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: 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 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 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 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 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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 GeneticVariation phenotype BEFREE To decipher the spectrum of variants and phenotype of ACTN1-related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. 31237726 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 GeneticVariation phenotype BEFREE Moreover, it is worth mentioning data on hypomorphic mutations of FLI1 and the association of single nucleotide polymorphisms, such as that identified in ACTN1, with thrombocytopenia. 27438527 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 Biomarker phenotype 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
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 GeneticVariation phenotype BEFREE In the last 5 years, nine new genes whose mutations are responsible for thrombocytopenia have been identified, and this also led to the recognition of several novel nosographic entities, such as thrombocytopenias deriving from mutations in CYCS, TUBB1, FLNA, ITGA2B/ITGB3, ANKRD26 and ACTN1. 23636669 2013
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 Biomarker phenotype BEFREE ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia. 28562514 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 Biomarker phenotype BEFREE Alterations of ACTN1, the gene encoding for α-actinin 1, have recently been identified in a few families as being responsible for a mild form of IT (ACTN1-related thrombocytopenia; ACTN1-RT). 25361813 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.170 Biomarker phenotype BEFREE In this issue of Blood, Bottega et al document mutations in ACTN1, which encodes the cytoskeletal protein α-actinin 1, in 10 of 239 consecutive probands with an inherited thrombocytopenia--making ACTN1 an important cause of familial thrombocytopenia. 25634615 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
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE Depletion of either α-actinin-1 or -4 inhibited breast cancer cell migration. 24662836 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Intravenous delivery of CTNNA1 siRNA with CA nanoparticles significantly reduced tumor volume in the initial phase of the study, while siRNAs targeting CTNNB1, TLN1, VCL, PXN, and ACTN1 genes significantly decreased the tumor burden at all time points. 31269666 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE The modulatory networks of NF-κB/RelA in the context epithelial-mesenchymal transition (EMT) and burn injury have different modulators, including those involved in extracellular matrix (FBN1), cytoskeletal regulation (ACTN1), and metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), a long intergenic nonprotein coding RNA, and tumor suppression (FOXP1) for EMT, and TXNIP, GAPDH, PKM2, IFIT5, LDHA, NID1, and TPP1 for burn injury. 25844669 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 Biomarker phenotype BEFREE It shares 86% protein similarity with α-actinin-1, another non-muscle ACTN isoform, which appears to have a more modest role, if any, in cancer progression. 28579451 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 AlteredExpression phenotype BEFREE Their less responsive sister paralogs-myosin IIB (MYH10), α-actinin 1, and filamin A-had lower expression differential or disappeared with cancer progression. 31358530 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 Biomarker disease BEFREE Depletion of either α-actinin-1 or -4 inhibited breast cancer cell migration. 24662836 2015