AutismKB -- AutismKB is an evidence-based knowledgebase of autismhttp://doi.org/10.18170/DVN/CRZWBXCenter for BioinformaticsPeking University Open Research Data Platform2015-11-202015-11-20T09:17:02Z<a href="http://autismkb.cbi.cqjj8.com/">Access to Data</a><br> Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a prevalence of 1.0-2.6%. The three core symptoms of ASD are: 1. impairments in reciprocal social interaction; 2. communication impairments; 3. 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 followingsix experimental methods: 1. Genome-Wide Association Studies (GWAS); 2. Genome-wide CNV studies; 3. Linkage analysis; 4. Low-scale genetic association studies; 5. Expression profiling; 6. Other low-scale gene studies. Based on a scoring and ranking system, 99 syndromic autism related genes and 109 non-syndromic autism related genes (171 genes in total) were designated as having high confidence. Medicine, Health and Life SciencesAutism spectrum disorder; heterogeneous neurodevelopmental disorder; ASD genetics;Peking University Library2015-11-20CC0CC0 Waiver