Source: CLINVAR

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: 5528
Gene Symbol: PPP2R5D
PPP2R5D 		protein phosphatase 2 regulatory subunit B'delta 0.722 0.462 1.00
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype 0.100 None 0 1