UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: Cerebral dysfunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction 		0.010 GeneticVariation disease BEFREE Both Parkin and UBE3A are E3 ubiquitin ligases whose mutations result in severe brain dysfunction. 29693004 2018