AutismKB


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Detail Information of AutLD0000148

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 341 - 341 - - - - Sutcliffe, 2005
Country: USA, AGRE
Marker Number: -
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: -
Band: 17q11.2
Marker: D17S1800
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 39
AutG4763 NF1 2 0 0 0 2 2 16
AutG4974 OMG 2 0 0 0 2 2 16
AutG40 ACCN1 1 0 0 0 2 2 14
AutG4843 NOS2 1 0 0 1 2 2 12
AutG642 BLMH 1 0 0 1 2 2 12
AutG26022 TMEM98 1 0 0 0 2 2 11
AutG4642 MYO1D 1 0 0 0 2 2 11
AutG84440 RAB11FIP4 0 0 0 2 2 2 8
AutG2319 FLOT2 0 0 0 2 2 2 8
AutG8851 CDK5R1 0 0 0 1 2 2 7
AutG124923 SGK494 0 0 0 1 2 2 7
AutG124925 SEZ6 0 0 0 1 2 2 7
AutG57532 NUFIP2 0 0 0 1 2 2 7
AutG7448 VTN 0 0 0 1 2 2 7
AutG399687 MYO18A 0 0 0 1 2 2 7
AutG84940 CORO6 0 0 0 1 2 2 7
AutG162494 RHBDL3 0 0 0 1 2 2 7

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

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