Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY
0.010 GeneticVariation disease BEFREE SOX family gene mutations, as well as mutations involving GATA4, FOG2 and genes involved in MAP kinase signaling have been associated with virilization in 46,XX individuals or with 46,XY gonadal dysgenesis. 26526145 2015