Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a prevalence of 1%-2%. The core symptoms of ASD include:
- Deficits in social interaction and social communication.
- Restricted repetitive behaviors or interests.
Genetic factors contribute significantly to ASD. AutismKB 2.0 is a knowledgebase for the genetic evidence of ASD. The current version contains 1,379 genes (99 syndromic autism related genes and 1,280 non-syndromic autism related genes), 5,420 Copy Number Variations (CNVs)/Structural Variations (SVs), 11,669 single-nucleotide variations (SNVs)/insertions and deletions (InDels) and 172 linkage regions associated with ASD by one or more of the following nine categories of evidences/studies:
- Genome-Wide Association Studies (GWAS);
- Genome-Wide Copy Number Variation/Structure Variation (CNV/SV) Studies;
- Linkage Studies;
- Low-Scale Genetic Association Studies;
- Expression Profilings;
- Next Generation Sequencing (NGS) de novo Mutation Studies;
- NGS Mosaic Studies;
- NGS Other Studies;
- Low-Scale Gene Studies.
Based on a scoring and ranking system (More), 30 syndromic autism related genes and 198 non-syndromic autism related genes (228 genes in total) were designated as having high confidence (Core Dataset).
Click to view main datasets:
Publications:
Xu LM, Li JR, Huang Y, Zhao M, Tang X and Wei LP (2012) AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res, 40, D1016-1022. Full Text
Yang CH, Li JR, Wu QX, Yang XX, Huang AY, Zhang J, Ye AY, Dou YM, Yan LL, Zhou WZ, Kong L, Wang M, Ai C, Yang DC, Wei LP. AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. Database, Volume 2018, 1. Full Text Website Version: 2.0
