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 Biomarker disease BEFREE A large duplication highlighting PIP5K1B, PRKACG and FAM189A2 as candidates for 46,XY GD, were also detected. 24055526 2013