Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 345275
Gene Symbol: HSD17B13
HSD17B13
17-Hydroxysteroid Dehydrogenase Deficiency
0.010 Biomarker BEFREE Steroid 17β-hydroxysteroid dehydrogenase III (17β-HSD3) deficiency is a rare autosomal recessive disorder that usually presents in patients with a 46,XY karyotype with ambiguous genitalia at birth. 25536660

2015