AutismKB 2.0

Detail Information of AutLD0000114

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 133 - 133 - 280 - - Spence, 2006
Endophenotype: proband phrase and word speech delay
Country: USA
Marker Number: 335
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: Genehunter
Band: 11p11.2
Marker: -
Region: Chr11: 43400000 - 48800000
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
AutG2132 EXT2 0 0 0 1 1 1 13
AutG55761 TTC17 0 0 0 1 1 1 3
AutG57586 SYT13 0 0 0 1 1 1 3
AutG4038 LRP4 0 0 0 1 1 1 3
AutG2147 F2 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