EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE The patients with EP300 mutations displayed the typical facial gestalt and malformation pattern compatible with the diagnosis of RSTS. 17220215 2007