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: 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: 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: C1261473
Disease: Sarcoma
Sarcoma
0.010 Biomarker group BEFREE Sarcoma family kinases (SFK) play central role in the GPVI-induced signaling pathway. 31683623 2019
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.010 Biomarker group BEFREE Sarcoma family kinases (SFK) play central role in the GPVI-induced signaling pathway. 31683623 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 AlteredExpression group BEFREE GPVI and alpha 2 beta 1 levels were found to be significantly decreased on platelets from patients with myeloproliferative disorders (MPDs). 12829582 2003
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 GeneticVariation disease LHGDN GPVI may be a platelet surface ligand for HCV playing a role in viral transport and persistence. 16847120 2006
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.040 Biomarker disease BEFREE GPVI (Glycoprotein VI) is the essential platelet collagen receptor in atherothrombosis. 28751543 2017
CUI: C0333209
Disease: Platelet thrombus
Platelet thrombus
0.020 Biomarker disease BEFREE GPVI-CD39 effectively stimulated local ADP degradation and, compared with GPVI-Fc alone, led to significantly increased inhibition of ADP-, collagen-, and human plaque-induced platelet aggregation in Multiplate aggregometry and plaque-induced platelet thrombus formation under arterial flow conditions. 28751543 2017
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.040 Biomarker disease BEFREE Platelet glycoprotein VI (GPVI) acts as a decisive collagen receptor in atherothrombosis. 29378359 2018
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: 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 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 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 CLINGEN A crucial role of glycoprotein VI for platelet recruitment to the injured arterial wall in vivo. 12515812 2003
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: 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: 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