AutismKB

Evidence Detail for ALDH5A1


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Basic Information Top
Gene Symbol:ALDH5A1 ( SSADH,SSDH )
Gene Full Name: aldehyde dehydrogenase 5 family, member A1
Band: 6p22
Quick LinksEntrez ID:7915; OMIM: 610045; Uniprot ID:SSDH_HUMAN; ENSEMBL ID: ENSG00000112294
Sequences Top
>ALDH5A1|7915|nucleotide
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>ALDH5A1|7915|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMSuccinic semialdehyde dehydrogenase deficiency (271980)
DescriptionSuccinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria); 12% (4/33) have autistic features
Reference(s)18622364; 12743223;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000149 6p22.2 6 D6S2239 - - 0.022 Guerini, 2010

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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
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