Disease: 46, XY female ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.050 GeneticVariation disease BEFREE A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent. 24231572 2014
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.050 GeneticVariation disease BEFREE Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. 20302644 2010
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.050 GeneticVariation disease BEFREE Initially, mutations of SF-1/Ad4BP gene (NR5A1) in humans were identified in two 46, XY female patients with adrenal insufficiency and gonadal dysgenesis. 19318730 2009
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.050 GeneticVariation disease BEFREE A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female. 19269353 2009
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.050 Biomarker disease BEFREE Fluorescent in situ hybridization (FISH) and array-based comparative genome hybridization (aCGH) analysis showed a 3 Mb deletion of LMX1B, NR6A1, and NR5A1 (SF1) in the 46,XY female. 17431898 2007