Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX
0.300 GermlineCausalMutation disease ORPHANET XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. 21963259 2011