Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.200 Biomarker disease BEFREE Here, we review the literature regarding AUTS2, including its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways. 24008202 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.200 GeneticVariation disease BEFREE The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both carrying a translocation t(7;20)(q11.2;p11.2) (de la Barra et al. in Rev Chil Pediatr 57:549-554, 1986; Sultana et al. in Genomics 80:129-134, 2002). 17211639 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.200 Biomarker disease BEFREE Thus, although it is unlikely that AUTS2 is an autism susceptibility gene for idiopathic autism, it may be the gene responsible for the disorder in the twins studied here. 12160723 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.200 GeneticVariation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.200 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. 27075013 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Increasing evidences suggest copy number variations (CNVs) of autism susceptibility candidate gene 2 (AUTS2) are associated with a syndromic form of developmental delay and intellectual disability. 26545289 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder. 26333717 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group BEFREE The autism susceptibility candidate 2 (AUTS2) gene is suggested to play a critical role in early brain development, and its association with intellectual disability (ID), autism spectrum disorders, and other neurodevelopmental disorders (NDDs) has recently gained more attention. 24459036 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group BEFREE Genes with DNMs overlapped with genes implicated in autism (for example, AUTS2, CHD8 and MECP2) and intellectual disability (for example, HUWE1 and TRAPPC9), supporting a shared genetic etiology between these disorders. 24776741 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. 23332918 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE The newly identified interacting genes include AUTS2, mutations of which are associated with autism and intellectual disabilities. 24265791 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes, we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant mental retardation. 17211639 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE An induced pluripotent stem cell (iPSC) line was generated from human urine-derived cells of a 4 year-old boy with autism spectrum disorder(ASD) and developmental delay (DD) carrying a 830 kb de novo deletion at chromosome 7q11.22 disrupting the first exon and promoter region of AUTS2. 31505389 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE Here we report de novo exonic deletions of AUTS2 detected by chromosomal microarray analysis (CMA) in three Chinese children referred to the clinic for developmental delay, including two deletions involving only exon 6 (98.4 and 262 kb, respectively) and one deletion involving the C-terminal of AUTS2 (2147 kb). 26545289 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review. 25851617 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE Mutations in AUTS2 are associated with autism, intellectual disability, and microcephaly. 30953002 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease BEFREE Consistent with our genetic data, suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2. 23332918 2013
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.110 GeneticVariation phenotype BEFREE Here we report a 62 kb de novo deletion encompassing exon 6 of AUTS2 detected by chromosomal microarray analysis (CMA) in a 4.5 year-old female patient with severe speech and language disorder, history of tonic-clonic movements, and pes planus with eversion of the feet. 24459036 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE Such small CNVs in the Autism susceptibility candidate 2 (AUTS2) gene have been shown to be associated with seizures, ID, and ASDs. 22872102 2013
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.110 GeneticVariation disease BEFREE Nucleotide changes in the AUTS2 locus, some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, language delay, visual impairment, microcephaly, and alcohol consumption. 23349641 2013