AutismKB

Detail Information of AutCNV0000704

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not MentionedASD - - - - 396 5023 - Berkel, 2010
Complication: Yes
Population: Canada
Platform: Affymetrix SNP Array 6.0/Illumina Infinium 1M single SNP array
Method: SNP microarray
Marker:-
Band:8p22
Evidences:CNVs Only Present In Patients; CNVs Not Present In Control;
Region: Chr8: 12700000 - 19100000 (Deduced by Band)
Gain/Loss: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
AutG23362 PSD3 0 1 0 0 1 1 9
AutG137868 SGCZ 0 0 0 1 1 1 4
AutG6542 SLC7A2 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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