Gene: MED13L ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR 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
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR 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
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903 2013
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903 2013
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640 2014
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640 2014
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR Redefining the MED13L syndrome. 25758992 2015
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR Redefining the MED13L syndrome. 25758992 2015
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760 2015
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		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
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		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
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760 2015
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		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
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		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
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282 2017