AutismKB 2.0

Detail Information of AutLD0000156

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 40 - 40 - 192 461 653 Allen-Brady, 2010
Country: USA
Marker Number: 6044
Platform: Illumina Linkage Panel 12
Method: SNP-based genomic screen
Software Algorithm: MCLINK
Band: 15q14-q21.1
Marker: rs723049
Region: Chr15: 31400000 - 47600000
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
AutG2628 GATM AR Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
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
AutG56924 PAK6 0 0 0 1 1 1 13
AutG1133 CHRM5 0 1 0 0 1 1 6
AutG140691 TRIM69 0 0 0 1 1 1 5
AutG84936 ZFYVE19 0 0 0 1 1 1 5
AutG58472 SQRDL 0 0 0 1 1 1 5
AutG30844 EHD4 0 0 0 2 1 1 4
AutG440270 GOLGA8B 0 0 0 1 1 1 3
AutG729082 LOC729082 0 0 0 1 1 1 3
AutG10125 RASGRP1 0 0 0 1 1 1 3
AutG3706 ITPKA 0 0 0 1 1 1 3
AutG548596 CKMT1A 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