MED23
MCID: MD2001
MIFTS: 18

Med23 (MED23)

Categories: Rare diseases

Aliases & Classifications for Med23

MalaCards integrated aliases for Med23:

Name: Med23 20
Intellectual Disability, Autosomal Recessive 18 20

Classifications:



Summaries for Med23

GARD : 20 MED23 is a gene that plays a role in brain development. Mutations in MED23 cause difficulty swallowing, screaming spells, reflux, and gastrointestinal problems in infants. Children with MED23 gene mutations have profound learning and developmental delays impairing muscle control, mobility, communication, and speech. MED23 gene mutations do not cause changes in growth or physical appearance. MED23 is inherited in an autosomal recessive fashion.

MalaCards based summary : Med23, also known as intellectual disability, autosomal recessive 18, is related to opitz-kaveggia syndrome and argininemia. An important gene associated with Med23 is MED23 (Mediator Complex Subunit 23). Affiliated tissues include smooth muscle, adipocyte and myeloid, and related phenotype is embryo.

Wikipedia : 73 Mediator of RNA polymerase II transcription subunit 23 is an enzyme that in humans is encoded by the... more...

Related Diseases for Med23

Graphical network of the top 20 diseases related to Med23:



Diseases related to Med23

Symptoms & Phenotypes for Med23

MGI Mouse Phenotypes related to Med23:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.92 KRAS LARP7 MED23 MED28

Drugs & Therapeutics for Med23

Genetic Tests for Med23

Anatomical Context for Med23

MalaCards organs/tissues related to Med23:

40
Smooth Muscle, Adipocyte, Myeloid, T Cells, Endothelial

Publications for Med23

Articles related to Med23:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Med23 Regulates Sox9 Expression during Craniofacial Development. 61
33155500 2021
2
ELF3 activated by a superenhancer and an autoregulatory feedback loop is required for high-level HLA-C expression on extravillous trophoblasts. 61
33622787 2021
3
Genetic background of ataxia in children younger than 5 years in Finland. 61
32637629 2020
4
The Mediator CDK8-Cyclin C complex modulates Dpp signaling in Drosophila by stimulating Mad-dependent transcription. 61
32463833 2020
5
Impaired Innate Immunity Mechanisms in the Brain of Alzheimer's Disease. 61
32046242 2020
6
Analysis of the microarray gene expression for breast cancer progression after the application modified logistic regression. 61
31759986 2020
7
Mediator Med23 Regulates Adult Hippocampal Neurogenesis. 61
32850819 2020
8
The Mediator Subunit, Med23 Is Required for Embryonic Survival and Regulation of Canonical WNT Signaling During Cranial Ganglia Development. 61
33192541 2020
9
Mediator MED23 regulates inflammatory responses and liver fibrosis. 61
31805036 2019
10
Increasing evidence of pathogenic role of the Mediator (MED) complex in the development of cardiovascular diseases. 61
31255603 2019
11
Whole-genome resequencing to identify candidate genes for the QTL for oleic acid percentage in Japanese Black cattle. 61
30780197 2019
12
Novel mutation in the MED23 gene for intellectual disability: A case report and literature review. 61
30847200 2019
13
Last-Generation Genome-Environment Associations Reveal the Genetic Basis of Heat Tolerance in Common Bean (Phaseolus vulgaris L.). 61
31824551 2019
14
Proteomic Interactome of C. elegans Mediator Complex Subunit 28 (MDT-28) Reveals Predominant Association with a Restricted Set of Core Mediator Subunits and an Affinity to Additional Structural and Enzymatic Proteins. 61
32362303 2019
15
Somatic Mutations Profile of a Young Patient With Metastatic Urothelial Carcinoma Reveals Mutations in Genes Involved in Ion Channels. 61
31192134 2019
16
Combined transcriptomics and proteomics forecast analysis for potential genes regulating the Columbian plumage color in chickens. 61
31693656 2019
17
Regulation of the terminal maturation of iNKT cells by mediator complex subunit 23. 61
30250136 2018
18
Med23 serves as a gatekeeper of the myeloid potential of hematopoietic stem cells. 61
30218073 2018
19
Transcriptome Analysis of Four Arabidopsis thaliana Mediator Tail Mutants Reveals Overlapping and Unique Functions in Gene Regulation. 61
30049745 2018
20
Crystal structure of human Mediator subunit MED23. 61
30140054 2018
21
Integration of EGFR and LIN-12/Notch Signaling by LIN-1/Elk1, the Cdk8 Kinase Module, and SUR-2/Med23 in Vulval Precursor Cell Fate Patterning in Caenorhabditis elegans. 61
28954762 2017
22
Mediator Complex Subunits MED2, MED5, MED16, and MED23 Genetically Interact in the Regulation of Phenylpropanoid Biosynthesis. 61
29203634 2017
23
Splicing regulators in endothelial cell differentiation. 61
28661931 2017
24
Mediator MED23 Links Pigmentation and DNA Repair through the Transcription Factor MITF. 61
28834744 2017
25
MED23 in endocrinotherapy for breast cancer. 61
28588722 2017
26
Differing roles for sur-2/MED23 in C. elegans and C. briggsae vulval development. 61
28220250 2017
27
Modulation of Immune Responses to Herpes Simplex Virus Type 1 by IFNL3 and IRF7 Polymorphisms: A Study in Alzheimer's Disease. 61
28984602 2017
28
Effect of l-arginine, asymmetric dimethylarginine, and symmetric dimethylarginine on ischemic heart disease risk: A Mendelian randomization study. 61
27914500 2016
29
MED23-associated refractory epilepsy successfully treated with the ketogenic diet. 61
27311965 2016
30
Multiple P-TEFbs cooperatively regulate the release of promoter-proximally paused RNA polymerase II. 61
27353326 2016
31
Mediator MED23 cooperates with RUNX2 to drive osteoblast differentiation and bone development. 61
27033977 2016
32
BET Bromodomain Inhibition Releases the Mediator Complex from Select cis-Regulatory Elements. 61
27068464 2016
33
MEGSA: A Powerful and Flexible Framework for Analyzing Mutual Exclusivity of Tumor Mutations. 61
26899600 2016
34
The Mediator subunit MED23 couples H2B mono-ubiquitination to transcriptional control and cell fate determination. 61
26330467 2015
35
MED23: a new Mediator of H2B monoubiquitylation. 61
26438725 2015
36
Mutational Heterogeneity of MED23 Gene in Colorectal Cancers. 61
26152846 2015
37
MED23-associated intellectual disability in a non-consanguineous family. 61
25845469 2015
38
Mediator subunit 23 overexpression as a novel target for suppressing proliferation and tumorigenesis in hepatocellular carcinoma. 61
25684393 2015
39
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. 61
25527630 2015
40
Mediator Med23 deficiency enhances neural differentiation of murine embryonic stem cells through modulating BMP signaling. 61
25564654 2015
41
Variants in Antiviral Genes are Risk Factors for Cognitive Decline and Dementia. 61
25835418 2015
42
Upregulation of mediator MED23 in non-small-cell lung cancer promotes the growth, migration, and metastasis of cancer cells. 61
25273169 2014
43
Genome-wide association study of L-arginine and dimethylarginines reveals novel metabolic pathway for symmetric dimethylarginine. 61
25245031 2014
44
Liver Med23 ablation improves glucose and lipid metabolism through modulating FOXO1 activity. 61
25223702 2014
45
Downregulation of MED23 promoted the tumorigenecity of esophageal squamous cell carcinoma. 61
23625751 2014
46
The mediator subunit Med23 contributes to controlling T-cell activation and prevents autoimmunity. 61
25301163 2014
47
The roles of mediator complex in cardiovascular diseases. 61
24751643 2014
48
Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation. 61
24040793 2014
49
T-cells null for the MED23 subunit of mediator express decreased levels of KLF2 and inefficiently populate the peripheral lymphoid organs. 61
25054639 2014
50
ERK phosphorylation of MED14 in promoter complexes during mitogen-induced gene activation by Elk-1. 61
24049075 2013

Variations for Med23

Expression for Med23

Search GEO for disease gene expression data for Med23.

Pathways for Med23

GO Terms for Med23

Cellular components related to Med23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mediator complex GO:0016592 8.62 MED28 MED23

Sources for Med23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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