| Disease ID | Disease name | Source of annotation with HADHB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 609015 | MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | HADHA, HADHB |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Fatty acid elongation | hsa00062 | 8.18 |
| Fatty acid metabolism | hsa01212 | 7.07 |
| Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
| Fatty acid degradation | hsa00071 | 7.15 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Mitochondrial Fatty Acid Beta-Oxidation | R-HSA-77289 | 9.08 |
| Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA | R-HSA-77346 | 10.66 |
| Beta oxidation of hexanoyl-CoA to butanoyl-CoA | R-HSA-77350 | 10.66 |
| Beta oxidation of myristoyl-CoA to lauroyl-CoA | R-HSA-77285 | 11.4 |
| Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA | R-HSA-77310 | 10.66 |
| Beta oxidation of octanoyl-CoA to hexanoyl-CoA | R-HSA-77348 | 10.66 |
| Beta oxidation of palmitoyl-CoA to myristoyl-CoA | R-HSA-77305 | 11.4 |
| mitochondrial fatty acid beta-oxidation of saturated fatty acids | R-HSA-77286 | 9.98 |
| Acyl chain remodeling of CL | R-HSA-1482798 | 10.4 |
| Glycerophospholipid biosynthesis | R-HSA-1483206 | 6.46 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Phospholipid metabolism | R-HSA-1483257 | 5.83 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| 3-hydroxyacyl-CoA dehydrogenase activity | GO:0003857 | 7.54 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| lyase activity | GO:0016829 | 4.53 |
| enoyl-CoA hydratase activity | GO:0004300 | 8.13 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
| acetyl-CoA C-acyltransferase activity | GO:0003988 | 7.95 |
| RNA binding | GO:0003723 | 2.36 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| catalytic activity | GO:0003824 | 1.05 |
| oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0016616 | 5.0 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| hydro-lyase activity | GO:0016836 | 5.81 |
| long-chain-3-hydroxyacyl-CoA dehydrogenase activity | GO:0016509 | 8.64 |
| protein binding | GO:0005515 | 0.46 |
| carbon-oxygen lyase activity | GO:0016835 | 5.46 |
| C-acyltransferase activity | GO:0016408 | 7.1 |