EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.14.14.19 | 17alpha-hydroxyprogesterone deacetylase deficiency |
9177409 |
A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency. |
causal interaction unassigned |
4 0 |
1.14.14.19 | 17alpha-hydroxyprogesterone deacetylase deficiency |
11549876 |
New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency. |
causal interaction diagnostic usage ongoing research unassigned |
4 4 3 0 |
1.14.14.19 | 17alpha-hydroxyprogesterone deacetylase deficiency |
12466376 |
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. |
causal interaction diagnostic usage therapeutic application unassigned |
4 2 1 0 |
1.14.14.19 | 17alpha-hydroxyprogesterone deacetylase deficiency |
12706306 |
A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters. |
causal interaction ongoing research unassigned |
4 1 0 |
1.14.14.19 | 17alpha-hydroxyprogesterone deacetylase deficiency |
14504283 |
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. |
causal interaction unassigned |
3 0 |
1.14.14.19 | 17alpha-hydroxyprogesterone deacetylase deficiency |
19793597 |
Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency. |
causal interaction diagnostic usage ongoing research unassigned |
4 4 3 0 |
1.14.14.19 | 17alpha-hydroxyprogesterone deacetylase deficiency |
21340176 |
Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency. |
causal interaction diagnostic usage unassigned |
3 1 0 |
1.14.14.19 | Addison Disease |
29982238 |
Three new Brazilian cases of 17?-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features. |
causal interaction diagnostic usage therapeutic application unassigned |
3 2 1 0 |
1.14.14.19 | Adenoma |
8137519 |
In-vitro evidence for the regulation of 17,20-lyase activity by cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome. |
causal interaction diagnostic usage ongoing research therapeutic application |
4 1 3 1 |
1.14.14.19 | Adenoma |
8288710 |
Mechanism of abnormal production of adrenal androgens in patients with adrenocortical adenomas and carcinomas. |
causal interaction diagnostic usage ongoing research therapeutic application |
4 4 2 1 |