AutismKB 2.0

NGS Other Studies Related Gene List


Gene ID Gene Symbol Band Gene Name #NGS Other Studies Score
AutG6792 CDKL5 Xp22.13 cyclin-dependent kinase-like 5 3 3
AutG5728 PTEN 10q23.31 phosphatase and tensin homolog 2 2
AutG57680 CHD8 14q11.2 chromodomain helicase DNA binding protein 8 2 2
AutG6326 SCN2A 2q24.3 sodium channel, voltage-gated, type II, alpha subunit 2 2
AutG26053 AUTS2 7q11.22 autism susceptibility candidate 2 2 2
AutG29123 ANKRD11 16q24.3 ankyrin repeat domain 11 2 2
AutG1859 DYRK1A 21q22.13 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 2 2
AutG4204 MECP2 Xq28 methyl CpG binding protein 2 (Rett syndrome) 2 2
AutG8831 SYNGAP1 6p21.32 synaptic Ras GTPase activating protein 1 2 2
AutG6535 SLC6A8 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 2 2
AutG116442 RAB39B Xq28 RAB39B, member RAS oncogene family 2 2
AutG1756 DMD Xp21.2-p21.1 dystrophin 2 2
AutG9320 TRIP12 2q36.3 thyroid hormone receptor interactor 12 2 2
AutG23389 MED13L 12q24.21 mediator complex subunit 13-like 2 2
AutG29119 CTNNA3 10q21.3 catenin (cadherin-associated protein), alpha 3 2 2
AutG2316 FLNA Xq28 filamin A, alpha 2 2
AutG4810 NHS Xp22.2-p22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) 2 2
AutG57448 BIRC6 2p22.3 baculoviral IAP repeat-containing 6 2 2
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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