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 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: 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 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 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 GeneticVariation disease BEFREE The impact of platelet collagen receptor polymorphisms in the pathogenesis of myocardial infarction at young age remains unknown. 22627583 2012
CUI: C0032176
Disease: Platelet aggregation
Platelet aggregation 		0.100 GeneticVariation phenotype GWASDB Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. 20526338 2010
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.060 GeneticVariation group BEFREE A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. 19552682 2009
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
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.050 GeneticVariation disease BEFREE We found a higher occurrence of three SNPs of the GP6 gene in SPS patients versus control subjects (rs1671153: 0.204 vs. 0.048, odds ratio [OR] 5.116, 95% confidence interval [CI] 1.536-17.03; rs1654419: 0.204 vs. 0.071, OR 3.326, 95% CI 1.149-9.619; rs1613662: 0.204 vs. 0.071, OR 3.326, 95% CI 1.149-9.619). 22901851 2012
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		0.050 GeneticVariation disease BEFREE Our results, especially higher occurrence of four haplotypes in SPS patients, can support an idea that variability of the GP6 gene may be associated with the platelet hyperaggregability in SPS. 23168074 2012
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.050 GeneticVariation disease BEFREE Ischaemic strokes and homozygosity for the alpha2 807T allele of the platelet collagen receptor in young monozygotic twins. 12544734 2003
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.050 GeneticVariation disease BEFREE The prevalence of the platelet glycoprotein VI polymorphisms in patients with sticky platelet syndrome and ischemic stroke. 23168074 2012
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.050 GeneticVariation disease BEFREE We conducted a case-control study involving 180 stroke patients and 172 controls to determine whether the alpha2 C807T and GPVI Q317L polymorphisms were associated with an increased risk of ischemic stroke. 12871362 2003
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		0.050 GeneticVariation disease BEFREE We found a higher occurrence of three SNPs of the GP6 gene in SPS patients versus control subjects (rs1671153: 0.204 vs. 0.048, odds ratio [OR] 5.116, 95% confidence interval [CI] 1.536-17.03; rs1654419: 0.204 vs. 0.071, OR 3.326, 95% CI 1.149-9.619; rs1613662: 0.204 vs. 0.071, OR 3.326, 95% CI 1.149-9.619). 22901851 2012
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		0.050 GeneticVariation disease BEFREE Our results, especially higher occurrence of four haplotypes in SPS patients, can support an idea that variability of the GP6 gene may be associated with the platelet hyperaggregability in SPS. 23168074 2012
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA 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