UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: Petit mal status ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270823
Disease: Petit mal status
Petit mal status 		0.010 GeneticVariation disease BEFREE Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation. 16162432 2005