Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 GeneticVariation disease BEFREE We identified a novel nonsense IKBKG mutation (c.924C > G; p.Tyr308*) in an IP patient with syndromic tooth agenesis. 30913450 2019