Disease ID | Disease name | Source of annotation with HSD3B2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
201810 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HSD3B2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Ovarian steroidogenesis | hsa04913 | 7.07 |
Metabolic pathways | hsa01100 | 2.49 |
Steroid hormone biosynthesis | hsa00140 | 6.93 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Glucocorticoid biosynthesis | R-HSA-194002 | 9.81 |
Metabolism | R-HSA-1430728 | 2.34 |
Mineralocorticoid biosynthesis | R-HSA-193993 | 10.4 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Androgen biosynthesis | R-HSA-193048 | 9.52 |
Metabolism of steroid hormones and vitamin D | R-HSA-196071 | 7.89 |
GO term | GO ID | GO IC |
---|---|---|
steroid dehydrogenase activity | GO:0016229 | 6.34 |
oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
isomerase activity | GO:0016853 | 4.62 |
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0016616 | 5.0 |
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0033764 | 6.48 |
catalytic activity | GO:0003824 | 1.05 |
3-beta-hydroxy-delta5-steroid dehydrogenase activity | GO:0003854 | 7.95 |
steroid delta-isomerase activity | GO:0004769 | 8.64 |
oxidoreductase activity | GO:0016491 | 3.12 |
intramolecular oxidoreductase activity, transposing C=C bonds | GO:0016863 | 7.17 |
intramolecular oxidoreductase activity | GO:0016860 | 5.75 |