AutismKB

Benchmark DataSet

This dataset contains 21 genes.
These genes come from 6 highly accessed review papers since 2004. Except the genes which only contains in the newest review(State, 2010), all the other genes need to be mentioned in at least 2 review papers.

Gene ID Gene Symbol Citation Band Evidence Score Total Score
Low-Scale Association GWAS Low-Scale Single Gene Expression CNV Linkage
AutG5649 RELN [2-4,6] 7q22 3 2 3 0 0 1 43
AutG26047 CNTNAP2 [1,2] 7q35 2 2 3 0 1 1 42
AutG5021 OXTR [4,6] 3p25 3 1 3 1 1 1 40
AutG57502 NLGN4X [1-6] Xp22.33 1 2 3 0 1 0 38
AutG2562 GABRB3 [3-6] 15q11.2-q12 2 0 3 1 3 0 34
AutG4233 MET [1,2,4] 7q31 3 0 3 1 1 0 33
AutG93986 FOXP2 [1,3,6] 7q31 1 1 3 0 1 1 33
AutG6532 SLC6A4 [2-6] 17q11.2 3 0 3 0 0 2 32
AutG2020 EN2 [1,3,4] 7q36 3 0 3 0 0 0 30
AutG9378 NRXN1 [1,2,4] 2p16.3 1 0 3 0 2 0 28
AutG8604 SLC25A12 [3,4] 2q24 3 0 2 2 0 2 27
AutG54413 NLGN3 [1-6] Xq13.1 1 0 3 0 1 0 26
AutG85358 SHANK3 [1,2,4] 22q13.3 0 0 3 0 2 0 25
AutG140733 MACROD2 [1] 20p12.1 1 3 0 0 1 0 23
AutG9037 SEMA5A [1] 5p15.2 0 2 1 1 1 0 22
AutG5728 PTEN [1,2,4] 10q23.3 0 0 3 0 0 1 22
AutG1008 CDH10 [1] 5p14.2 0 3 0 1 1 0 21
AutG2898 GRIK2 [3,4,6] 6q16.3-q21 3 0 1 0 1 1 19
AutG1007 CDH9 [1] 5p14 0 3 0 0 0 0 18
AutG22941 SHANK2 [1] 11q13.2 0 0 2 0 1 0 16
AutG2567 GABRG3 [3,6] 15q12 1 0 1 0 3 0 16
Reference:
1. State, M.W. (2010). The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron 68, 254-269. (PMID: 20955933)
2. Losh, M., Sullivan, P.F., Trembath, D., and Piven, J. (2008). Current developments in the genetics of autism: from phenome to genome. J Neuropathol Exp Neurol 67, 829-837. (PMID: 18716561)
3. Freitag, C.M. (2007). The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 12, 2-22. (PMID: 17033636)
4. Abrahams, B.S., and Geschwind, D.H. (2008). Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 9, 341-355. (PMID: 18414403)
5. Klauck, S.M. (2006). Genetics of autism spectrum disorder. Eur J Hum Genet 14, 714-720. (PMID: 16721407)
6. Muhle, R., Trentacoste, S.V., and Rapin, I. (2004). The genetics of autism. Pediatrics 113, e472-486. (PMID: 15121991)

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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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