AutismKB 2.0

NGS and Other Studies Related Gene List

We collected all the low scale candidate gene studies in the dataset, including case report, mutation screen, gene function studies and some other low scale studies but not association studies.
According to the number of positive studies, genes in the dataset are scored by 5, 4, 3, 2, 1 and 0. The higher the score, the more confident the gene is. (More information about the dataset)
Gene ID Gene Symbol Band Gene Name Candidate Gene Studies Score
Positive Negative
AutG374786 EFCAB5 17q11.2 EF-hand calcium binding domain 5 1 0 1
AutG6095 RORA 15q22.2 RAR-related orphan receptor A 1 0 1
AutG1750 DLX6 7q21.3 distal-less homeobox 6 1 0 1
AutG23426 GRIP1 12q14.3 glutamate receptor interacting protein 1 1 0 1
AutG54221 SNTG2 2p25.3 syntrophin, gamma 2 1 0 1
AutG7472 WNT2 7q31.2 wingless-type MMTV integration site family member 2 1 0 1
AutG3198 HOXA1 7p15.2 homeobox A1 1 1 1
AutG1813 DRD2 11q23.2 dopamine receptor D2 1 0 1
AutG285195 SLC9A9 3q24 solute carrier family 9 (sodium/hydrogen exchanger), member 9 1 0 1
AutG952 CD38 4p15.32 CD38 molecule 1 0 1
AutG6229 RPS24 10q22.3 ribosomal protein S24 1 0 1
AutG1806 DPYD 1p21.3 dihydropyrimidine dehydrogenase 1 0 1
AutG2739 GLO1 6p21.2 glyoxalase I 1 0 1
AutG2572 GAD2 10p12.1 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 1 0 1
AutG6616 SNAP25 20p12.2 synaptosomal-associated protein, 25kDa 1 0 1
AutG9783 RIMS3 1p34.2 regulating synaptic membrane exocytosis 3 1 0 1
AutG8091 HMGA2 12q14.3 high mobility group AT-hook 2 1 0 1
AutG54674 LRRN3 7q31.1 leucine rich repeat neuronal 3 1 0 1
AutG9722 NOS1AP 1q23.3 nitric oxide synthase 1 (neuronal) adaptor protein 1 0 1
AutG5444 PON1 7q21.3 paraoxonase 1 1 0 1
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018