| Disease ID | Disease name | Source of annotation with HMGCL | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 246450 | 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HMGCL |
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 |
| Peroxisome | hsa04146 | 6.34 |
| Butanoate metabolism | hsa00650 | 7.96 |
| Synthesis and degradation of ketone bodies | hsa00072 | 9.6 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Ketone body metabolism | R-HSA-74182 | 10.66 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Synthesis of Ketone Bodies | R-HSA-77111 | 10.98 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| GO term | GO ID | GO IC |
|---|---|---|
| carbon-carbon lyase activity | GO:0016830 | 5.81 |
| binding | GO:0005488 | 0.18 |
| sulfur compound binding | GO:1901681 | 4.32 |
| coenzyme binding | GO:0050662 | 4.53 |
| transition metal ion binding | GO:0046914 | 2.48 |
| lyase activity | GO:0016829 | 4.53 |
| magnesium ion binding | GO:0000287 | 4.41 |
| fatty-acyl-CoA binding | GO:0000062 | 6.3 |
| ion binding | GO:0043167 | 1.36 |
| metal ion binding | GO:0046872 | 1.41 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| anion binding | GO:0043168 | 4.17 |
| cation binding | GO:0043169 | 1.4 |
| manganese ion binding | GO:0030145 | 5.89 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| receptor binding | GO:0005102 | 2.43 |
| hydroxymethylglutaryl-CoA lyase activity | GO:0004419 | 9.05 |
| carboxylic acid binding | GO:0031406 | 4.64 |
| oxo-acid-lyase activity | GO:0016833 | 8.35 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |