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: 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: 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group 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: 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: 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
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: 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: 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