AutismKB 2.0

Detail Information of AutLD0000008

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: 17q11.2
Marker: D17S1294
Region: Chr17: 23200000 - 28800000
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
AutG84282 RNF135 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.
AutG4763 NF1 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
AutG6532 SLC6A4 3 0 3 0 2 2 40
AutG4763 NF1 2 0 0 0 2 2 18
AutG4642 MYO1D 1 0 0 0 2 2 16
AutG374786 EFCAB5 0 0 1 0 2 2 14
AutG4974 OMG 2 0 0 0 2 2 8
AutG642 BLMH 1 0 0 1 2 2 7
AutG4843 NOS2 1 0 0 1 2 2 7
AutG84282 RNF135 1 0 0 0 2 2 6
AutG40 ACCN1 1 0 0 0 2 2 6
AutG2319 FLOT2 0 0 0 2 2 2 6
AutG84440 RAB11FIP4 0 0 0 2 2 2 6
AutG26022 TMEM98 1 0 0 0 2 2 6
AutG162494 RHBDL3 0 0 0 1 2 2 5
AutG7448 VTN 0 0 0 1 2 2 5
AutG399687 MYO18A 0 0 0 1 2 2 5
AutG84940 CORO6 0 0 0 1 2 2 5
AutG8851 CDK5R1 0 0 0 1 2 2 5
AutG124923 SGK494 0 0 0 1 2 2 5
AutG124925 SEZ6 0 0 0 1 2 2 5
AutG57532 NUFIP2 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