Evidence Detail for ALDH5A1

View Evidences View Annotations
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
Show »

Show »

Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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.
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

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

  (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

Registered with NIF