AutismKB

Detail Information of AutLD0000028

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionPDD 99 - 99 - - - - Bailey, 1998
Country: -
Marker Number: 354
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: SPLINK
Band: 22q11.21
Marker: D22S264
Region: Chr22: 16300000 - 20500000
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
AutG6899 TBX1 AD Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been 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
AutG1312 COMT 1 0 1 0 1 1 20
AutG5625 PRODH 0 0 1 0 1 1 15
AutG5594 MAPK1 0 0 1 0 1 1 15
AutG7122 CLDN5 0 0 0 2 1 1 11
AutG9993 DGCR2 0 0 0 1 1 1 10
AutG7332 UBE2L3 0 0 0 1 1 1 10
AutG25787 DGCR9 0 0 0 1 1 1 10
AutG3053 SERPIND1 0 0 0 1 1 1 10
AutG23753 SDF2L1 0 0 0 1 1 1 10
AutG637 BID 0 0 0 1 1 1 7

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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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