AutismKB


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Detail Information of AutLD0000091

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Caucasionautism 115 - 115 - - - - Buxbaum, 2004
Country: USA
Marker Number: 335
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: Genehunter
Band: 16p13
Marker: D16S2619
Region: Chr16: 0 - 16700000
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
AutG7249 TSC2 AD Level 4: The disorder is a generally acknowledged ASD related disorder.
AutG1387 CREBBP 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
AutG54715 RBFOX1 0 2 2 2 2 2 37
AutG79091 C16orf68 0 2 0 0 2 2 23
AutG2903 GRIN2A 1 1 0 0 2 2 21
AutG1387 CREBBP 2 0 0 0 1 1 16
AutG4363 ABCC1 0 1 0 0 1 1 16
AutG4629 MYH11 0 1 0 0 1 1 13
AutG8912 CACNA1H 0 0 1 0 1 1 12
AutG23589 CARHSP1 0 0 0 2 2 2 11
AutG7249 TSC2 1 0 0 0 1 1 11
AutG729993 SHISA9 0 0 0 1 2 2 10
AutG5310 PKD1 0 0 0 2 1 1 8
AutG4261 CIITA 0 0 0 2 1 1 8
AutG2935 GSPT1 0 0 0 2 1 1 8
AutG23042 PDXDC1 0 0 0 2 1 1 8
AutG8303 SNN 0 0 0 2 1 1 8
AutG6187 RPS2 0 0 0 1 1 1 7
AutG6923 TCEB2 0 0 0 1 1 1 7
AutG79641 ROGDI 0 0 0 1 1 1 7
AutG9516 LITAF 0 0 0 1 1 1 7
AutG4833 NME4 0 0 0 1 1 1 7
AutG57799 RAB40C 0 0 0 1 1 1 7
AutG79006 METRN 0 0 0 1 1 1 7
AutG283871 PGP 0 0 0 1 1 1 7
AutG9235 IL32 0 0 0 1 1 1 7
AutG124402 FAM100A 0 0 0 1 1 1 7
AutG51172 NAGPA 0 0 0 1 1 1 7
AutG23274 CLEC16A 0 0 0 1 1 1 7
AutG9727 RAB11FIP3 0 0 0 1 1 1 7
AutG9028 RHBDL1 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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