UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR The neurobehavioral and molecular phenotype of Angelman Syndrome. 26219744 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Angelman syndrome: review of clinical and molecular aspects. 24876791 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Molecular and Clinical Aspects of Angelman Syndrome. 22670133 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 19213023 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. 17940072 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Are there distinctive sleep problems in Angelman syndrome? 17765640 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Angelman syndrome 2005: updated consensus for diagnostic criteria. 16470747 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. 15263005 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR UBE3A/E6-AP mutations cause Angelman syndrome. 8988171 1997
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781 1990