Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Redefining the MED13L syndrome. 25758992

2015

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR Redefining the MED13L syndrome. 25758992

2015

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013