AutismKB 2.0

Detail Information of AutLD0000044

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: 17q25.3
Marker: D17S784
Region: Chr17: 72900000 - 78774742
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
AutG6448 SGSH AR 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
AutG10458 BAIAP2 1 0 0 1 1 1 5
AutG9123 SLC16A3 0 0 0 3 1 1 5
AutG57602 USP36 0 0 0 2 1 1 4
AutG9021 SOCS3 1 0 0 0 1 1 4
AutG3959 LGALS3BP 0 0 0 1 1 1 3
AutG284001 CCDC57 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