AutismKB 2.0

Detail Information of AutLD0000127

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not Mentionedautism - - - - 12 44 56 Lauritsen, 2006
Country: Faroe Islands
Marker Number: 502
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: CLUMP
Band: 2q31.1
Marker: D2S2381
Region: Chr2: 169500000 - 177700000
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
AutG8604 SLC25A12 3 0 2 2 2 2 32
AutG4036 LRP2 0 1 0 0 2 2 28
AutG11069 RAPGEF4 1 0 2 0 2 2 26
AutG2571 GAD1 2 0 1 1 2 2 19
AutG9874 TLK1 0 0 0 1 2 2 15
AutG129880 BBS5 0 1 0 2 2 2 10
AutG140469 MYO3B 0 1 0 0 2 2 8
AutG1745 DLX1 1 0 0 2 2 2 8
AutG10170 DHRS9 0 0 0 3 2 2 7
AutG29789 OLA1 0 0 0 2 2 2 6
AutG3231 HOXD1 1 0 0 0 2 2 6
AutG1746 DLX2 1 0 0 0 2 2 6
AutG51776 ZAK 0 0 0 2 2 2 6
AutG151556 GPR155 0 0 0 2 2 2 6
AutG10324 KLHL41 0 0 0 1 2 2 5

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