Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Von Willebrand disease, platelet type
0.060 Biomarker disease BEFREE Platelet-type von Willebrand disease (vWD) is a congenital bleeding disorder characterized by heightened ristocetin-induced platelet aggregation caused by abnormally high affinity between the platelet membrane glycoprotein (GP) Ib/IX complex and von Willebrand factor (vWF). 9226170 1997
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 a qualitative or quantitative abnormality of the platelet glycoprotein (GP) Ib/IX/V complex. 9432024 1997
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.080 Biomarker disease BEFREE pRb2/p130: a new candidate for retinoblastoma tumor formation. 16936755 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.070 Biomarker group BEFREE pRb2/p130, a member of the Retinoblastoma gene family, has been shown to be a powerful prognostic factor in several malignancies. 18676747 2008
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 Biomarker disease BEFREE pRb2/p130 localizes to the cytoplasm in diffuse gastric cancer. 25205458 2015
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 Biomarker disease BEFREE pRb2/p130 localizes to the cytoplasm in diffuse gastric cancer. 25205458 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: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A
0.020 GeneticVariation disease BEFREE C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX. 14755371 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: 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: 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: 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
Von Willebrand disease, platelet type
0.060 GeneticVariation disease BEFREE A limited number of mutations within the glycoprotein Ib-IX complex have been described that permit a structurally altered receptor to interact with soluble von Willebrand factor, and this is the molecular basis of platelet-type von Willebrand disease. 18187573 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 AlteredExpression phenotype BEFREE A multivariate analysis demonstrated that pRb2/p130 expression (P= 0.026), venous invasion (P= 0.028), and TNM stage (P= 0.044) were independent prognostic indicators in patients with esophageal SCCs. 12474056 2002
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.040 Biomarker disease BEFREE A scope for this review is to examine some of the gene delivery systems mostly used, discussing their weaknesses and strengths, and to discuss the role of pRb2/p130 in lung cancer. 10741694 2000
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.030 Biomarker disease BEFREE A scope for this review is to examine some of the gene delivery systems mostly used, discussing their weaknesses and strengths, and to discuss the role of pRb2/p130 in lung cancer. 10741694 2000
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.030 Biomarker disease BEFREE A scope for this review is to examine some of the gene delivery systems mostly used, discussing their weaknesses and strengths, and to discuss the role of pRb2/p130 in lung cancer. 10741694 2000
Von Willebrand disease, platelet type
0.060 Biomarker disease BEFREE Although the platelet glycoprotein (GP) Ib/IX complex is known to constitute the platelet's ristocetin-dependent receptor for vWF, a unique structural abnormality within this complex has not previously been identified in PT-vWD. 2052556 1991
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Among the three family members, the retinoblastoma-related gene product pRb2/p130 is a tumor suppressor gene and an effective candidate target for gene therapy approach. 11029489 2000
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: 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
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.030 GeneticVariation phenotype 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: 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