| Disease ID | Disease name | Source of annotation with MMACHC | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 153870 | MACULAR DYSTROPHY, CONCENTRIC ANNULAR | ClinVar | link to OMIM | 2 | CRX, MMACHC |
| 277400 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE | OMIM, HUMSAVAR | link to OMIM | 1 | MMACHC |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Vitamin digestion and absorption | hsa04977 | 8.24 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD | R-HSA-3359473 | 11.98 |
| Defects in cobalamin (B12) metabolism | R-HSA-3296469 | 9.28 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC | R-HSA-3359474 | 12.98 |
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Cobalamin (Cbl, vitamin B12) transport and metabolism | R-HSA-196741 | 8.73 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cyanocobalamin reductase (cyanide-eliminating) activity | GO:0033787 | 9.74 |
| cobalamin binding | GO:0031419 | 7.54 |
| oxidoreductase activity, oxidizing metal ions | GO:0016722 | 6.85 |
| oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor | GO:0016723 | 7.34 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| vitamin binding | GO:0019842 | 5.34 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| oxidoreductase activity | GO:0016491 | 3.12 |