Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease BEFREE Bernard-Soulier syndrome is an uncommon bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP)Ib/IX complex. 10216092 1999
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 GeneticVariation disease BEFREE Bernard-Soulier syndrome (BSS), a rare bleeding disorder with macrothrombocytopenia, is caused by a defect of the platelet glycoprotein (GP) Ib/IX/V complex. 10227459 1999
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B
0.030 GeneticVariation disease BEFREE Type 2B von Willebrand's disease (VWD) is a variant in which the structurally abnormal von Willebrand factor (VWF) has an increased affinity for the platelet glycoprotein Ib-IX-V complex. 10233434 1999
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease 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
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease BEFREE Bernard-Soulier syndrome (BSS), a hereditary qualitative platelet disorder, is now proved to be caused by a qualitative or quantitative abnormality of the platelet glycoprotein (GP) Ib/IX/V complex. 10805283 2000
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease BEFREE Bernard-Soulier syndrome is a rare bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP) Ib-IX-V complex. 10887115 2000
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease 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: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease 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: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease BEFREE Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder caused by quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. 12447957 2002
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease 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: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease BEFREE Bernard-Soulier Syndrome (BSS) is a severe congenital platelet disorder that results from a deficiency of the platelet membrane glycoprotein (GP) Ib/IX complex that is composed of four subunits (GPIbalpha, GPIbbeta, GPIX, and GPV). 15550031 2004
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease 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: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 GeneticVariation disease 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Tumor suppressor pRb2/p130 gene and its derived product Spa310 spacer domain as perspective candidates for cancer therapy. 17708530 2007
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
0.010 Biomarker disease 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: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease BEFREE Bernard-Soulier syndrome (BSS) is an extremely rare (1:1 million) bleeding disorder of platelet adhesion, caused by defects in the glycoprotein (GP)Ib/IX/V complex. 21699652 2011
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease 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: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease 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: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B
0.030 GeneticVariation disease BEFREE von Willebrand disease type 2B (vWD-type 2B) is characterized by gain-of-function mutations in von Willebrand factor (vWF) that enhance its binding to the glycoprotein Ib-IX-V complex on platelets. 24270421 2013
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 GeneticVariation disease BEFREE Bernard-Soulier syndrome (BSS) is a congenital bleeding disorder characterised by thrombocytopenia, giant platelets and decreased platelet adhesion resulting from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. 26044173 2015
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.030 Biomarker disease BEFREE ITP patients with antiplatelet glycoprotein (GP) Ib-IX autoantibodies appear refractory to conventional treatments, and the mechanism remains elusive. 30337485 2018
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 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: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease BEFREE Bernard-Soulier syndrome is an inherited bleeding abnormality characterized by thrombocytopenia with large platelets and deficiency of the platelet membrane glycoprotein (GP) Ib-IX complex. 3345299 1988
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B
0.030 Biomarker disease BEFREE Type 2B von Willebrand disease is characterized by an abnormal von Willebrand factor molecule with increased affinity for the platelet glycoprotein (GP) Ib-IX receptor. 8701941 1996
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 GeneticVariation disease BEFREE Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder which is caused by abnormal expression or function of the glycoprotein (GP) Ib/IX/V complex, a platelet major receptor for von Willebrand factor. 8972003 1996