Gene: MED13L

Alternate names for this Gene: MRFACD|PROSIT240|THRAP2|TRAP240L

Gene Summary: The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.21

Description of this Gene: mediator complex subunit 13L

Type of Gene: protein-coding

rs11067904 in MED13L gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs73200209 in MED13L gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs1555240361 in MED13L gene and Dysmorphic features PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

rs61939692 in MED13L gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs1555246154 in MED13L gene and MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

rs1555243099 in MED13L gene and Movement Disorders PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

rs1555240361 in MED13L gene and Multiple congenital anomalies PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

rs1555239936 in MED13L gene and Muscle hypotonia PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

rs1555244216 in MED13L gene and Overgrowth PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

rs61935843 in MED13L gene and Regular astigmatism - corneal PMID 30306274 2018 Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

rs73196098 in MED13L gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121918333 in MED13L gene and Transposition of the Great Arteries, Dextro-Looped 1 PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.