Atrial Septal Defects
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
Hernia, Inguinal
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Umbilical hernia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Syncope
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Torticollis
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Broad nasal tip
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Broad thumbs
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Delayed speech and language development
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Recurrent otitis media
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Coarse facial features
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Aplasia/Hypoplasia of the nails
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Cleft anterior mitral valve leaflet
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Acid reflux
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
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 |
Glioma
|
0.020 |
Biomarker
|
disease |
BEFREE |
ACTL6A promotes malignant behaviors of glioma cells in vitro and in orthotopic xenograft model.
|
29725063 |
2018 |
Tumor Cell Invasion
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
ACTL6A overexpression promoted migration and invasion of colon cancer cells, whereas ACTL6A knockdown exhibited the opposite effect in vitro.
|
30348114 |
2018 |
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 |
Neoplasm Metastasis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
ACTL6A-overexpression and ACTL6A-knockdown colon cancer cells were used to perform cytological experiments to explore the potential biological function of ACTL6A in metastasis and EMT in colon cancer.
|
30348114 |
2018 |
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 |
Tumor Cell Invasion
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Both in vitro and in vivo assays showed that ACTL6A overexpression promoted osteosarcoma cell invasion and metastasis, whereas knockdown of ACTL6A expression reduced osteosarcoma cell malignant behavior such as invasion and metastasis.
|
28260090 |
2017 |
Carcinogenesis
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Ectopic ACTL6A/p63 expression promotes tumorigenesis, while ACTL6A expression and YAP activation are highly correlated in primary HNSCC and predict poor patient survival.
|
28041841 |
2017 |
Tumor Cell Invasion
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Further functional analysis indicated that BAF53a overexpression could promote proliferation and increase the motility and invasion of U87 glioma cells, whereas BAF53a knockdown had the opposite effect.
|
29039584 |
2017 |
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 |
Developmental delay (disorder)
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
|
28649782 |
2017 |
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 |