EWSR1, EWS RNA binding protein 1, 2130

N. diseases: 251; N. variants: 6
Disease: Gastrointestinal Neoplasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms 		0.010 GeneticVariation group BEFREE From a molecular point of view, these neoplasias are grouped into 2 main types: (a) sarcomas showing relatively simple karyotypes and translocations, which originate gene fusions (eg, EWS-FLI1 in Ewing sarcoma) or point mutations (eg, c-kit in the gastrointestinal tumors) and (b) sarcomas showing unspecific gene alterations, very complex karyotypes, and no translocations. 20418671 2010