AutismKB 2.0

Detail Information of AutLD0000011

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not Mentionedautism 158 - 158 - 333 - - McCauley, 2005
Country: -
Marker Number: 500
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: Allegro
Band: 19p13.11
Marker: D19S113
Region: Chr19: 16100000 - 19800000
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
AutG404037 HAPLN4 0 0 0 3 1 1 5
AutG684 BST2 0 0 0 2 1 1 4
AutG170463 SSBP4 0 0 0 1 1 1 3
AutG7311 UBA52 0 0 0 1 1 1 3
AutG5864 RAB3A 0 0 0 1 1 1 3
AutG23770 FKBP8 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