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 A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. 19552682 2009
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 Biomarker disease CLINGEN The contribution of glycoprotein VI to stable platelet adhesion and thrombus formation illustrated by targeted gene deletion. 12738669 2003
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. 19552682 2009
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 CLINGEN A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. 19552682 2009
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 Biomarker disease CTD_human
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: 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: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 Biomarker disease CLINGEN A crucial role of glycoprotein VI for platelet recruitment to the injured arterial wall in vivo. 12515812 2003
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease BEFREE We investigated whether polymorphic variation at the GP VI locus confers an increased risk of myocardial infarction (MI). 11571236 2001
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 AlteredExpression disease BEFREE Platelet GPVI surface expression is enhanced following acute ischemic events like myocardial infarction and cerebral stroke, serves as an imminent diagnostic tool independent of markers of tissue necrosis, and is associated with poor prognosis. 27753514 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease BEFREE A significant association between GP VI 13254C allele carriers and premature MI was found (p=0.025). 19786296 2010
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease BEFREE The GPIa C807T dimorphism associated with platelet collagen receptor density is not a risk factor for myocardial infarction. 10468872 1999
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 Biomarker disease BEFREE Our preliminary data suggests that platelet collagen receptor density, when measured directly, may be related to prior myocardial infarction. 15874887 2005
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease BEFREE The combined ThrThr/TT haplotype of GPIbalpha as well as the AA genotype of GPIV seem to decrease the risk of fatal MI among men during early middle-age. 17619827 2008
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease BEFREE We studied the association of the GPVI T13254C with fatal myocardial infarction (MI) and coronary artery disease among the 300 men of the Helsinki Sudden Death Study (HSDS). 15306180 2004
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 AlteredExpression disease BEFREE Increased GPVI levels are associated with poor clinical outcome and are an early indicator for imminent myocardial infarction in patients with chest pain. 24553806 2014
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease BEFREE The impact of platelet collagen receptor polymorphisms in the pathogenesis of myocardial infarction at young age remains unknown. 22627583 2012
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.050 Biomarker disease BEFREE The aim of our study was to evaluate GP6 gene in patients with sticky platelet syndrome (SPS) and fetal loss. 30278775 2018
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.050 GeneticVariation disease BEFREE The objectives of the present study were to assess the genetic variability of the GP6 gene in patients with platelet hyperaggregability phenotype, known as sticky platelet syndrome (SPS) manifesting as deep vein thrombosis (DVT), and/or pulmonary embolism, and in controls; and to evaluate its role in the pathogenesis of venous thromboembolism (VTE) in SPS. 22821001 2012
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.050 GeneticVariation disease BEFREE The aim of the study was to examine the genetic linkage of this selected risk haplotype with single nucleotide variations (SNVs) in the coding sequence of the GP6 gene in order to identify possible functional SNVs in association with SPS and fetal loss. 28041267 2018