EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
9843052 |
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
10458450 |
5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
1
3
1 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
10564874 |
New frameshift mutation in the 5alpha-reductase type 2 gene in a Brazilian patient with 5alpha-reductase deficiency. |
causal interaction
unassigned |
4
0 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
10630914 |
Pituitary-gonadal axis in male undermasculinisation. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
10905384 |
Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
10999800 |
Uniparental disomy in steroid 5alpha-reductase 2 deficiency. |
causal interaction
unassigned |
3
0 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
11238515 |
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. |
causal interaction
unassigned |
4
0 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
11257695 |
Etiological studies of severe or familial hypospadias. |
diagnostic usage
unassigned |
3
0 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
11392378 |
Disorders linked to insufficient androgen action in male children. |
causal interaction
unassigned |
4
0 |
| 1.3.99.5 | 3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency |
11578419 |
Squamous cell carcinoma of the vagina in a male pseudohermaphrodite with 5alpha-reductase deficiency. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
