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 GeneticVariation disease CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
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
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		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
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR UniProt: the universal protein knowledgebase. 27899622 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR UniProt: the universal protein knowledgebase. 27899622 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799 2017
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 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