| Disease ID | Disease name | Source of annotation with MMAA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 251110 | METHYLMALONIC ACIDURIA, CBLB TYPE | ClinVar | link to OMIM | 2 | MMAA, MMAB |
| 251100 | METHYLMALONIC ACIDURIA, CBLA TYPE | OMIM, HUMSAVAR | link to OMIM | 1 | MMAA |
Download the gene annotation in CSV format
| 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 |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| nucleotide binding | GO:0000166 | 1.96 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| GTP binding | GO:0005525 | 3.78 |
| hydrolase activity | GO:0016787 | 1.9 |
| GTPase activity | GO:0003924 | 4.31 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |