Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma
0.340 GeneticVariation disease BEFREE A 6-year-old boy initially presented to an outside hospital with a right orbital mass with biopsy positive for translocation involving EWS RNA-binding protein 1 gene and imaging consistent with primary extraskeletal Ewing sarcoma (ES). 24814278 2016
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma
0.340 GeneticVariation disease BEFREE Extraosseous Ewing sarcoma with foci of neuroblastoma-like differentiation associated with EWSR1(Ewing sarcoma breakpoint region 1)/FLI1 translocation without prior chemotherapy. 22703924 2012
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma
0.340 GeneticVariation disease BEFREE A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. 21113140 2011
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma
0.340 FusionGene disease ORPHANET A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. 21113140 2011
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma
0.340 GeneticVariation disease BEFREE Metastatic extraosseous Ewing tumor. Association of the additional translocation der(16)t(1;16) with the variant EWS/ERG rearrangement in a case of cytogenetically inconspicuous chromosome 22. 8625264 1996