Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
0.010 GeneticVariation disease BEFREE Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. 28003643 2017