Disease: Autistic Disorder ×
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 GeneticVariation disease BEFREE Mutations in AUTS2 are associated with autism, intellectual disability, and microcephaly. 30953002 2019
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.200 Biomarker disease BEFREE Function and regulation of AUTS2, a gene implicated in autism and human evolution. 23349641 2013
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
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