Disease: Gonadal Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018050
Disease: Gonadal Disorders
Gonadal Disorders 		0.020 GeneticVariation group BEFREE Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development. 21654157 2011
CUI: C0018050
Disease: Gonadal Disorders
Gonadal Disorders 		0.020 GeneticVariation group BEFREE Previous studies have identified three human subjects with mutations in SF-1 causing adrenocortical insufficiency with varying degrees of gonadal dysfunction. 15070943 2004