MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: KLEEFSTRA SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.010 GeneticVariation disease BEFREE The first patient indicates some facial resemblance to Kleefstra syndrome as a novel differential diagnosis, and the second patient shows, for the first time, recurrence of a MED13L missense mutation (p.(Asp860Gly)). 28645799 2017