Disease: Macrothrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.030 Biomarker disease BEFREE Bernard-Soulier syndrome (BSS) is a hereditary macrothrombocytopenia caused by defects in the glycoprotein (GP) Ib-IX-V complex. 31352676 2019
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.030 Biomarker disease BEFREE A defective platelet glycoprotein (GP) Ib/IX/V complex [von Willebrand factor (VWF) receptor] results in Bernard-Soulier syndrome (BSS), which is characterized by macrothrombocytopenia and impaired ristocetin- and thrombin-induced platelet aggregation. 23414566 2013
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.030 Biomarker disease BEFREE An absent platelet glycoprotein (GP) Ib-IX receptor results in the Bernard-Soulier syndrome and is characterized by severe bleeding and the laboratory presentation of macrothrombocytopenia. 12200373 2002