GP6, glycoprotein VI platelet, 51206

N. diseases: 89; N. variants: 11
Disease: Glycoprotein VI deficiency ×
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 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 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 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 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 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: 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: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.600 Biomarker disease CTD_human