| Disease ID | Disease name | Source of annotation with MUT | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 251000 | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | MUT |
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 |
|---|---|---|
| Mitochondrial Fatty Acid Beta-Oxidation | R-HSA-77289 | 9.08 |
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| Propionyl-CoA catabolism | R-HSA-71032 | 10.66 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defects in cobalamin (B12) metabolism | R-HSA-3296469 | 9.28 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Defective MMAA causes methylmalonic aciduria type cblA | R-HSA-3359475 | 11.98 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Defective MUT causes methylmalonic aciduria mut type | R-HSA-3359478 | 11.98 |
| Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 |
| Cobalamin (Cbl, vitamin B12) transport and metabolism | R-HSA-196741 | 8.73 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cobalamin binding | GO:0031419 | 7.54 |
| cation binding | GO:0043169 | 1.4 |
| isomerase activity | GO:0016853 | 4.62 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| vitamin binding | GO:0019842 | 5.34 |
| ion binding | GO:0043167 | 1.36 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| methylmalonyl-CoA mutase activity | GO:0004494 | 9.74 |
| binding | GO:0005488 | 0.18 |
| intramolecular transferase activity | GO:0016866 | 6.44 |
| metal ion binding | GO:0046872 | 1.41 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| modified amino acid binding | GO:0072341 | 5.56 |