EWSR1, EWS RNA binding protein 1, 2130

N. diseases: 251; N. variants: 6
Disease: Sarcomatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334451
Disease: Sarcomatosis
Sarcomatosis 		0.020 GeneticVariation disease BEFREE <b>Purpose:</b> Desmoplastic small round cell tumor (DSRCT), which harbors EWSR1-WT1 t(11;22)(p13:q12) chromosomal translocation, is an aggressive malignancy that typically presents as intra-abdominal sarcomatosis in young males. 29871905 2018
CUI: C0334451
Disease: Sarcomatosis
Sarcomatosis 		0.020 GeneticVariation disease BEFREE This is the first report of "pure" or true SEF presenting as intraabdominal sarcomatosis with confirmation of the recently described unique Ewing sarcoma breakpoint region 1-cAMP-responsive element-binding protein 3-like 1 gene fusion in SEF without areas of low-grade fibromyxoid sarcoma. 25123073 2014