Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 GeneticVariation disease BEFREE Xp11 translocation renal cell carcinoma (RCC) with SFPQ/PSF-TFE3 gene fusion is a rare epithelial tumor. 28315422 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 Biomarker disease BEFREE Secondary PSF/TFE3-associated renal cell carcinoma in a child treated for genitourinary rhabdomyosarcoma. 21504709 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 AlteredExpression disease BEFREE In papillary renal cell carcinomas the TFE3 transcription factor becomes fused to the PSF and NonO pre-mRNA splicing factors and most commonly to a protein of unknown function designated PRCC. 11313942 2001
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 GeneticVariation disease BEFREE We demonstrate that the cytogenetically defined translocation t(X;1)(p11.2;p34) observed in papillary renal cell carcinomas results in the fusion of the splicing factor gene PSF located at 1p34 to the TFE3 helix-loop-helix transcription factor gene at Xp11.2. 9393982 1997