| Disease ID | Disease name | Source of annotation with ECHS1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 256000 | LEIGH SYNDROME | ClinVar | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, SURF1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, FOXRED1, NDUFS4, NDUFA9 |
| 616277 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ECHS1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Lysine degradation | hsa00310 | 7.01 |
| Fatty acid elongation | hsa00062 | 8.18 |
| Metabolic pathways | hsa01100 | 2.49 |
| Fatty acid degradation | hsa00071 | 7.15 |
| Carbon metabolism | hsa01200 | 6.03 |
| Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
| Propanoate metabolism | hsa00640 | 7.81 |
| Tryptophan metabolism | hsa00380 | 7.34 |
| Fatty acid metabolism | hsa01212 | 7.07 |
| Butanoate metabolism | hsa00650 | 7.96 |
| beta-Alanine metabolism | hsa00410 | 7.72 |
| 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 butanoyl-CoA to acetyl-CoA | R-HSA-77352 | 11.4 |
| Beta oxidation of hexanoyl-CoA to butanoyl-CoA | R-HSA-77350 | 10.66 |
| 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 |
| mitochondrial fatty acid beta-oxidation of saturated fatty acids | R-HSA-77286 | 9.98 |
| 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 |
| GO term | GO ID | GO IC |
|---|---|---|
| enoyl-CoA hydratase activity | GO:0004300 | 8.13 |
| carbon-oxygen lyase activity | GO:0016835 | 5.46 |
| hydro-lyase activity | GO:0016836 | 5.81 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| lyase activity | GO:0016829 | 4.53 |