Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949331
Disease: Gonadal Agenesis
Gonadal Agenesis
0.030 Biomarker disease BEFREE Genotypic male and female SF1 knockout mice have adrenal and gonadal agenesis with persistent Müllerian structures and early lethality. 24056159 2013
CUI: C0949331
Disease: Gonadal Agenesis
Gonadal Agenesis
0.030 GeneticVariation disease BEFREE Complete deletion of Nr5a1 in XY mice results in adrenal and gonadal agenesis, female external genitalia and presence of Müllerian structures. 20595937 2010
CUI: C0949331
Disease: Gonadal Agenesis
Gonadal Agenesis
0.030 GeneticVariation disease BEFREE Targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal, and persistent Müllerian structures in males. 17200175 2007