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: C0026848
Disease: Myopathy
Myopathy 		0.010 Biomarker group BEFREE Taken together, our data highlight the importance for Cullin-3 mediated degradation of ACTN1 for muscle development, and indicate a new pathomechanism for the etiology of myopathies seen in Cullin-3 knockout mice and nemaline myopathy patients. 30990797 2019
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.010 Biomarker disease BEFREE Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy. 30990797 2019
CUI: C0085662
Disease: Macrocytosis
Macrocytosis 		0.010 Biomarker disease 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: 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
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		0.010 AlteredExpression disease BEFREE Downregulation of α-actinin-1 in E-cadherin expressing basal-like breast cancer cells demonstrate that α-actinin-1-assembled actin fibers destabilize E-cadherin-based adhesions. 29742177 2018
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 Biomarker disease BEFREE Furthermore, ACTN1 and VCL may play roles in bladder cancer development, partly via the focal adhesion pathway. 28552713 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 Biomarker disease BEFREE Furthermore, ACTN1 and VCL may play roles in bladder cancer development, partly via the focal adhesion pathway. 28552713 2017
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 Biomarker disease BEFREE Furthermore, ACTN1 and VCL may play roles in bladder cancer development, partly via the focal adhesion pathway. 28552713 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Altogether, our results suggest that ZYX defective binding to ACTN4, which occupies focal adhesions instead of ACTN1, induces the formation of immature focal adhesions, resulting in the enhancement of cell motility and invasion. 25860875 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 Biomarker disease BEFREE Future research on ACTN1 may help to improve the current therapeutic and diagnostic strategies of RA. 24534470 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 Biomarker disease BEFREE Recently we demonstrated that α-actinin-1 (ACTN1) gene is significantly increased in synovial tissues obtained from RA, as compared to osteoarthritis (OA). 24534470 2014
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 GeneticVariation group 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: C1701940
Disease: Pneumonia, Ventilator-Associated
Pneumonia, Ventilator-Associated 		0.010 Biomarker disease BEFREE We identified and validated a limited proteomic signature that discriminated VAP(+) from VAP(-) patients comprised of three proteins: S100A8, lactotransferrin (LTF), and actinin 1 (ACTN1). 23505561 2013
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE Collectively, these findings suggest that alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells. 20156433 2010
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.010 Biomarker disease BEFREE Collectively, these findings suggest that alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells. 20156433 2010
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 AlteredExpression disease LHGDN The cytoskeletal proteins alpha-actinin, Ezrin, and talin are De-expressed in endometriosis and endometrioid carcinoma compared with normal uterine epithelium. 17525629 2007
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		0.010 AlteredExpression disease LHGDN The cytoskeletal proteins alpha-actinin, Ezrin, and talin are De-expressed in endometriosis and endometrioid carcinoma compared with normal uterine epithelium. 17525629 2007
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: 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: 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: 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: 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: 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 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: 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