DHRS11, dehydrogenase/reductase 11, 79154

N. diseases: 43; N. variants: 3
Disease: Deficiency of reductase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.010 GeneticVariation disease BEFREE In addition, both the high frequency of the 5-alpha steroid reductase deficiency (5αSRD) IVS1-2A>G mutation and the carrier frequency of the 17-beta hydroxysteroid dehydrogenase 3 (17β-HSD-3) p.R80Q mutation are good examples of a founder effect. p.R80Q can be considered a founder mutation, even though it has been identified in patients of Dutch, Brazilian, and Portuguese origin. 22857144 2012