TXNRD1, thioredoxin reductase 1, 7296

N. diseases: 136; N. variants: 21
Disease: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268292
Disease: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency 		0.010 GeneticVariation disease BEFREE Less frequent types of CAH are 11β-hydroxylase deficiency (up to 8% of cases), 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency and StAR deficiencies. 29543924 2018