GP1BB, glycoprotein Ib platelet subunit beta, 2812

N. diseases: 192; N. variants: 7
Disease: Bernard-Soulier Syndrome ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 1.000 definitive 1.000 25 3 1988 2019