RCC), which was the a priori diagnosis in all cases. 11438465 2001