EWSR1, EWS RNA binding protein 1, 2130

N. diseases: 251; N. variants: 6
Disease: Childhood Atypical Teratoid/Rhabdoid Tumor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2347613
Disease: Childhood Atypical Teratoid/Rhabdoid Tumor
Childhood Atypical Teratoid/Rhabdoid Tumor 		0.010 GeneticVariation disease BEFREE ES is typically characterized by rearrangement of the EWSR1 locus and ATRT by deletion of SMARCB1. 28382842 2019