Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.500 None 1.000 0 0 2009 2009