AutismKB 2.0

Non-syndromic Autism Gene List


Gene ID Gene Symbol Band Syndromic Autism Evidence Score Total Score
GWAS CNV Linkage Association Expression NGS de novo Mutation NGS Mosaic SNV NGS Other Low-Scale Gene Studies
AutG27131 SNX5 20p11.23 No 0 0 0 0 0 2 0 0 0 20
AutG7846 TUBA1A 12q13.12 No 0 0 0 0 0 2 0 0 0 20
AutG3708 ITPR1 3p26.1 No 0 0 0 0 2 1 0 1 0 20
AutG1144 CHRND 2q37.1 No 0 0 0 0 0 2 0 0 0 20
AutG22941 SHANK2 11q13.3-q13.4 No 0 1 0 0 0 0 0 1 1 20
AutG57717 PCDHB16 5q31.3 No 0 0 0 0 0 2 0 0 0 20
AutG6569 SLC34A1 5q35.3 No 0 0 0 0 0 2 0 0 0 20
AutG6646 SOAT1 1q25.2 No 0 0 0 0 0 2 0 0 0 20
AutG2873 GPS1 17q25.3 No 0 0 1 0 0 1 0 1 0 20
AutG221037 JMJD1C 10q21.3 No 0 0 0 0 0 0 0 0 2 20
AutG10522 DEAF1 11p15.5 No 0 0 0 0 0 1 0 0 1 20
AutG143689 PIWIL4 11q21 No 0 0 0 0 0 2 0 0 0 20
AutG55870 ASH1L 1q22 No 0 1 0 0 0 1 0 1 0 20
AutG54584 GNB1L 22q11.21 No 1 2 1 0 0 0 0 0 1 20
AutG283375 SLC39A5 12q13.3 No 0 0 0 0 0 2 0 0 0 20
AutG196385 DNAH10 12q24.31 No 0 0 0 0 0 1 1 1 0 19
AutG6262 RYR2 1q43 No 1 1 1 0 1 1 0 0 0 19
AutG2571 GAD1 2q31.1 No 0 0 2 2 1 0 0 0 1 19
AutG23191 CYFIP1 15q11.2 No 0 3 0 1 1 0 0 0 1 19
AutG8632 DNAH17 17q25.3 No 0 0 0 0 0 1 1 1 0 19
AutG152330 CNTN4 3p26.3-p26.2 No 1 1 0 1 0 0 0 0 1 18
AutG145581 LRFN5 14q21.1 No 2 0 0 0 0 1 0 0 0 18
AutG6734 SRPR 11q24.2 No 0 0 0 0 0 1 0 1 0 18
AutG29072 SETD2 3p21.31 No 0 0 0 0 0 0 0 1 1 18
AutG404636 FAM45A 10q26.11 No 0 0 0 0 0 1 0 1 0 18
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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