AutismKB


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Detail Information of AutCNV0000549

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD - - - - 119 54 - Gregory, 2009
Population: USA
Platform: Genetix Qarray2
Method: aCGH
Marker:-
Band:9q34.12-34.2
Evidences:Overlapping/Recurrent CNVs;
Region: Chr9: 132679346 - 135159654
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
AutG10585 POMT1 AR Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG7248 TSC1 AD Level 4: The disorder is 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
AutG10319 LAMC3 0 0 1 0 1 0 9
AutG7248 TSC1 0 0 1 0 1 0 9
AutG5900 RALGDS 0 0 0 1 1 0 3

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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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