| Disease ID | Disease name | Source of annotation with MCCC2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS210200 | METHYLCROTONYLGLYCINURIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | MCCC2, MCCC1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 |
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| Branched-chain amino acid catabolism | R-HSA-70895 | 8.89 |
| Defects in biotin (Btn) metabolism | R-HSA-3323169 | 9.81 |
| Defective HLCS causes multiple carboxylase deficiency | R-HSA-3371599 | 9.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Disease | R-HSA-1643685 | 3.33 |
| Biotin transport and metabolism | R-HSA-196780 | 9.52 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| ligase activity, forming carbon-carbon bonds | GO:0016885 | 7.79 |
| 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 |
| nucleotide binding | GO:0000166 | 1.96 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| ATP binding | GO:0005524 | 2.43 |
| methylcrotonoyl-CoA carboxylase activity | GO:0004485 | 9.05 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| ligase activity | GO:0016874 | 3.72 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| CoA carboxylase activity | GO:0016421 | 7.95 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |