Evidence Detail for PAX3

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Basic Information Top
Gene Symbol:PAX3 ( CDHS,HUP2,MGC120381,MGC120382,MGC120383,MGC120384,MGC134778,WS1,WS3 )
Gene Full Name: paired box 3
Band: 2q35-q37|2q35
Quick LinksEntrez ID:5077; OMIM: 606597; Uniprot ID:PAX3_HUMAN; ENSEMBL ID: ENSG00000135903
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) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 7 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Borg, 2002_1 human blood--AD case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: FISH, STS mapping
  • Evidence Details: A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism
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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