Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE Clear cell sarcoma (CCS) of soft tissue is a rare sarcoma with morphologic similarities to malignant melanoma but a distinct genetic background including a chromosomal translocation, t(12;22)(q13;q12), or a resultant EWSR1-ATF1 fusion gene. 18300804 2008
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 AlteredExpression disease BEFREE Transcriptional profiling was performed in three tumors and their gene expression was compared to five clear cell sarcomas expressing either the EWSR1-ATF1 or EWSR1-CREB1 fusion. 17724745 2007
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE EWSR1-ATF1 also represents the most frequent genetic alteration in clear cell sarcoma, suggesting the existence of a molecular homology between these two histotypes. 18094413 2007
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE We report a novel variant fusion of EWS to CREB1, a gene at 2q32 encoding another CREB family member highly related to ATF1, detected in three women with gastrointestinal CCS. 17000668 2006
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE FISH detects EWS gene rearrangement in a substantial proportion of clear cell sarcomas, with excellent specificity. 16258500 2005
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 Biomarker disease BEFREE Interphase FISH using this newly developed probe is sensitive and specific for detecting the EWS gene on FFPE tissues and is of value in the routine clinical diagnosis of ES/PNET, DSRCT, and CCS. 16189150 2005
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE RT-PCR and sequence analysis revealed the presence of a fusion transcript bringing together exon 7 of EWS with exon 5 of ATF1, consistent with a type 2 transcript reported in association with CCS. 16327442 2005
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 AlteredExpression disease BEFREE Activation of the EWSR1-ATF1 oncogene is probably an early step in the transformation process, but the overall gene expression patterns are likely to vary considerably between AFH and CCS, in keeping with their clinicopathologic differences. 15884099 2005
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 Biomarker disease LHGDN Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses. 11992546 2002
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 Biomarker disease BEFREE New type of chimeric fusion product between the EWS and ATFI genes in clear cell sarcoma (malignant melanoma of soft parts). 9824209 1998
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE Molecular characterization of malignant melanoma of soft parts or soft tissue clear cell sarcoma which shares t(12;22) chromosome translocation revealed fusion of EWS with a transcriptional factor gene ATF-1. 8552387 1996
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE The different translocation partners of the EWS gene, all of which are putative or definite transcription factor genes, may be responsible for the biological differences between DSRCT, Ewing's sarcoma, and clear cell sarcoma. 8187063 1994
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE In Ewing's sarcoma and malignant melanoma of soft parts, translocations of band 22q12 to chromosome 11 and 12 result in the fusion of EWS with the transcription factors FLI-1 and ATF1, respectively. 8223458 1993
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.400 GeneticVariation disease BEFREE EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. 8401579 1993