Evidence Detail for HMGA2

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Basic Information Top
Gene Full Name: high mobility group AT-hook 2
Band: 12q15
Quick LinksEntrez ID:8091; OMIM: 600698; Uniprot ID:HMGA2_HUMAN; ENSEMBL ID: ENSG00000149948
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) 1 (1) 1 (1) 0 (0) 1 (1) 10 (2)
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
Lynch, 2011_1 human ---Sliver-Russell syndrome case report
  • Subjects: 6
  • Normal Controls: -
  • Methods: SNP6.0, array-CGH
  • Evidence Details: We present that the six children was with developmental delay and array-CGH-detected deletions within 12q14. Two of the children have deletions that included HMGA2 and LEMD3. The other four have deletions that ended proximal to these two genes.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000102 12 12q12-24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000101 12q14.3 12 rs1445442 3.02 - - 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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