MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Pierre Robin Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.020 GeneticVariation disease BEFREE MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.020 GeneticVariation disease BEFREE Here, we report MED13L disruption in a translocation t(12;19) breakpoint of a patient with Pierre-Robin syndrome, moderate intellectual disability, craniofacial anomalies, and muscular defects. 25137640 2014