GP6, glycoprotein VI platelet, 51206

N. diseases: 89; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 GermlineCausalMutation disease ORPHANET Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 19549989 2009
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 Biomarker disease CLINGEN Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 19549989 2009
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 Biomarker disease GENOMICS_ENGLAND Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 19549989 2009
CUI: C0036690
Disease: Septicemia
Septicemia 		0.030 GeneticVariation disease BEFREE Additionally, patients admitted to a paediatric intensive care unit (ICU) (<i>n</i> = 73) with an initial diagnosis of sepsis were recruited and their GPVI haplotypes determined. 30597490 2019
CUI: C0243026
Disease: Sepsis
Sepsis 		0.030 GeneticVariation disease BEFREE Additionally, patients admitted to a paediatric intensive care unit (ICU) (<i>n</i> = 73) with an initial diagnosis of sepsis were recruited and their GPVI haplotypes determined. 30597490 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 Biomarker disease BEFREE Also, treatment of mice undergoing experimental myocardial infarction with αCD133-GPVI-labeled progenitor cells reduces infarction size and preserves myocardial function. 22448969 2012
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.060 Biomarker group BEFREE Although Btk plays an important role in platelet signalling, increased bleeding tendency in patients on ibrutinib is more complex than Btk inhibition alone and is because of several antiplatelet mechanisms, namely inhibition of Btk and Tec kinases, which play a key role in platelet activation downstream of the collagen GPVI and Glycoprotein Ib. 29995658 2018
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 Biomarker disease CLINGEN An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families. 23815599 2013
CUI: C0398636
Disease: Acquired platelet disorder
Acquired platelet disorder 		0.010 Biomarker disease BEFREE Anti-GPVI-associated ITP: an acquired platelet disorder caused by autoantibody-mediated clearance of the GPVI/FcRgamma-chain complex from the human platelet surface. 15150079 2004
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE Because CD40L is a potent platelet-derived cytokine that is involved in thrombosis and atherosclerosis, we evaluated the effect of GPVI-mediated release of CD40L on activation of endothelial cells. 15277394 2004
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE Because CD40L is a potent platelet-derived cytokine that is involved in thrombosis and atherosclerosis, we evaluated the effect of GPVI-mediated release of CD40L on activation of endothelial cells. 15277394 2004
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 Biomarker disease CLINGEN Cloning, characterization, and functional studies of human and mouse glycoprotein VI: a platelet-specific collagen receptor from the immunoglobulin superfamily. 10961879 2000
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.060 Biomarker group BEFREE Collagen III has two major hemostasis domains, with binding motifs for von Willebrand factor, α2β1 integrin, platelet binding octapeptide and glycoprotein VI, consistent with the bleeding tendency observed with COL3A1 disease-causing sequence variants. 28704418 2017
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.060 Biomarker group BEFREE Complete or partial deficiency of GPVI in humans is a rare condition presenting as a mild bleeding disorder. 23815599 2013
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.020 AlteredExpression disease BEFREE Considering the recent suggestion that platelet membrane glycoprotein polymorphisms (PltGPs) may play a role as modulators of thromboembolic or haemorrhagic diseases, we investigated the role of different PltGPs and GPVI content in the clinical expression of patients with VWD type 1.The diagnosis of VWD (n = 76) was based on laboratory findings (VWF:Ag, VWF:RCo, VWF:CB, FVIII:C, and multimer analysis), family and personal history of bleeding. 14652648 2003
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.030 GeneticVariation group BEFREE Contradictory results have been published on the effects of T13254C (rs1613662), which distinguishes the two major isoforms of GP6, the gene encoding the platelet receptor glycoprotein VI, on platelet function and the risk of cardiovascular disease. 20723028 2010
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 AlteredExpression disease BEFREE Decreased levels of platelet-derived soluble glycoprotein VI detected prior to the first diagnosis of coronary artery disease in HIV-positive individuals. 27848272 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.040 AlteredExpression disease BEFREE Decreased levels of platelet-derived soluble glycoprotein VI detected prior to the first diagnosis of coronary artery disease in HIV-positive individuals. 27848272 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 AlteredExpression disease BEFREE Decreased levels of platelet-derived soluble glycoprotein VI detected prior to the first diagnosis of coronary artery disease in HIV-positive individuals. 27848272 2017
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.020 GeneticVariation disease BEFREE Diabetes duration may modify the association between genetic variation in the glycoprotein Ia subunit of the platelet collagen receptor and risk of severe diabetic retinopathy: a working hypothesis. 12540964 2003
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 GeneticVariation disease LHGDN Effect of genetic variations in platelet glycoproteins Ibalpha and VI on the risk for coronary heart disease events in postmenopausal women taking hormone therapy. 17105818 2007
CUI: C0011847
Disease: Diabetes
Diabetes 		0.030 AlteredExpression disease BEFREE Fc receptor expression correlated with GPVI expression and was found to be independently associated with diabetes (r = 0.529, P < 0.001). 15277394 2004
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.030 AlteredExpression group BEFREE Fc receptor expression correlated with GPVI expression and was found to be independently associated with diabetes (r = 0.529, P < 0.001). 15277394 2004
CUI: C0272285
Disease: Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia 		0.010 Biomarker disease BEFREE Finally, we present some new data investigating whether levels of the extracellular ligand-binding region of platelet glycoprotein VI which is rapidly shed upon engagement of platelet FcγRIIa by autoantibodies, can report on the presence of pathological anti-heparin/platelet factor 4 immune complexes and thus identify patients with pathological autoantibodies who are at the greatest risk of developing life-threatening thrombosis in the setting of heparin-induced thrombocytopenia. 26497525 2015