Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.160 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: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.160 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
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.160 GeneticVariation disease BEFREE Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intellectual disability. 24781760 2015
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.160 GeneticVariation disease BEFREE Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). 25758992 2015
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.160 GeneticVariation disease BEFREE A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the Mediator complex, was previously associated with transposition of the great arteries (TGA) and intellectual disability (ID), and led to the identification of missense mutations in three patients with isolated TGA. 23403903 2013
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.160 GeneticVariation disease BEFREE Subsequent mutational screening of 97 patients with isolated dextro-looped TGA revealed 3 missense mutations in PROSIT240, which were not detected in 400 control chromosomes. 14638541 2003
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
0.160 Biomarker disease HPO