Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868690
Disease: Hypoadrenocorticism, familial
Hypoadrenocorticism, familial
0.300 Biomarker disease CTD_human An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. 12519885 2003
CUI: C1868690
Disease: Hypoadrenocorticism, familial
Hypoadrenocorticism, familial
0.300 Biomarker disease CTD_human Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 7990958 1994