NFE2, nuclear factor, erythroid 2, 4778

N. diseases: 57; N. variants: 3
Disease: Granulocytic Sarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152276
Disease: Granulocytic Sarcoma
Granulocytic Sarcoma 		0.010 GeneticVariation disease BEFREE These myelosarcomas and leukemias acquired AML-specific alterations, including the murine equivalent of trisomy 8, loss of the AML commonly deleted region on chromosome 5q, and mutations in the tumor suppressor <i>Trp53</i> Our data show that mutations in NFE2 predispose to the acquisition of secondary changes promoting the development of myelosarcoma and/or AML. 30755419 2019