ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Homocystinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.010 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