AutismKB 2.0

Annotation 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: Xq13.1
Quick LinksEntrez ID:9968; OMIM: 300188; Uniprot ID:MED12_HUMAN; ENSEMBL ID: ENSG00000184634; HGNC ID: 11957
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Gene Expression
Pathway IDPathway Name
200106Regulation of Wnt-mediated beta catenin signaling and target gene transcription
No data
Pathway IDPathway Name
500652Generic Transcription Pathway
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2001Mental retardation
2069Schizophrenia
2124Autistic disorder
2152Renal tubular acidosis
Desease Name
PSYCH
depressive disorder, major
phobia
schizophrenia
major depression
psychoses
No data
Desease Name
Opitz-Kaveggia syndrome
Lujan-Fryns syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D017638 Asbestos, Crocidolite Asbestos, Crocidolite affects the expression of MED12 mRNAaffects expression 17331233
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of MED12 geneincreases mutagenesis 16344459
D008767 Methylmercury Compounds Methylmercury Compounds results in increased expression of MED12 mRNAincreases expression 16966085
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma Ethylnitrosourea 3.946695378
MESH:D001927 Brain Diseases Ethylnitrosourea 5.3314991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.7418412241 15144691 16651633 16436596 16357521
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 4.0116003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.8517160924
MESH:D003704 Dementia Methylmercury Compounds 5.4816140633
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.8518357618
MESH:D005909 Glioblastoma Ethylnitrosourea 4.1016436596
MESH:D005910 Glioma Ethylnitrosourea 3.6316357521 16651633 18412241
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.3217379185
OMIM:309520 LUJAN-FRYNS SYNDROME marker/mechanism
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.6717365036
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.6317703301 16019985 6695378 16271038
MESH:D008223 Lymphoma Ethylnitrosourea 4.2515790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.7015375218
MESH:D058627 Macrocephaly marker/mechanism 17334363
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.7710767621 18041768 10838139
MESH:D008569 Memory Disorders Methylmercury Compounds 5.4918436314
MESH:D008579 Meningioma Ethylnitrosourea 6.8517943659
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.3216966607 18303189 16166281
MESH:D009069 Movement Disorders Methylmercury Compounds 5.8518436314
MESH:D009123 Muscle Hypotonia marker/mechanism 17334363
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 5.0516707424
MESH:D009442 Neurilemmoma Ethylnitrosourea 6.1616003739 17160924 16651423
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.8517160924
MESH:C537923 Opitz-Kaveggia syndrome marker/mechanism 17334363
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.5510923243
MESH:D011297 Prenatal Exposure Delayed Effects Methylmercury Compounds 5.7218436314
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1617365031 17322281 17975199 15814490
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.9015790496
Pathway ID Pathway Name
REACT:15380 Diabetes pathways
REACT:71 Gene Expression
REACT:27166 Transcriptional Regulation of Adipocyte Differentiation in 3T3-L1 Pre-adipocytes
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36645
    • No data
    Releated disease ID Related disease Name
    PA444929Mental Retardation
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA152241932Opitz-Kaveggia syndrome
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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