Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma
0.600 GeneticVariation disease BEFREE Skeletal myxoid chondrosarcoma is a histologic variant of conventional skeletal myxoid chondrosarcoma, whereas extraskeletal myxoid chondrosarcoma is a distinct entity characterized by a reciprocal t(9;22) translocation resulting in fusion of the EWS and CHN genes. 10410173 1999
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma
0.600 GeneticVariation disease BEFREE Molecular analysis for the EWS-CHN fusion RNA resulting from the t(9;22) was performed in 15 cases (9 EMC and 6 SMC) and was detected in 7 of 9 EMC cases and 0 of 6 SMC cases. 9781944 1998
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma
0.600 Biomarker disease CTD_human