| Disease ID | Disease name | Source of annotation with MCEE | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 251120 | METHYLMALONYL-COA EPIMERASE DEFICIENCY | ClinVar, OMIM | link to OMIM | 1 | MCEE |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Carbon metabolism | hsa01200 | 6.03 |
| Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
| Glyoxylate and dicarboxylate metabolism | hsa00630 | 8.07 |
| Propanoate metabolism | hsa00640 | 7.81 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Mitochondrial Fatty Acid Beta-Oxidation | R-HSA-77289 | 9.08 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Propionyl-CoA catabolism | R-HSA-71032 | 10.66 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| racemase and epimerase activity | GO:0016854 | 6.97 |
| isomerase activity | GO:0016853 | 4.62 |
| methylmalonyl-CoA epimerase activity | GO:0004493 | 9.74 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| metal ion binding | GO:0046872 | 1.41 |