UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
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 		0.030 Biomarker disease BEFREE 15q11.2-q13.1 includes the gene UBE3A which is believed to underlie ASD observed in Dup15q syndrome. 30787400 2019
CUI: C0795858
Disease: Chromosome 15q, trisomy
Chromosome 15q, trisomy 		0.030 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
CUI: C0795858
Disease: Chromosome 15q, trisomy
Chromosome 15q, trisomy 		0.030 Biomarker disease BEFREE The identification of UBE3A targets is the first step in unraveling the molecular etiology of AS and duplication 15q autism. 23626758 2013