AutismKB

Detail Information of AutCNV0000546

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:9q33.3-34.11
Evidences:Overlapping/Recurrent CNVs;
Region: Chr9: 129067522 - 131660530
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
AutG6812 STXBP1 0 0 1 2 1 0 11
AutG10044 SH2D3C 0 0 1 0 1 0 9
AutG9536 PTGES 0 0 1 0 1 0 9
AutG64855 FAM129B 0 0 0 2 1 0 4
AutG84895 FAM73B 0 0 0 1 1 0 3
AutG399665 FAM102A 0 0 0 1 1 0 3
AutG389792 IER5L 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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