AutismKB

Detail Information of AutCNV0000349

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not Mentionedautism - - - - 105 267 372 Zwaag, 2009
Population: -
Platform: Illumina Humanhap300 Beadchip
Method: SNP microarray
Marker:S100A5
Band:1q21.3
Evidences:CNVs Only Present In Patients; Significant Enriched CNVs;
Region: Chr1: 149600000 - 153300000 (Deduced by Band)
Gain/Loss:
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
AutG23126 POGZ 0 0 2 0 1 1 17
AutG1141 CHRNB2 0 0 2 0 1 1 17
AutG6703 SPRR2D 0 0 1 0 1 1 10
AutG2312 FLG 0 0 1 0 1 1 10
AutG6281 S100A10 0 0 0 2 1 1 5
AutG57198 ATP8B2 0 0 0 1 1 1 4
AutG3782 KCNN3 0 0 0 1 1 1 4
AutG6282 S100A11 0 0 0 1 1 1 4
AutG140576 S100A16 0 0 0 1 1 1 4
AutG5872 RAB13 0 0 0 1 1 1 4
AutG6279 S100A8 0 0 0 1 1 1 4

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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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