PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: Chromosome 15q, trisomy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795858
Disease: Chromosome 15q, trisomy
Chromosome 15q, trisomy 		0.010 GeneticVariation disease BEFREE Additional copies of the E3 ubiquitin ligase UBE3A are thought to cause Dup15q phenotypes, yet models overexpressing UBE3A in neurons have not recapitulated the epilepsy phenotype. 28888970 2017