SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
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 		0.020 GeneticVariation disease BEFREE The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype. 22876553 2012
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.020 Biomarker disease BEFREE Molecular analysis in the steroid 5α-reductase type II gene (SRD5A2) was performed in two 46,XY female siblings. 22272144 2011