MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 CausalMutation disease CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799 2017
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 GeneticVariation disease CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799 2017
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		0.700 CausalMutation disease CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 GermlineCausalMutation disease ORPHANET Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080 2015
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 Biomarker disease GENOMICS_ENGLAND Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080 2015
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		0.700 GeneticVariation disease CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903 2013
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 GermlineCausalMutation disease ORPHANET Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903 2013
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		0.700 GeneticVariation disease UNIPROT Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 14638541 2003
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		0.700 Biomarker disease CTD_human
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE One of the individuals, suspected of MED13L-related intellectual disability, based on clinical features, was identified by Sanger sequencing. 29959045 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE Disruption of MED13L, encoding a component of the Mediator complex, is increasingly recognized as the cause of an intellectual disability syndrome with associated facial dysmorphism. 29159987 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group BEFREE MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. 29511999 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE Polymorphisms in the MED13L gene have been linked to congenital heart anomalies and intellectual disabilities. 29951696 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group BEFREE MED13L haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart defects and dysmorphic features. 28371282 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE Review of the reported patients with MED13L haploinsufficiency indicates moderate to severe ID and facial anomalies in all patients, as well as severe speech delay and muscular hypotonia in the majority. 28645799 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE Recently, a new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. 27500536 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE In the ID-linked region at 12q24.22-12q24.31 19 out of 21 ID cases carried segmental CNV and 20 of 21 them displayed ROH segments with mean size lengths for ID cases 2512 kb (500-6,472 kb) and for healthy control 682 kb (531-986 kb), including the genes MED13L, HRK, FBXW8, TESC, CDK2AP1 and SBNO1. 25626716 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group BEFREE MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. 25712080 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intellectual disability. 24781760 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). 25758992 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group GENOMICS_ENGLAND Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. 23403903 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group GENOMICS_ENGLAND Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. 23403903 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 GeneticVariation group BEFREE Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. 23403903 2013