Evidence Detail for PDGFRB

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Basic Information Top
Gene Symbol:PDGFRB ( CD140B,JTK12,PDGFR,PDGFR1 )
Gene Full Name: platelet-derived growth factor receptor, beta polypeptide
Band: 5q33.1
Quick LinksEntrez ID:5159; OMIM: 173410; Uniprot ID:PGFRB_HUMAN; ENSEMBL ID: ENSG00000113721
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
Kajizuka, 2009_1 human serumautism protein expression
  • Subjects: 31 male (12.4#2.4 (6-19))
  • Normal Controls: 31
  • Methods: appropriate commercially available sandwich enzyme-linked immunosorbent assay kits
  • Evidence Details: The serum levels of PDGF-BB in male children with autism were significantly higher (two-tailed Student's t-test: p = 0.0188) than those of normal control subjects. There were no significant change and correlations with clinical variables in serum PDGF-AA, PDGF-AB, and VEGF levels in the children 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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