AutismKB 2.0

Detail Information of AutLD0000090

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Caucasionautism 115 - 115 - - - - Buxbaum, 2004
Country: USA
Marker Number: 335
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: Genehunter
Band: 10q23.31
Marker: D10S2327
Region: Chr10: 89600000 - 92900000
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
AutG5728 PTEN AD Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
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
AutG5728 PTEN 0 0 3 0 1 1 78
AutG57559 STAMBPL1 0 0 0 2 1 1 4
AutG355 FAS 0 0 0 1 1 1 3
AutG3437 IFIT3 0 0 0 1 1 1 3

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