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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 GeneticVariation disease BEFREE Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance. 29959045 2019
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.110 Biomarker disease HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.110 GeneticVariation disease BEFREE Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance. 29959045 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.110 GeneticVariation disease BEFREE Using a positional cloning approach, we isolated a novel gene, PROSIT240 (also termed THRAP2), that is interrupted in a patient with a chromosomal translocation and who displays TGA and mental retardation. 14638541 2003
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.110 CausalMutation disease CLINVAR
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Redefining the MED13L syndrome. 25758992 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Redefining the MED13L syndrome. 25758992 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 Biomarker disease 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282 2017