| Disease ID | Disease name | Source of annotation with HSD17B4 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 261515 | D-BIFUNCTIONAL PROTEIN DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | HSD17B4 |
| PS233400 | PERRAULT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | C10orf2, HARS2, LARS2, HSD17B4, CLPP |
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 |
| Peroxisome | hsa04146 | 6.34 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Bile acid and bile salt metabolism | R-HSA-194068 | 7.85 |
| Beta-oxidation of pristanoyl-CoA | R-HSA-389887 | 9.98 |
| Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol | R-HSA-193368 | 8.4 |
| Peroxisomal lipid metabolism | R-HSA-390918 | 8.59 |
| alpha-linolenic (omega3) and linoleic (omega6) acid metabolism | R-HSA-2046104 | 9.28 |
| Beta-oxidation of very long chain fatty acids | R-HSA-390247 | 10.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Synthesis of bile acids and bile salts | R-HSA-192105 | 8.23 |
| alpha-linolenic acid (ALA) metabolism | R-HSA-2046106 | 9.28 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| GO term | GO ID | GO IC |
|---|---|---|
| steroid dehydrogenase activity | GO:0016229 | 6.34 |
| 17-beta-hydroxysteroid dehydrogenase (NAD+) activity | GO:0044594 | 9.74 |
| receptor binding | GO:0005102 | 2.43 |
| 3-hydroxyacyl-CoA dehydrogenase activity | GO:0003857 | 7.54 |
| 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 |
| carbon-oxygen lyase activity | GO:0016835 | 5.46 |
| 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity | GO:0033989 | 9.74 |
| lyase activity | GO:0016829 | 4.53 |
| 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 |
| long-chain-enoyl-CoA hydratase activity | GO:0016508 | 8.64 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| hydro-lyase activity | GO:0016836 | 5.81 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |