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
AutG8452 CUL3 2q36.2 No 0 0 0 0 0 0 0 1 1 18
AutG5218 CDK14 7q21.13 No 1 1 0 0 2 1 0 0 0 18
AutG4629 MYH11 16p13.11 No 1 1 1 0 0 1 0 0 0 18
AutG59341 TRPV4 12q24.11 No 0 0 0 0 0 1 0 1 0 18
AutG3356 HTR2A 13q14.2 No 0 1 0 3 0 0 0 0 1 18
AutG389549 FEZF1 7q31.32 No 2 0 1 0 0 0 0 1 0 18
AutG27185 DISC1 1q42.2 No 0 1 0 2 0 0 1 0 1 17
AutG5579 PRKCB1 16p12.2-p12.1 No 0 0 0 2 3 0 0 0 1 17
AutG10417 SPON2 4p16.3 No 0 1 1 0 3 1 0 0 0 17
AutG57448 BIRC6 2p22.3 No 0 0 0 0 0 0 1 2 0 17
AutG60412 EXOC4 7q33 No 1 0 1 0 0 1 0 0 0 16
AutG65217 PCDH15 10q21.1 No 1 1 0 0 0 0 0 0 1 16
AutG93664 CADPS2 7q31.32 No 0 1 1 0 2 0 0 0 1 16
AutG1357 CPA1 7q32.2 No 1 0 1 0 0 1 0 0 0 16
AutG8220 DGCR14 22q11.21|22q11.2 No 0 2 1 0 0 1 0 0 0 16
AutG10864 SLC22A7 6p21.1 No 1 1 0 0 0 1 0 0 0 16
AutG23362 PSD3 8p22 No 3 1 1 0 0 0 0 0 0 16
AutG23042 PDXDC1 16p13.11 No 0 1 1 0 2 1 0 0 0 16
AutG3751 KCND2 7q31.31 No 1 0 1 0 0 1 0 0 0 16
AutG23617 TSSK2 22q11.21 No 0 2 1 0 0 1 0 0 0 16
AutG3912 LAMB1 7q31.1 No 0 0 1 2 0 1 0 0 0 16
AutG24149 ZNF318 6p21.1 No 1 1 0 0 0 1 0 0 0 16
AutG5879 RAC1 7p22.1 No 1 1 0 0 0 0 0 0 1 16
AutG2557 GABRA4 4p12 No 0 1 0 2 0 0 0 0 1 16
AutG4642 MYO1D 17q11.2 No 0 0 2 1 0 1 0 0 0 16
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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