AutismKB

Evidence Detail for ALDH7A1


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Basic Information Top
Gene Symbol:ALDH7A1 ( ATQ1,EPD,FLJ11738,FLJ92814,PDE )
Gene Full Name: aldehyde dehydrogenase 7 family, member A1
Band: 5q31
Quick LinksEntrez ID:501; OMIM: 107323; Uniprot ID:AL7A1_HUMAN; ENSEMBL ID: ENSG00000164904
Sequences Top
>ALDH7A1|501|nucleotide
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>ALDH7A1|501|protein
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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) 1 (1) 1 (1) 0 (0) 0 (0) 3 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMEpilepsy, pyridoxine-dependent (266100)
DescriptionPyridoxine-dependent epilepsy (antiquitin deficiency) is a rare disorder characterized by early onset seizures that are controlled by pyridoxine (vitamin B6) Among 64 published ALDH7A1 mutations, at least 3 have been reported with autism or autistic features
Reference(s)19128417; 11108513; 20554659;
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
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0002564 5 5q23.2 gain 1 - maternal Pinto, 2010
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000097 5q23.2 5 rs2078477 2.12 - - Ma, 2007

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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
  • Click to Download Data

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