Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
0.020 GeneticVariation disease BEFREE MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
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