AutismKB

Detail Information of AutCNV0000723

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD - - - - 223 - 223 Bremer, 2011
Population: -
Platform: Agilent 244K oligonucleotide CGH microarray, 33K and 38K BAC arrays
Method: aCGH
Marker:-
Band:22q11.21-q11.22
Evidences:Overlapping/Recurrent CNVs; Denovo CNVs;
Region: Chr22: 19800000 - 21400000
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
AutG5594 MAPK1 0 0 2 0 2 1 19
AutG23753 SDF2L1 0 0 0 1 2 1 6
AutG7332 UBE2L3 0 0 0 1 2 1 6
AutG9647 PPM1F 0 0 0 1 2 0 5

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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
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