MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Recently, a new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. 27500536 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 AlteredExpression group BEFREE High expression of PROSIT240 within the heart (aorta) and brain (cerebellum) was well correlated with the malformations observed in the patient and prompted further analyses. 14638541 2003