AutismKB

Detail Information of AutLD0000138

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not Mentionedautism - - - - 12 44 56 Lauritsen, 2006
Country: Faroe Islands
Marker Number: 502
Platform: -
Method: microsatellite-based genomic screen
Software Algorithm: CLUMP
Band: 16p13.3
Marker: D16S748
Region: Chr16: 0 - 6300000
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
AutG1387 CREBBP 2 0 0 0 1 1 16
AutG8912 CACNA1H 0 0 1 0 1 1 12
AutG7249 TSC2 1 0 0 0 1 1 11
AutG5310 PKD1 0 0 0 2 1 1 8
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
AutG9727 RAB11FIP3 0 0 0 1 1 1 7
AutG9028 RHBDL1 0 0 0 1 1 1 7
AutG283871 PGP 0 0 0 1 1 1 7
AutG79641 ROGDI 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
AutG6187 RPS2 0 0 0 1 1 1 7
AutG6923 TCEB2 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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