AutismKB

Evidence Detail for PON1


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Basic Information Top
Gene Symbol:PON1 ( ESA,MVCD5,PON )
Gene Full Name: paraoxonase 1
Band: 7q21.3
Quick LinksEntrez ID:5444; OMIM: 168820; Uniprot ID:PON1_HUMAN; ENSEMBL ID: ENSG00000005421
Sequences Top
>PON1|5444|nucleotide
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>PON1|5444|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) No 0 (0) 0 (0) 0 (0) 0 (0) 1 (4) 1 (1) 10 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Pasca, 2008_1 Rumania 2 (detail) 50
(22.00%)
ASD 6.54±0.48
-
- 85
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Pasca, 2008_1 human plasmaASD protein function
  • Subjects: 50
  • Normal Controls: 85
  • Methods: spectrophotometric methods
  • Evidence Details: We found that both PON1 arylesterase and PON1 paraoxonase activities were decreased in autistic patients (P<0.001, respectively P<0.05)
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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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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