ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: Macrothrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease BEFREE Investigation of calmodulin-like and rod domain mutations suggests common molecular mechanism for α-actinin-1-linked congenital macrothrombocytopenia. 31365757 2020
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 GeneticVariation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 CausalMutation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease BEFREE The ACTN1 gene has been implicated in inherited macrothrombocytopenia. 31237726 2019
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 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
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease BEFREE ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia. 28562514 2017
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease BEFREE Our findings suggest a novel mechanism for the pathogenesis of ACTN1-related macrothrombocytopenia that does not involve functional domain mutations. 26453073 2016
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease BEFREE The clinical and laboratory findings of 31 affected individuals confirmed that ACTN1-RT is a mild macrothrombocytopenia with low risk for bleeding. 25361813 2015
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 GeneticVariation disease BEFREE Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency. 23434115 2013
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 GeneticVariation disease BEFREE Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree. 24069336 2013
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease GENOMICS_ENGLAND
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.480 Biomarker disease GENOMICS_ENGLAND