Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney
0.340 GeneticVariation disease BEFREE This and the YWHAE-NUTM2B/E fusion, the second most common recurrent molecular alteration in CCSK (10%), are considered to be mutually exclusive. 28440018 2017
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney
0.340 Biomarker disease BEFREE BCOR internal tandem duplication and YWHAE-NUTM2B/E fusion are mutually exclusive events in clear cell sarcoma of the kidney. 26493387 2016
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney
0.340 GeneticVariation disease BEFREE Until now, the sole recurrent genetic aberration identified in CCSKs is t(10;17)(q22;p13), which gives rise to a fusion transcript of YWHAE and NUTM2B/E. 26542179 2016
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney
0.340 GeneticVariation disease BEFREE Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E. 22294382 2012
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney
0.340 FusionGene disease ORPHANET Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E. 22294382 2012