Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease 1.000 definitive 0.967 8 0 1997 2020