ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 GeneticVariation disease BEFREE Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura. 30124235 2018