SVIL, supervillin, 6840

N. diseases: 15; N. variants: 13
Disease: Platelet thrombus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333209
Disease: Platelet thrombus
Platelet thrombus 		0.010 AlteredExpression disease BEFREE We show for the first time that (1) platelets contain supervillin; (2) platelet thrombus formation in the PFA-100 is associated with human SVIL variants and low SVIL expression; and (3) murine platelets lacking supervillin exhibit enhanced platelet thrombus formation at high shear stress. 22550155 2012