AutismKB 2.0

Detail Information of AutLD0000140

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: 17q24.3-25.1
Marker: GATA31B11/D17S1862
Region: Chr17: 64600000 - 72200000
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
AutG63893 UBE2O 0 0 0 1 1 1 15
AutG146722 CD300LF 0 0 1 0 1 1 12
AutG201266 SLC39A11 0 1 0 0 1 1 8
AutG6662 SOX9 0 0 0 2 1 1 4
AutG15 AANAT 1 0 0 0 1 1 4
AutG6752 SSTR2 0 0 0 1 1 1 3
AutG388419 BTBD17 0 0 0 1 1 1 3
AutG114804 RNF157 0 0 0 1 1 1 3
AutG79651 RHBDF2 0 0 0 1 1 1 3
AutG3773 KCNJ16 0 0 0 1 1 1 3
AutG54549 SDK2 0 0 0 1 1 1 3
AutG326624 RAB37 0 0 0 1 1 1 3
AutG9400 RECQL5 0 0 0 1 1 1 3
AutG8877 SPHK1 0 0 0 1 1 1 3
AutG114757 CYGB 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