EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    5.3.3.5 | Antley-Bixler Syndrome Phenotype |
25646736 |
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. |
causal interaction
unassigned |
4
0 |
| 5.3.3.5 | Candidiasis |
26231054 |
ERG2 and ERG24 Are Required for Normal Vacuolar Physiology as Well as Candida albicans Pathogenicity in a Murine Model of Disseminated but Not Vaginal Candidiasis. |
causal interaction
therapeutic application
unassigned |
3
4
0 |
| 5.3.3.5 | cholestenol delta-isomerase deficiency |
25646736 |
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. |
causal interaction
unassigned |
4
0 |
| 5.3.3.5 | Chondrodysplasia Punctata |
10942423 |
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. |
causal interaction
unassigned |
2
0 |
| 5.3.3.5 | Chondrodysplasia Punctata |
11982764 |
Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. |
causal interaction
unassigned |
4
0 |
| 5.3.3.5 | Chondrodysplasia Punctata |
12509714 |
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). |
causal interaction
unassigned |
2
0 |
| 5.3.3.5 | Chondrodysplasia Punctata |
12760743 |
Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. |
unassigned |
0 |
| 5.3.3.5 | Chondrodysplasia Punctata |
18176751 |
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. |
causal interaction
diagnostic usage
unassigned |
3
4
0 |
| 5.3.3.5 | Chondrodysplasia Punctata |
18395876 |
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata. |
diagnostic usage
unassigned |
2
0 |
| 5.3.3.5 | Chondrodysplasia Punctata |
20949533 |
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. |
causal interaction
unassigned |
3
0 |
