Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
0.300 ChromosomalRearrangement disease ORPHANET Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. 24880616 2014