| Disease ID | Disease name | Source of annotation with AUH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS250950 | 3-METHYLGLUTACONIC ACIDURIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | DNAJC19, OPA3, TAZ, CLPB, AUH, SERAC1 |
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 |
|---|---|---|
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Branched-chain amino acid catabolism | R-HSA-70895 | 8.89 |
| GO term | GO ID | GO IC |
|---|---|---|
| mRNA binding | GO:0003729 | 4.68 |
| methylglutaconyl-CoA hydratase activity | GO:0004490 | 9.74 |
| catalytic activity | GO:0003824 | 1.05 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| lyase activity | GO:0016829 | 4.53 |
| enoyl-CoA hydratase activity | GO:0004300 | 8.13 |
| mRNA 3'-UTR binding | GO:0003730 | 5.85 |
| nucleic acid binding | GO:0003676 | 1.44 |
| RNA binding | GO:0003723 | 2.36 |
| hydro-lyase activity | GO:0016836 | 5.81 |
| carbon-oxygen lyase activity | GO:0016835 | 5.46 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| binding | GO:0005488 | 0.18 |