MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Developmental Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 Biomarker group BEFREE Mutations in MED12, MED13, and MED13L were previously identified in syndromic developmental disorders with overlapping phenotypes. 30905399 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 Biomarker group BEFREE Despite the fact that MED13L was found to be one of the most common ID genes in the Deciphering Developmental Disorders Study, further detailed patient descriptions are needed to explore the full clinical spectrum, potential genotype-phenotype correlations, as well as the role of missense mutations and potential mutational hotspots along the gene. 28645799 2017