ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: Autosomal dominant macrothrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.320 GeneticVariation disease BEFREE Mutations in ACTN1, the gene encoding the actin-crosslinking protein α-actinin-1, cause autosomal dominant macrothrombocytopenia. 26453073 2016
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.320 GermlineCausalMutation disease ORPHANET ACTN1 mutations cause congenital macrothrombocytopenia. 23434115 2013
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.320 GeneticVariation disease BEFREE A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. 24069336 2013