REN, renin, 5972

N. diseases: 721; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation disease BEFREE A 46,XX girl presented with genital ambiguity and low renin hypertension; her 46,XY brother presented with precocious puberty.Hormonal studies suggested 11β-OHD. 27316665 2016