MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
Disease: Low Grade Endometrial Stromal Sarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334486
Disease: Low Grade Endometrial Stromal Sarcoma
Low Grade Endometrial Stromal Sarcoma 		0.010 GeneticVariation disease BEFREE Two of the 43 cases (5%) had MDM2 amplification: one was a uterine LG-ESS (JAZF1 rearrangement) and the other was a undifferentiated uterine sarcoma (polysomy intact JAZF1, PHF1, and YHWAE), both metastatic to the lung. 26444253 2015