EP400, E1A binding protein p400, 57634

N. diseases: 22; N. variants: 2
Disease: Ossifying fibromyxoid tumor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1266128
Disease: Ossifying fibromyxoid tumor
Ossifying fibromyxoid tumor 		0.020 GeneticVariation disease BEFREE It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described. 26732302 2016
CUI: C1266128
Disease: Ossifying fibromyxoid tumor
Ossifying fibromyxoid tumor 		0.020 Biomarker disease BEFREE Our results suggest that the EP400-PHF1 fusion gene is a reproducible finding in ossifying fibromyxoid tumor. 23806526 2013