SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Disease: Homocystinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.020 AlteredExpression disease BEFREE Direct inhibition of the activity of AT-III and coagulation factor VIII and other factors by homocysteine was attempted in vitro but could not be shown at HC concentrations known to occur in the plasma of HOCY patients. 7893924 1994
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.020 Biomarker disease BEFREE These data suggest that, in addition to platelet activation, abnormalities of blood clotting, and particularly reduction of antithrombin III, may play a role in the thrombotic tendency associated with homocystinuria. 3783325 1986