Evidence Detail for MBD4

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Basic Information Top
Gene Symbol:MBD4 ( MED1 )
Gene Full Name: methyl-CpG binding domain protein 4
Band: 3q21.3
Quick LinksEntrez ID:8930; OMIM: 603574; Uniprot ID:MBD4_HUMAN; ENSEMBL ID: ENSG00000129071
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
Cukier, 2009_1 human bloodASD genetics: mutation screen
  • Subjects: 226 (180 male and 46 female)
  • Normal Controls: 245 (100 male and 145 female)
  • Methods: DHPLC, sequencing
  • Evidence Details: Alterations in our autistic population were discovered within the MBD4 gene at eight previously identified SNPs and two novel variants
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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