AutismKB 2.0

Detail Information of AutLD0000031

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not MentionedPDD 152 - 152 - - - - Monaco, 2001
Country: -
Marker Number: 394
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: ASPEX
Band: 7q22.1
Marker: D7S477
Region: Chr7: 97900000 - 104400000
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
AutG5649 RELN 3 2 3 0 1 1 67
AutG43 ACHE 0 0 0 1 1 1 23
AutG2783 GNB2 0 0 0 1 1 1 13
AutG10734 STAG3 0 0 0 1 1 1 13
AutG4885 NPTX2 0 0 1 0 1 1 12
AutG221785 ZNF498 0 0 1 0 1 1 12
AutG1523 CUX1 0 1 0 1 1 1 7
AutG375612 LHFPL3 0 1 0 0 1 1 6
AutG4176 MCM7 0 1 0 0 1 1 6
AutG26261 FBXO24 0 1 0 0 1 1 6
AutG5054 SERPINE1 1 0 0 0 1 1 4
AutG10156 RASA4 0 0 0 2 1 1 4
AutG8985 PLOD3 0 0 0 1 1 1 3
AutG79706 PRKRIP1 0 0 0 1 1 1 3
AutG83787 ARMC10 0 0 0 1 1 1 3
AutG1577 CYP3A5 0 0 0 1 1 1 3
AutG7425 VGF 0 0 0 1 1 1 3
AutG10467 ZNHIT1 0 0 0 1 1 1 3
AutG10603 SH2B2 0 0 0 1 1 1 3
AutG89122 TRIM4 0 0 0 1 1 1 3
AutG51412 ACTL6B 0 0 0 1 1 1 3

Simple Query:


  (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