MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
0.800 |
Biomarker
|
disease |
MGD |
Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis.
|
25533347 |
2014 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
0.800 |
Biomarker
|
disease |
MGD |
Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory.
|
26717414 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
|
23332918 |
2013 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
Biomarker
|
disease |
CTD_human |
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
|
30718926 |
2019 |
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 |
Schizophrenia
|
0.310 |
Biomarker
|
disease |
PSYGENET |
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 |
Schizophrenia
|
0.310 |
Biomarker
|
disease |
PSYGENET |
One of the de novo CNVs involved Auts2 (autism susceptibility candidate 2), and other CNVs included genes linked to schizophrenia, autism and brain development.
|
22832608 |
2011 |
Burkitt Lymphoma
|
0.300 |
FusionGene
|
disease |
ORPHANET |
PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia.
|
22578776 |
2012 |
Epilepsy
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
|
20502679 |
2010 |
Epilepsy, Cryptogenic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
|
20502679 |
2010 |
Awakening Epilepsy
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
|
20502679 |
2010 |
Precursor B-cell lymphoblastic leukemia
|
0.300 |
FusionGene
|
disease |
ORPHANET |
PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia.
|
22578776 |
2012 |
AUTISM, SUSCEPTIBILITY TO, 15
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
|
23332918 |
2013 |
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 |
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 |
Autistic Disorder
|
0.200 |
Biomarker
|
disease |
BEFREE |
Function and regulation of AUTS2, a gene implicated in autism and human evolution.
|
23349641 |
2013 |
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 |
Biomarker
|
disease |
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 |
Autistic Disorder
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AUTS2 are associated with autism, intellectual disability, and microcephaly.
|
30953002 |
2019 |