AutismKB 2.0

Detail Information of AutLD0000112

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: 10p11.23-q11.23
Marker: -
Region: Chr10: 28300000 - 53300000
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
AutG3688 ITGB1 0 0 0 2 1 1 14
AutG5592 PRKG1 0 1 0 0 1 1 8
AutG79741 C10orf68 0 1 0 0 1 1 6
AutG83937 RASSF4 0 0 0 3 1 1 5
AutG23283 CSTF2T 0 0 0 1 1 1 5
AutG219749 ZNF25 0 0 0 2 1 1 4
AutG55753 OGDHL 0 0 0 2 1 1 4
AutG6840 SVIL 0 0 0 1 1 1 3
AutG8829 NRP1 0 0 0 1 1 1 3
AutG143162 FRMPD2 0 0 0 1 1 1 3
AutG80314 EPC1 0 0 0 1 1 1 3
AutG57209 ZNF248 0 0 0 1 1 1 3
AutG9790 BMS1 0 0 0 1 1 1 3
AutG11067 C10orf10 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