EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
5.3.3.1 | 3beta-hydroxy-delta5-steroid dehydrogenase deficiency |
18252794 |
Carboxyl-Terminal Mutations in 3{beta}-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia. |
causal interaction diagnostic usage therapeutic application unassigned |
4 3 1 0 |
5.3.3.1 | Addison Disease |
12137862 |
Steroid-cell autoantibodies are preferentially expressed in women with premature ovarian failure who have adrenal autoimmunity. |
causal interaction diagnostic usage ongoing research therapeutic application |
2 3 2 1 |
5.3.3.1 | Adenoma |
9625451 |
Immunohistochemical study of cytochrome b5 in human adrenal gland and in adrenocortical adenomas from patients with Cushing's syndrome. |
causal interaction diagnostic usage therapeutic application unassigned |
3 3 1 0 |
5.3.3.1 | Adrenal Hyperplasia, Congenital |
10599696 |
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. |
causal interaction ongoing research unassigned |
4 2 0 |
5.3.3.1 | Adrenal Hyperplasia, Congenital |
11196452 |
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency. |
causal interaction unassigned |
4 0 |
5.3.3.1 | Adrenal Hyperplasia, Congenital |
12050213 |
A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. |
causal interaction ongoing research unassigned |
4 2 0 |
5.3.3.1 | Adrenal Hyperplasia, Congenital |
12050224 |
Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. |
causal interaction diagnostic usage therapeutic application unassigned |
4 3 1 0 |
5.3.3.1 | Adrenal Hyperplasia, Congenital |
12428206 |
Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency. |
causal interaction unassigned |
4 0 |
5.3.3.1 | Adrenal Hyperplasia, Congenital |
15632317 |
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family. |
causal interaction unassigned |
4 0 |
5.3.3.1 | Adrenocortical Hyperfunction |
15080470 |
Trilostane treatment in dogs with pituitary-dependent hyperadrenocorticism. |
diagnostic usage therapeutic application unassigned |
2 1 0 |