Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.780 GeneticVariation CLINVAR Three novel C-terminal mutants of the HSD3B2 gene are responsible for classical 3beta-HSD deficiency. 18252794

2008
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.780 CausalMutation CLINVAR