AutismKB 2.0

Detail Information of AutLD0000053

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionPDD 90 - 90 - - - - Risch, 1999
Country: USA
Marker Number: 362
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: ASPEX
Band: 17p13.2
Marker: D17S1298
Region: Chr17: 3600000 - 6800000
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
AutG10514 MYBBP1A 0 0 1 0 1 1 12
AutG10749 KIF1C 0 0 0 2 1 1 4
AutG124936 CYB5D2 0 0 0 1 1 1 3
AutG58191 CXCL16 0 0 0 1 1 1 3
AutG388325 C17orf87 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