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
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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) 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.
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
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