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
AutG2058 EPRS 1q41 No 0 1 0 0 0 1 0 0 0 12
AutG4854 NOTCH3 19p13.12 No 0 0 1 0 0 1 0 0 0 12
AutG10016 PDCD6 5p15.33 No 0 0 0 0 1 1 1 0 0 12
AutG51129 ANGPTL4 19p13.2 No 0 0 0 0 2 1 0 0 0 12
AutG261734 NPHP4 1p36.31 No 0 1 0 0 0 1 0 0 0 12
AutG79648 MCPH1 8p23.1 No 0 1 0 0 0 1 0 0 0 12
AutG1742 DLG4 17p13.1 No 0 0 1 0 0 0 0 0 1 12
AutG81624 DIAPH3 13q21.2 No 0 1 0 0 0 0 0 0 1 12
AutG5888 RAD51 15q15.1 No 0 0 1 0 0 1 0 0 0 12
AutG80714 PBX4 19p13.11 No 0 0 1 0 0 1 0 0 0 12
AutG79058 ASPSCR1 17q25.3 No 0 0 1 0 0 1 0 0 0 12
AutG26140 TTLL3 3p25.3 No 0 0 1 0 0 1 0 0 0 12
AutG1007 CDH9 5p14.1 No 3 0 0 0 0 0 0 0 0 12
AutG66036 MTMR9 8p23.1 No 0 1 0 0 0 1 0 0 0 12
AutG4133 MAP2 2q34 No 0 1 0 0 0 0 0 0 1 12
AutG90134 KCNH7 2q24.2 No 0 1 0 0 0 1 0 0 0 12
AutG23383 MAU2 19p13.11 No 0 0 1 0 0 1 0 0 0 12
AutG57148 RALGAPB 20q11.23 No 0 0 1 0 0 1 0 0 0 12
AutG27445 PCLO 7q21.11 No 0 1 0 0 0 1 0 0 0 12
AutG2074 ERCC6 10q11.23 No 0 0 1 0 0 1 0 0 0 12
AutG480 ATP1A4 1q23.2 No 0 0 1 0 0 1 0 0 0 12
AutG80336 PABPC1L 20q13.12 No 0 0 1 0 0 1 0 0 0 12
AutG5207 PFKFB1 Xp11.21 No 0 1 0 0 0 1 0 0 0 12
AutG167153 PAPD4 5q14.1 No 0 0 1 0 0 1 0 0 0 12
AutG4051 CYP4F3 19p13.12 No 0 0 1 0 0 1 0 0 0 12
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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