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: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE Furthermore, molecular detection of EWSR1-WT1 fusion gene conclusively confirmed the diagnosis of DSRCT in this uncommon location. 31103034 2019
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE Desmoplastic Small Round Cell Tumor (DSRCT) is a rare sarcoma tumor of adolescence and young adulthood, which harbors a recurrent chromosomal translocation between the Ewing's sarcoma gene (EWSR1) and the Wilms' tumor suppressor gene (WT1). 29626752 2018
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 GeneticVariation disease BEFREE In these challenging cases, detection of an EWSR1-WT1 rearrangement and selective WT1 carboxy-terminus immunoreactivity (characteristic of DSRCT) or dual immunoreactivity for the WT1 amino-terminus and carboxy-terminus (characteristic of WT) remain the most discriminating diagnostic tools. 24832162 2014
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 GeneticVariation disease BEFREE One SNP in EWSR1 (rs2857461) showed a low level of statistical association with the diagnosis of Ewing sarcoma compared to Wilms tumor. 21793187 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 GeneticVariation disease BEFREE The novel fusion of exon 8 of EWS and the defective exon 10 of WT1 (-KTS) was detected. 17021139 2006
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 GeneticVariation disease BEFREE Desmoplastic small cell tumor (DSCT) is a distinct type of small blue cell tumors and is characterized by the unique karyotypic aberration involving the fusion of the Ewing's sarcoma (EWS) gene and Wilms' tumor (WT1) gene. 15166674 2004
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE Desmoplastic small round cell tumor (DSRCT) is defined by a chimeric transcription factor, resulting from fusion of the N-terminal domain of the Ewing's sarcoma gene EWS to the three C-terminal zinc fingers of the Wilms' tumor suppressor WT1. 12923058 2003
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE EWS-WT1 is a chimeric transcription factor resulting from fusion of the N-terminal domain of the Ewing sarcoma gene EWS to the three C-terminal zinc fingers of the Wilms tumor suppressor WT1. 11960373 2002
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE This chromosomal translocation generates a chimeric transcript that is formed by fusion of the 5' region of the Ewing's sarcoma gene, EWS, with the 3' DNA-binding segment of WT1, the Wilms' tumor suppressor gene. 10999739 2000
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 GeneticVariation disease BEFREE For cases in which the morphologic and immunohistochemical features are consistent with a diagnosis of DSRCT, WT1 antibody staining predicts the EWS-WT1 translocation with high sensitivity and specificity and is, therefore, useful for differentiating DSRCT from EWS/PNET when genetic information is unavailable. 10989634 2000
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 AlteredExpression disease BEFREE On the other hand, a number of oncogenes, including mutant p53 and c-myb, and the fusion protein EWS-WT1 significantly stimulate promoter activity. 11001824 2000
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 GeneticVariation disease BEFREE A t(11;22)(p13;p12) chromosomal translocation, juxtaposing the Wilms' tumor (WT1) and Ewing's sarcoma (EWS) genes, is the cytogenetic hallmark of desmoplastic small round cell tumor (DSRCT), a primitive multiphenotypic sarcoma arising in serosal tissues. 9071577 1997
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE The WT-1 and EWS genes encode DNA and RNA binding proteins involved in Wilms' tumor and Ewing sarcoma pathogenesis, respectively. 8522311 1995
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE Southern blot analysis revealed recurrent rearrangement of both EWS, located at 22q12, and rearranged in other tumor-specific translocations in Ewing's sarcoma and clear cell sarcoma, and of WT1, the gene at 11p13 involved in a subset of Wilms' tumor. 8187063 1994