AutismKB

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:



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   Website Version: 1.0
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

Quick Search:


  (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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