AutismKB 2.0

View the literatures on the ASD-related mosaicism


Publication Year Case Number Family Number Category Number of Mosaic Variant Pubmed ID
AutM0001 2003 1 mosaic CNV112884434
AutM0002 2006 1 mosaic CNV116602035
AutM0003 2007 120 mosaic CNV117483303
AutM0004 2008 1 mosaic CNV118414512
AutM0005 2012 2 mosaic CNV122157634
AutM0006 2015 2 1 mosaic SNV126542245
AutM0007 2016 2388 mosaic SNV527632392
AutM0008 2017 2361 mosaic SNV23028503910
AutM0009 2017 5947 mosaic SNV37628714951
AutM00010 2017 2264 mosaic SNV24728867142
AutM00011 2017 1 0 mosaic SNV128230711

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018