Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.020 GeneticVariation disease BEFREE Genomic rearrangements and copy number variations (CNVs) involving AUTS2 have been implicated in a range of NDDs with or without congenital malformations and dysmorphic features. 24459036 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.020 GeneticVariation disease BEFREE The dysmorphic features were more pronounced in persons with 3'AUTS2 deletions. 23332918 2013