AutismKB 2.0

Detail Information of AutLD0000037

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not MentionedPDD 152 - 152 - - - - Monaco, 2001
Country: -
Marker Number: 394
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: ASPEX
Band: 16p13.2
Marker: D16S407
Region: Chr16: 6300000 - 10300000
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
AutG54715 RBFOX1 0 0 2 2 2 2 28
AutG79091 C16orf68 0 2 0 0 2 2 12
AutG2903 GRIN2A 1 1 0 0 2 2 10
AutG23589 CARHSP1 0 0 0 2 2 2 6

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