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 (BSS) is a hereditary macrothrombocytopenia caused by defects in the glycoprotein (GP) Ib-IX-V complex. 31352676 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease GWASCAT Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. 28470677 2017
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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE pRb2/p130 is a key tumor suppressor, whose oncosuppressive activity has mainly been attributed to its ability to negatively regulate cell cycle by interacting with the E2F4 and E2F5 transcription factors. 25205458 2015
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 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: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 AlteredExpression disease BEFREE Platelets from BSS patients are typically defective in surface expression of glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbα disulfide linked to GPIbβ, and noncovalently associated with GPIX and GPV. 23929303 2013
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 Biomarker disease BEFREE The hallmark of BSS is an abnormal platelet attachment to the vessel wall due to reduced or abnormal glycoprotein Ib/IX/V complex. 22343686 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-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: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease GWASDB A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. 22142827 2012
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease GWASCAT A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. 22142827 2012
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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The RB (pRb2/p16) and p53 (p14/p53/p21) tumor-suppressor pathways in endemic Burkitt lymphoma. 21127431 2011
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 Our results support the hypothesis that platelet GP Ib-IX functions that support normal hemostasis or pathologic thrombosis also contribute to tumor malignancy. 17494758 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The retinoblastoma family members--pRb, pRb2/p130 and p107--are tumor suppressor genes involved in controlling four major cellular processes: growth arrest, apoptosis, differentiation and angiogenesis. 16936751 2006
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 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE A careful analysis of pRb2/p130 expression in tumor specimens could help to identify the best clinical protocol to be used for each patient, improving efficacy and tolerance and therefore offering additional progress in the treatment of advanced ovarian cancer. 15585644 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Immunohistochemical analysis revealed loss or decrease of pRb2/p130 expression in 18 cases (40%). pRb2/p130 expression was mostly nuclear and inversely correlated to the tumor grade (P < 0.05). 15131049 2004
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
0.100 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
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 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The survival rate of patients with esophageal SCCs expressing pRb2/p130 was significantly better than that of patients with tumors without pRb2/p130 expression (P= 0.016). 12474056 2002