AutismKB 2.0

Detail Information of AutLD0000033

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: 9q34.3
Marker: D9S1826
Region: Chr9: 136600000 - 140273252
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
AutG79813 EHMT1 AD Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
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
AutG79813 EHMT1 0 0 1 0 1 1 12
AutG9858 KIAA0649 0 0 0 2 1 1 4
AutG9022 CLIC3 0 0 0 2 1 1 4
AutG10811 NOXA1 0 0 0 2 1 1 4
AutG57582 KCNT1 0 0 0 1 1 1 3
AutG9919 SEC16A 0 0 0 1 1 1 3
AutG55684 C9orf86 0 0 0 1 1 1 3
AutG2902 GRIN1 0 0 0 1 1 1 3
AutG6621 SNAPC4 0 0 0 1 1 1 3
AutG389812 LCN15 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