AutismKB 2.0

Detail Information of AutLD0000065

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Caucasionautism 222 - 222 - - - - Schellenberg, 2006
Country: USA
Marker Number: 410
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: Merlin
Band: 7q32
Marker: D7S530
Region: Chr7: 126900000 - 132400000
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
AutG1357 CPA1 0 1 0 0 1 1 16
AutG2318 FLNC 0 0 0 1 1 1 13
AutG91584 PLXNA4 0 2 0 0 1 1 11
AutG23382 AHCYL2 0 1 0 0 1 1 6
AutG1358 CPA2 0 1 0 0 1 1 6
AutG6608 SMO 0 1 0 0 1 1 6
AutG29923 C7orf68 0 0 0 3 1 1 5
AutG95681 TSGA14 1 0 0 1 1 1 5
AutG26958 COPG2 1 0 0 0 1 1 4
AutG7328 UBE2H 1 0 0 0 1 1 4
AutG4232 MEST 1 0 0 0 1 1 4
AutG114960 TSGA13 1 0 0 0 1 1 4
AutG64753 CCDC136 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