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
AutG4308 TRPM1 15q13.3 No 0 3 1 0 0 0 0 0 0 8
AutG8924 HERC2 15q13.1 No 0 3 1 0 0 0 0 0 0 8
AutG320 APBA1 9q21.12 No 0 0 0 0 0 0 0 1 0 8
AutG4747 NEFL 8p21.2 No 0 1 1 1 1 0 0 0 0 7
AutG10170 DHRS9 2q31.1 No 0 0 2 0 3 0 0 0 0 7
AutG81614 NIPA2 15q11.2 No 0 3 0 0 1 0 0 0 0 7
AutG60680 CELF5 19p13.3 No 1 0 1 0 1 0 0 0 0 7
AutG348 APOE 19q13.32 No 0 0 0 2 3 0 0 0 0 7
AutG4843 NOS2 17q11.2 No 0 0 2 1 1 0 0 0 0 7
AutG642 BLMH 17q11.2 No 0 0 2 1 1 0 0 0 0 7
AutG5156 PDGFRA 4q12 No 1 1 0 0 1 0 0 0 0 7
AutG3053 SERPIND1 22q11.21 No 0 2 1 0 1 0 0 0 0 7
AutG5789 PTPRD 9p24.1-p23 No 1 1 0 0 0 0 1 0 0 7
AutG1523 CUX1 7q22.1 No 1 0 1 0 1 0 0 0 0 7
AutG9993 DGCR2 22q11.21 No 0 2 1 0 1 0 0 0 0 7
AutG5649 RELN 7q22.1 No 2 0 1 3 0 2 1 0 3 67
AutG23126 POGZ 1q21.3 No 0 1 1 0 0 2 0 1 3 62
AutG57680 CHD8 14q11.2 No 0 2 0 0 0 3 0 2 1 60
AutG387066 SNHG5 6q14.3 No 0 1 1 0 2 0 0 0 0 6
AutG51586 MED15 22q11.21 No 0 2 1 0 0 0 0 0 0 6
AutG8214 DGCR6 22q11.21 No 0 2 1 0 0 0 0 0 0 6
AutG3231 HOXD1 2q31.1 No 0 0 2 1 0 0 0 0 0 6
AutG26245 OR2M4 1q44 No 1 0 1 0 0 0 0 0 0 6
AutG4240 MFGE8 15q26.1 No 0 1 1 0 2 0 0 0 0 6
AutG6014 RIT2 18q12.3 No 1 0 1 0 0 0 0 0 0 6
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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