Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1589
Gene Symbol: CYP21A2
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.010 GeneticVariation BEFREE We performed molecular genetic analysis of the CYP11B1 gene in six patients with preliminary clinical diagnosis of 11β-OHD and four patients identified as potential 11β-OHD from a CAH cohort in which CYP21A2 gene mutations consecutively screened. 25911436