Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a prevalence of 1.0-2.6%. The three core symptoms of ASD are:
- impairments in reciprocal social interaction;
- communication impairments;
- presence of restricted, repetitive and stereotyped patterns of behavior, interests and activities.
Genetic factors contribute significantly to ASD. AutismKB is an evidence-based knowledgebase of ASD genetics. The current version contains 3075 genes (99 syndromic autism related genes and 3022 non-syndromic autism related genes), 4964 Copy Number Variations (CNVs) and 158 linkage regions associated with ASD by one or more of the following six experimental methods:
- Genome-Wide Association Studies (GWAS);
- Genome-wide CNV studies;
- Linkage analysis;
- Low-scale genetic association studies;
- Expression profiling;
- Other low-scale gene studies.
Based on a scoring and ranking system (More), 99 syndromic autism related genes and 109 non-syndromic autism related genes (171 genes in total) were designated as having high confidence (Core Dataset).
Click to view main datasets:
Please Cite: Xu, L.M., Li, J.R., Huang, Y., Zhao, M., Tang, X. and Wei, L. (2012) AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res, 40, D1016-1022.
