Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis
0.010 GeneticVariation disease BEFREE Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype. 21242195 2011