UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease BEFREE UBE3A is a gene responsible for the pathogenesis of Angelman syndrome (AS), a neurodevelopmental disorder characterized by symptoms such as intellectual disability, delayed development and severe speech impairment. 30690483 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation disease BEFREE Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. 28436452 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation disease BEFREE We present a female patient with developmental delay in whom we identified a maternally inherited 129-Kb duplication in chromosome region 15q11.2 encompassing only the UBE3A gene. 25884337 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation disease BEFREE Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A (UBE3A) mutations has been considered similar but is relatively milder than that in patients with deletion-type Angelman syndrome. 24796722 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease HPO