MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Discordant ventriculoarterial connection ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3536741
Disease: Discordant ventriculoarterial connection
Discordant ventriculoarterial connection 		0.020 GeneticVariation disease BEFREE Novel increasing evidence showed that missense mutations in MED13L gene are associated with transposition of great arteries while MED12, MED13, MED15, and MED30, have been correlated with heart development. 31255603 2019
CUI: C3536741
Disease: Discordant ventriculoarterial connection
Discordant ventriculoarterial connection 		0.020 Biomarker disease BEFREE A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. 28645799 2017