EWSR1, EWS RNA binding protein 1, 2130

N. diseases: 251; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1298180
Disease: Single tumor
Single tumor
0.010 GeneticVariation phenotype BEFREE An RREB1-MKL2 fusion product was identified in 19 tumors (90%), a single tumor (5%) had an EWSR1-CREM fusion product, and the remaining case lacked any known fusion gene by RNA Sequencing. 29912715 2018