Evidence Detail for MED12

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Basic Information Top
Gene Symbol:MED12 ( ARC240,CAGH45,FGS1,HOPA,KIAA0192,OKS,OPA1,TNRC11,TRAP230 )
Gene Full Name: mediator complex subunit 12
Band: Xq13
Quick LinksEntrez ID:9968; OMIM: 300188; Uniprot ID:MED12_HUMAN; ENSEMBL ID: ENSG00000184634
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) Yes 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMLujan-Fryns syndrome (309520)
DescriptionLujan-Fryns syndrome (X-linked ID with marfanoid habitus); 62.5% (20/32) of subjects with Lujan-Fryns syndrome have an autistic-like disorder
Reference(s)17036352; 17369503; 8725750; 16094260;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Beyer, 2002_1 Germany, Austria 1 (detail) 155
- 157
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Michaelis, 2000_1 human blood--AD genetics
  • Subjects: 202
  • Normal Controls: -
  • Methods: -
  • Evidence Details: The incidence of the duplication was not significantly different between patients and controls
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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