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
AutG4233 MET 7q31 No 1 0 0 3 1 1 0 0 2 41
AutG2562 GABRB3 15q12 No 0 3 0 2 1 0 0 0 3 41
AutG26058 GIGYF2 2q37.1 No 0 1 0 0 0 3 0 1 0 40
AutG721 C4B 6p21.33 No 0 1 0 3 2 0 0 0 3 40
AutG6532 SLC6A4 17q11.2 No 0 0 2 3 0 0 0 0 3 40
AutG10319 LAMC3 9q34.12 No 0 0 0 0 0 3 0 1 0 38
AutG8831 SYNGAP1 6p21.32 No 0 1 0 0 0 2 0 2 0 38
AutG2020 EN2 7q36.3 No 0 0 0 3 0 0 0 0 3 36
AutG93986 FOXP2 7q31.1 No 1 0 1 1 0 0 0 1 2 36
AutG1917 EEF1A2 20q13.33 No 1 1 0 0 0 1 0 0 2 36
AutG4139 MARK1 1q41 No 0 0 0 2 1 1 0 0 2 35
AutG627 BDNF 11p14.1 No 0 0 0 2 0 0 0 0 3 34
AutG5595 MAPK3 16p11.2 No 0 2 0 0 0 1 0 0 2 34
AutG438 ASMT Xp22.3 and Yp11.3 No 0 1 0 1 0 0 0 0 3 34
AutG3778 KCNMA1 10q22.3 No 0 0 1 0 1 2 1 0 1 34
AutG23304 UBR2 6p21.1 No 0 1 0 0 0 3 1 0 0 33
AutG5021 OXTR 3p25.3 No 1 0 1 3 1 0 0 0 2 33
AutG9037 SEMA5A 5p15.31 No 1 0 0 0 1 1 0 1 1 33
AutG23040 MYT1L 2p25.3 No 0 1 1 0 1 2 0 1 0 33
AutG6812 STXBP1 9q34.11 No 0 1 0 0 3 2 0 1 0 33
AutG287 ANK2 4q25-q26 No 0 1 0 0 0 3 0 0 0 32
AutG8604 SLC25A12 2q31.1 No 0 0 2 3 2 0 0 0 2 32
AutG5528 PPP2R5D 6p21.1 No 0 1 0 0 0 2 0 0 1 32
AutG6529 SLC6A1 3p25.3 No 0 0 1 0 0 3 0 0 0 32
AutG6540 SLC6A13 12p13.33 No 0 1 0 0 0 3 0 0 0 32
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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