Intellectual Disability
|
0.310 |
GeneticVariation
|
group |
BEFREE |
Thus, ACTL6A gene mutation analysis should be considered in patients with intellectual disability, learning disabilities, or developmental language disorder.
|
28649782 |
2017 |
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 |
|
|
|
Intellectual Disability
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Thus, ACTL6A gene mutation analysis should be considered in patients with intellectual disability, learning disabilities, or developmental language disorder.
|
28649782 |
2017 |
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 |
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 |
Neoplasm Metastasis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Mechanistically, ACTL6A promotes metastasis and EMT through activating Notch signaling.
|
26698646 |
2016 |
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 |
Neoplasm Metastasis
|
0.030 |
Biomarker
|
phenotype |
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 |
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 |
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
However, the roles of ACTL6A in the development of ovarian cancer and the regulation of cancer glucose metabolism are mostly unknown.
|
31649264 |
2019 |
Glioma
|
0.020 |
Biomarker
|
disease |
BEFREE |
ACTL6A promotes malignant behaviors of glioma cells in vitro and in orthotopic xenograft model.
|
29725063 |
2018 |
Glioma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Therefore, BAF53a could be a potential promising biomarker and a target for the treatment of glioma.
|
29039584 |
2017 |