| Disease ID | Disease name | Source of annotation with AKR1D1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS607765 | BILE ACID SYNTHESIS DEFECT, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | AMACR, AKR1D1, CYP7B1, HSD3B7, ABCD3 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Primary bile acid biosynthesis | hsa00120 | 8.68 |
| Steroid hormone biosynthesis | hsa00140 | 6.93 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Bile acid and bile salt metabolism | R-HSA-194068 | 7.85 |
| Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol | R-HSA-193368 | 8.4 |
| Synthesis of bile acids and bile salts via 27-hydroxycholesterol | R-HSA-193807 | 9.08 |
| Synthesis of bile acids and bile salts via 24-hydroxycholesterol | R-HSA-193775 | 9.18 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Synthesis of bile acids and bile salts | R-HSA-192105 | 8.23 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| GO term | GO ID | GO IC |
|---|---|---|
| steroid dehydrogenase activity | GO:0016229 | 6.34 |
| aldo-keto reductase (NADP) activity | GO:0004033 | 6.48 |
| oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | GO:0016628 | 6.56 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0016616 | 5.0 |
| GO:0047568 | 9.74 | |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| oxidoreductase activity, acting on the CH-CH group of donors | GO:0016627 | 5.66 |
| steroid dehydrogenase activity, acting on the CH-CH group of donors | GO:0033765 | 8.35 |
| lipid binding | GO:0008289 | 3.26 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| steroid binding | GO:0005496 | 5.24 |
| GO:0047787 | 9.05 | |
| enone reductase activity | GO:0035671 | 8.13 |
| oxidoreductase activity | GO:0016491 | 3.12 |