ACTL6A, actin like 6A, 86

N. diseases: 46; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker disease GENOMICS_ENGLAND Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. 28649782 2017
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica
0.200 Biomarker disease RGD miR-9*- and miR-124a-Mediated switching of chromatin remodelling complexes is altered in rat spina bifida aperta. 23677776 2013
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
0.100 GeneticVariation disease CLINVAR
CUI: C0017638
Disease: Glioma
Glioma
0.020 Biomarker disease BEFREE ACTL6A promotes malignant behaviors of glioma cells in vitro and in orthotopic xenograft model. 29725063 2018
CUI: C0017638
Disease: Glioma
Glioma
0.020 Biomarker disease BEFREE Therefore, BAF53a could be a potential promising biomarker and a target for the treatment of glioma. 29039584 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 AlteredExpression disease BEFREE A high level of ACTL6A in HCCs is correlated with aggressive clinicopathological features and is an independent poor prognostic factor for overall and disease-free survival of HCC patients. 26698646 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE Actin-like 6A (ACTL6A) is vital for embryogenesis and differentiation and is also critical for metastasis and EMT in hepatocellular carcinoma, as observed in our previous study. 30348114 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 AlteredExpression disease BEFREE The ACTL6A expression level in fresh colon cancer specimens was also higher than that in the corresponding adjacent normal colon specimens. 30348114 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 Biomarker disease BEFREE ACTL6A Is Co-Amplified with p63 in Squamous Cell Carcinoma to Drive YAP Activation, Regenerative Proliferation, and Poor Prognosis. 28041841 2017
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.010 AlteredExpression disease BEFREE To identify the genes that may participate in the development of APL, we analyzed data from an APL cDNA microarray (GSE12662) in the NCBI database, and found that ACTL6A was up-regulated in APL patients. 30448346 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 Biomarker disease BEFREE In conclusion, data from the present study demonstrated that ACTL6A was associated with poor survival and promoted osteosarcoma cell metastasis through EMT, suggesting that ACTL6A may be a novel prognostic biomarker and therapeutic target for osteosarcoma. 28260090 2017
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.010 Biomarker disease BEFREE These results indicate that failure to downregulate the BAF53a subunit may contribute to the pathogenesis of RMS, and suggest that BAF53a may represent a novel therapeutic target for this tumor. 23728344 2014
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
0.010 Biomarker disease BEFREE These results indicate that failure to downregulate the BAF53a subunit may contribute to the pathogenesis of RMS, and suggest that BAF53a may represent a novel therapeutic target for this tumor. 23728344 2014
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia
0.010 Biomarker disease BEFREE Herein, gene expression analysis identified a significant loss of the SWI/SNF core component SMARCC1, along with ARID1B, ACTL6A, and SMARCD1, in human AA BM CD34<sup>+</sup> HSCs and hematopoietic stem and progenitor cells (HSPCs) compared with normal HSPCs. 29596882 2018
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.010 Biomarker disease BEFREE These results indicate that failure to downregulate the BAF53a subunit may contribute to the pathogenesis of RMS, and suggest that BAF53a may represent a novel therapeutic target for this tumor. 23728344 2014
Squamous cell carcinoma of esophagus
0.010 Biomarker disease BEFREE Whether SOX2 and ACTL6A/TP63 interact with the Hippo-YAP1 pathway in esophageal squamous cell carcinoma (ESCC) remains unclear. 31560173 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 AlteredExpression disease BEFREE We found that BAF53 knockdown led to suppression of expression of E6 and E7 genes from HPV integrants in cervical carcinoma cell lines HeLa and SiHa. 21821000 2011
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 AlteredExpression disease BEFREE Therefore, our results suggested that BAF53A plays an important role in the expression of AR target genes in prostate cancer, and can be used clinically for the treatment of prostate cancer. 30278885 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 Biomarker disease BEFREE In conclusion, data from the present study demonstrated that ACTL6A was associated with poor survival and promoted osteosarcoma cell metastasis through EMT, suggesting that ACTL6A may be a novel prognostic biomarker and therapeutic target for osteosarcoma. 28260090 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 AlteredExpression disease BEFREE Therefore, our results suggested that BAF53A plays an important role in the expression of AR target genes in prostate cancer, and can be used clinically for the treatment of prostate cancer. 30278885 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 AlteredExpression disease BEFREE The ACTL6A expression level in fresh colon cancer specimens was also higher than that in the corresponding adjacent normal colon specimens. 30348114 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 Biomarker disease BEFREE However, the roles of ACTL6A in the development of ovarian cancer and the regulation of cancer glucose metabolism are mostly unknown. 31649264 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE However, the roles of ACTL6A in the development of ovarian cancer and the regulation of cancer glucose metabolism are mostly unknown. 31649264 2019
Squamous cell carcinoma of the head and neck
0.010 Biomarker disease BEFREE Thus, ACTL6A and p63 collaborate as oncogenic drivers in HNSCC. 28041841 2017
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 Biomarker disease BEFREE In conclusion, data from the present study demonstrated that ACTL6A was associated with poor survival and promoted osteosarcoma cell metastasis through EMT, suggesting that ACTL6A may be a novel prognostic biomarker and therapeutic target for osteosarcoma. 28260090 2017