Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Familial Glucocorticoid Deficiency Type 1
0.300 GermlineCausalMutation disease ORPHANET Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). 24601690 2014