ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: Macrocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085662
Disease: Macrocytosis
Macrocytosis 		0.010 Biomarker disease BEFREE We concluded that ACTN1-RT is the fourth most frequent form of IT worldwide and it is characterized by platelet macrocytosis in all affected subjects and mild thrombocytopenia in less than 80% of cases. 30351444 2018