AutismKB 2.0

Detail Information of AutLD0000080

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not Mentionedautism 207 - 207 - 420 - - Lamb, 2005
Country: -
Marker Number: 396
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: ASPEX
Band: 10p14
Marker: D10S189
Region: Chr10: 6700000 - 12300000
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
AutG57713 SFMBT2 0 0 0 2 1 1 4
AutG2625 GATA3 0 0 0 1 1 1 3
AutG26019 UPF2 0 0 0 1 1 1 3
AutG3698 ITIH2 0 0 0 1 1 1 3
AutG9712 USP6NL 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