Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 Biomarker group BEFREE Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder caused by a defect in the platelet glycoprotein (GP) Ib/IX complex. 23143686 2012
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 GeneticVariation group BEFREE Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder caused by a defect in the platelet glycoprotein (GP) Ib-IX-V complex. 22044935 2012
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 Biomarker group BEFREE von Willebrand disease (VWD) is a most common inherited bleeding disorder. von Willebrand factor (VWF) exists as an extracellular adaptor molecule and generally involves in the hemostasis mechanism through binding with GP (Glycoprotein) Ib-IX-V platelet receptor. 19959486 2010
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 Biomarker group BEFREE Bernard-Soulier syndrome (BSS) is a severe inherited bleeding disorder that is caused by a defect in glycoprotein (GP)Ib-IX-V complex, the platelet membrane receptor for von Willebrand factor. 17083647 2007
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 GeneticVariation group BEFREE Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. 15609295 2005
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 GeneticVariation group BEFREE Bernard-Soulier Syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. 12463594 2002
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 GeneticVariation group BEFREE Bernard Soulier Syndrome (BSS) is a rare inherited bleeding disorder caused by a defect in the glycoprotein (GP)Ib/IX/V complex. 11297032 2001
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 GeneticVariation group BEFREE Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. 10928480 2000
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.090 GeneticVariation group BEFREE Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. 10583255 1999