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: C3714756
Disease: Intellectual Disability
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
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C0424605
Disease: Developmental delay (disorder)
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
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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation group CLINVAR
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0039070
Disease: Syncope
Syncope 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		0.100 GeneticVariation disease CLINVAR
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4023295
Disease: Cleft anterior mitral valve leaflet
Cleft anterior mitral valve leaflet 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0027627
Disease: Neoplasm Metastasis
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
CUI: C1269955
Disease: Tumor Cell Invasion
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
CUI: C0027627
Disease: Neoplasm Metastasis
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
CUI: C1269955
Disease: Tumor Cell Invasion
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
CUI: C1269955
Disease: Tumor Cell Invasion
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
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Mechanistically, ACTL6A promotes metastasis and EMT through activating Notch signaling. 26698646 2016
CUI: C0006826
Disease: Malignant Neoplasms
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