UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: Duplication 15q11-q13 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675336
Disease: Duplication 15q11-q13 Syndrome
Duplication 15q11-q13 Syndrome 		0.300 ChromosomalRearrangement disease ORPHANET 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337 2015