MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
|
30718926 |
2019 |
Schizophrenia
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
In the present study, three polymorphisms (rs6943555, rs7459368, and rs9886351) in the AUTS2 gene were genotyped in 410 patients with SCZ and 435 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and forced PCR-RFLP methods.
|
25347278 |
2014 |
Autistic Disorder
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
Autistic Disorder
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genomic rearrangements involving AUTS2 (7q11.22) are associated with autism and intellectual disability (ID), although evidence for causality is limited.
|
23332918 |
2013 |
Autistic Disorder
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The newly identified interacting genes include AUTS2, mutations of which are associated with autism and intellectual disabilities.
|
24265791 |
2013 |
Autistic Disorder
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AUTS2 are associated with autism, intellectual disability, and microcephaly.
|
30953002 |
2019 |
Autistic Disorder
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The autism susceptibility candidate 2 (AUTS2) gene has been reported to be associated with autism, suicide, alcohol consumption, and heroin dependence.
|
25347278 |
2014 |
Autistic Disorder
|
0.200 |
GeneticVariation
|
disease |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Global developmental delay
|
0.130 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Microcephaly
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AUTS2 are associated with autism, intellectual disability, and microcephaly.
|
30953002 |
2019 |
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 |
Flatfoot
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
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 |
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 |