MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.110 GeneticVariation disease BEFREE Using a positional cloning approach, we isolated a novel gene, PROSIT240 (also termed THRAP2), that is interrupted in a patient with a chromosomal translocation and who displays TGA and mental retardation. 14638541 2003
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.110 CausalMutation disease CLINVAR