ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: Blood Coagulation Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 GeneticVariation group BEFREE Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency. 23434115 2013