UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: Cerebral cortex myoclonus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3698239
Disease: Cerebral cortex myoclonus
Cerebral cortex myoclonus 		0.010 GeneticVariation disease BEFREE Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations. 24796722 2015