Disease: Congenital defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.010 GeneticVariation group BEFREE All STRA6 mutants associated with severe birth defects have largely abolished vitamin A uptake activity, consistent with the severe clinical phenotypes. 18387951 2008