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: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease CLINVAR
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease UNIPROT ACTN1 mutations cause congenital macrothrombocytopenia. 23434115 2013
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 Biomarker disease GENOMICS_ENGLAND Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. 25949529 2015
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 CausalMutation disease CLINVAR
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease UNIPROT A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. 24069336 2013
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 Biomarker disease CTD_human
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 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 GENOMICS_ENGLAND
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 CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
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 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 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 GENOMICS_ENGLAND
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 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 BEFREE The ACTN1 gene has been implicated in inherited macrothrombocytopenia. 31237726 2019
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
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: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 GeneticVariation disease GWASCAT Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level. 26252872 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 AlteredExpression disease BEFREE Increased expression of α-actinin-1 is particularly noted in basal-like breast cancer cell lines, and in breast cancer patients it associates with poor prognosis in basal-like subtypes. 29742177 2018