MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1029377279
rs1029377279
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1837341
Disease:
Transposition of the Great Arteries, Dextro-Looped 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518705
rs1057518705
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		G 0.700 CausalMutation CLINVAR
dbSNP: rs11067904
rs11067904
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs1135401765
rs1135401765
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1135401765
rs1135401765
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1135401766
rs1135401766
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1843367
Disease:
Poor school performance 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1135401766
rs1135401766
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1135401810
rs1135401810
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918333
rs121918333
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1837341
Disease:
Transposition of the Great Arteries, Dextro-Looped 1 		0.800 GeneticVariation 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
dbSNP: rs121918333
rs121918333
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1837341
Disease:
Transposition of the Great Arteries, Dextro-Looped 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs147976828
rs147976828
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622 2017
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903 2013
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282 2017
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080 2015
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760 2015
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Redefining the MED13L syndrome. 25758992 2015
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821 2017
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640 2014