AutismKB

Detail Information of AutCNV0000140

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
MixedASD 427 238 189 - 427 500 927 Marshall, 2008
Population: -
Platform: Affymetrix 500K array
Method: SNP microarray
Marker:-
Band:5p15.33-15.2
Evidences:Denovo CNVs;
Region: Chr5: 81949 - 13882933 (hg17: Chr5: 81949-13882933)
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
AutG9037 SEMA5A 0 2 1 1 1 0 22
AutG1767 DNAH5 0 0 2 0 1 0 16
AutG50834 TAS2R1 0 2 0 0 1 0 14
AutG6531 SLC6A3 0 0 1 0 1 0 9
AutG1501 CTNND2 0 0 1 0 1 0 9
AutG4552 MTRR 1 0 0 0 1 0 5
AutG57491 AHRR 0 0 0 1 1 0 3
AutG10016 PDCD6 0 0 0 1 1 0 3
AutG9319 TRIP13 0 0 0 1 1 0 3
AutG6715 SRD5A1 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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