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: 5295
Gene Symbol: PIK3R1
PIK3R1 		phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		disease 0.800 definitive 0.955 14 12 2000 2019