| Disease ID | Disease name | Source of annotation with ABAT | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 613163 | GABA-TRANSAMINASE DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | ABAT |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Alanine, aspartate and glutamate metabolism | hsa00250 | 7.64 |
| Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
| GABAergic synapse | hsa04727 | 6.24 |
| Propanoate metabolism | hsa00640 | 7.81 |
| Butanoate metabolism | hsa00650 | 7.96 |
| beta-Alanine metabolism | hsa00410 | 7.72 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Neuronal System | R-HSA-112316 | 4.82 |
| Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
| GABA synthesis, release, reuptake and degradation | R-HSA-888590 | 8.73 |
| Neurotransmitter Release Cycle | R-HSA-112310 | 7.34 |
| Degradation of GABA | R-HSA-916853 | 11.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| cation binding | GO:0043169 | 1.4 |
| pyridoxal phosphate binding | GO:0030170 | 5.83 |
| metal cluster binding | GO:0051540 | 5.55 |
| catalytic activity | GO:0003824 | 1.05 |
| GO:0003867 | 9.74 | |
| iron-sulfur cluster binding | GO:0051536 | 5.55 |
| enzyme binding | GO:0019899 | 2.27 |
| ion binding | GO:0043167 | 1.36 |
| transaminase activity | GO:0008483 | 6.74 |
| transferase activity | GO:0016740 | 1.95 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| GO:0032145 | 9.74 | |
| GO:0047298 | 9.74 | |
| protein dimerization activity | GO:0046983 | 2.72 |
| metal ion binding | GO:0046872 | 1.41 |
| transferase activity, transferring nitrogenous groups | GO:0016769 | 6.65 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |