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: 2811
Gene Symbol: GP1BA
GP1BA 		glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease 1.000 None 1.000 0 1 1990 2020