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.

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

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