ESX1, ESX homeobox 1, 80712

N. diseases: 14; N. variants: 0
Disease: Adult Ependymoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		0.010 GeneticVariation disease BEFREE Though recurrent somatic mutations in IMSCTs were rare, we identified NF2 mutations in 15.7% of tumors (ependymoma, N = 7; astrocytoma, N = 1), RP1 mutations in 5.9% of tumors (ependymoma, N = 3), and ESX1 mutations in 5.9% of tumors (ependymoma, N = 3). 31822682 2019