UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 Biomarker phenotype 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 GeneticVariation phenotype 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 GeneticVariation phenotype 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 GeneticVariation phenotype CLINVAR
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 CausalMutation phenotype CLINVAR