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 Biomarker disease CTD_human
CUI: C0013491
Disease: Ecchymosis
Ecchymosis 		0.100 Biomarker phenotype HPO
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker phenotype HPO
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.100 Biomarker phenotype HPO
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		0.100 Biomarker phenotype HPO
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE A monoclonal antibody to GPIV alone inhibited tumor cell attachment to the heparin-domainless 140-kDa TSP fragment. 1703153 1991
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 Biomarker disease BEFREE HT1080 fibrosarcoma and C32 melanoma cells utilize GPIV in concert with a heparin-modulated binding systems to attach and spread on TSP. 1703153 1991
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 Biomarker disease BEFREE HT1080 fibrosarcoma and C32 melanoma cells utilize GPIV in concert with a heparin-modulated binding systems to attach and spread on TSP. 1703153 1991
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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.040 GeneticVariation group BEFREE Large epidemiological studies should prove whether the platelet collagen receptor GPIa-IIa T807 allele is an independent risk factor for the development of stroke in younger patients. 10339462 1999
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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.040 GeneticVariation disease BEFREE Our findings indicate that the A1648G polymorphism of the platelet collagen receptor plays a role in CAD in well defined patient groups. 10744142 2000
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 AlteredExpression phenotype BEFREE The expression level of this platelet collagen receptor may play a central role in the rapidly evolving coronary artery lesions that lead to malignant arrhythmia and sudden cardiac death. 10822074 2000
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 Biomarker group BEFREE In contrast, there was a two-fold increase of platelet GPIb and GPIIb RNA and a three-fold increase of GPIV RNA among MDS patients. 11053613 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: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.010 GeneticVariation disease BEFREE The alpha2 Gene alleles of the platelet collagen receptor integrin alpha2 beta1 in Turkish children with cerebral infarct. 11323022 2001
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 Biomarker disease CLINGEN A crucial role of glycoprotein VI for platelet recruitment to the injured arterial wall in vivo. 12515812 2003
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 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: C0011847
Disease: Diabetes
Diabetes 		0.030 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.030 GeneticVariation group 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: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.020 Biomarker disease BEFREE The BglII gene polymorphism of the alpha2beta1 integrin, which is a platelet collagen receptor, has been suggested as a genetic risk factor for diabetic retinopathy in Japanese subjects. 12938014 2003