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 UniProt: the universal protein knowledgebase. 27899622 2017
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 Further confirmation of the MED13L haploinsufficiency syndrome. 24781760 2015
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 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 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 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