AutismKB 2.0

Detail Information of AutLD0000040

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Caucasionautism 19 - 19 - 54 - - Auranen, 2002
Country: Finland
Marker Number: 369
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: Mapmaker/Sibs
Band: 1q21.3
Marker: D1S498
Region: Chr1: 149600000 - 153300000
2. Related Syndromic Genes Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID Gene Symbol Inheritance Evidence Level
No data!
3. Related Non-syndromic Genes Top
Gene ID Gene Symbol Evidence Score Total Score
Low-Scale Association GWAS Low-Scale Single Gene Expression CNV Linkage
AutG23126 POGZ 0 0 3 0 1 1 62
AutG57198 ATP8B2 0 0 0 1 1 1 15
AutG103 ADAR 0 0 1 0 1 1 14
AutG6281 S100A10 0 0 0 2 1 1 6
AutG6279 S100A8 0 0 0 1 1 1 5
AutG5872 RAB13 0 0 0 1 1 1 5
AutG6282 S100A11 0 0 0 1 1 1 5
AutG140576 S100A16 0 0 0 1 1 1 5
AutG3782 KCNN3 0 0 0 1 1 1 5

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