Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
0.110 Biomarker disease HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
0.110 GeneticVariation disease BEFREE We conclude that UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome characterized by distinct craniofacial features, hypotonia, failure to thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability. 24615390 2014